#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA13	154664	genome.wustl.edu	37	7	48443387	48443387	+	Missense_Mutation	SNP	C	C	G	rs371333701		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:48443387C>G	ENST00000435803.1	+	39	12005	c.11981C>G	c.(11980-11982)tCg>tGg	p.S3994W		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3994	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGGCATGTCGAGGACCGTG	0.572																																						dbGAP											0													95.0	95.0	95.0					7																	48443387		2003	4165	6168	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11981C>G	7.37:g.48443387C>G	ENSP00000411096:p.Ser3994Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3994W	ENST00000435803.1	37	c.11981	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713120	0.68730	.	.	ENSG00000179869	ENST00000435803	D	0.93763	-3.28	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.171567	0.28109	N	0.016579	D	0.97717	0.9251	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97882	1.0292	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1696;3994	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	W	3994	ENSP00000411096:S3994W	ENSP00000411096:S3994W	S	+	2	0	ABCA13	48413933	0.997000	0.39634	0.045000	0.18777	0.152000	0.21847	4.709000	0.61867	2.941000	0.99782	0.655000	0.94253	TCG	ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.572	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	178	0.00	0	C	NM_152701		48443387	48443387	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	97	13.27	15	SNP	0.996	G
ABCB1	5243	genome.wustl.edu	37	7	87160672	87160672	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:87160672C>T	ENST00000265724.3	-	22	3040	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E811K|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	875	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTTTCATTTCAACAACTCCT	0.353																																						dbGAP											0													145.0	143.0	144.0					7																	87160672		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2623G>A	7.37:g.87160672C>T	ENSP00000265724:p.Glu875Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	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.E875K	ENST00000265724.3	37	c.2623	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365048	0.61513	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91577	-2.87;-2.87	5.67	4.77	0.60923	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.107759	0.64402	D	0.000006	D	0.94447	0.8213	M	0.86502	2.82	0.49213	D	0.999762	B;D	0.54397	0.315;0.966	B;P	0.55222	0.239;0.771	D	0.94812	0.7979	10	0.54805	T	0.06	-23.8167	15.1754	0.72907	0.0:0.7328:0.2672:0.0	.	811;875	B5AK60;P08183	.;MDR1_HUMAN	K	656;875;811	ENSP00000265724:E875K;ENSP00000444095:E811K	ENSP00000265724:E875K	E	-	1	0	ABCB1	86998608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.841000	0.39240	1.495000	0.48549	0.591000	0.81541	GAA	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000085563		0.353	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	258	0.00	0	C	NM_000927		87160672	87160672	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	87	28.69	35	SNP	1.000	T
ABCC9	10060	genome.wustl.edu	37	12	22005123	22005123	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:22005123C>G	ENST00000261201.4	-	22	2676	c.2677G>C	c.(2677-2679)Gaa>Caa	p.E893Q	ABCC9_ENST00000261200.4_Missense_Mutation_p.E893Q|ABCC9_ENST00000345162.2_Missense_Mutation_p.E857Q|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	893	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAGTTCCTTCTCTTAGGACA	0.378																																						dbGAP											0													110.0	95.0	100.0					12																	22005123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2677G>C	12.37:g.22005123C>G	ENSP00000261201:p.Glu893Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E893Q	ENST00000261201.4	37	c.2677	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422215	0.62622	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.68	4.68	0.58851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	N	0.03999	-0.3	0.80722	D	1	B;B	0.28713	0.22;0.111	B;B	0.33846	0.171;0.065	T	0.68765	-0.5322	10	0.19147	T	0.46	-17.3382	16.3218	0.82953	0.0:1.0:0.0:0.0	.	893;893	O60706;O60706-2	ABCC9_HUMAN;.	Q	893;520;893;857	ENSP00000261200:E893Q;ENSP00000440521:E520Q;ENSP00000261201:E893Q;ENSP00000261202:E857Q	ENSP00000261200:E893Q	E	-	1	0	ABCC9	21896390	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.284000	0.78650	2.576000	0.86940	0.650000	0.86243	GAA	ABCC9	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	329	0.00	0	C	NM_005691		22005123	22005123	-1	no_errors	ENST00000261200	ensembl	human	known	69_37n	missense	190	12.84	28	SNP	1.000	G
ABCG2	9429	genome.wustl.edu	37	4	89060991	89060991	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:89060991G>A	ENST00000237612.3	-	2	702	c.157C>T	c.(157-159)Cta>Tta	p.L53L	ABCG2_ENST00000515655.1_Silent_p.L53L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	53	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CGACAAGGTAGAAAGCCACTC	0.378																																						dbGAP											0													70.0	66.0	68.0					4																	89060991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.157C>T	4.37:g.89060991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L53	ENST00000237612.3	37	c.157	CCDS3628.1	4																																																																																			ABCG2	-	pfscan_ABC_transporter-like	ENSG00000118777		0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	182	0.00	0	G	NM_004827		89060991	89060991	-1	no_errors	ENST00000237612	ensembl	human	known	69_37n	silent	89	16.82	18	SNP	0.034	A
ABCG4	64137	genome.wustl.edu	37	11	119029576	119029576	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:119029576C>G	ENST00000449422.2	+	12	1562	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	ABCG4_ENST00000531739.1_Silent_p.L458L|ABCG4_ENST00000307417.3_Silent_p.L458L|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	458	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGAGCACCTCAACTACTGGT	0.622																																						dbGAP											0													306.0	217.0	247.0					11																	119029576		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1374C>G	11.37:g.119029576C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L458	ENST00000449422.2	37	c.1374	CCDS8415.1	11																																																																																			ABCG4	-	pfam_ABC_2_trans	ENSG00000172350		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	142	0.00	0	C	NM_022169		119029576	119029576	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	silent	88	10.20	10	SNP	1.000	G
ABLIM1	3983	genome.wustl.edu	37	10	116205085	116205085	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:116205085C>G	ENST00000277895.5	-	16	1910	c.1813G>C	c.(1813-1815)Gag>Cag	p.E605Q	ABLIM1_ENST00000392952.3_Missense_Mutation_p.E282Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.E545Q|ABLIM1_ENST00000369266.3_Missense_Mutation_p.E282Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.E228Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E545Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	605					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATTAATTGCTCTTCTTGAAGC	0.393																																						dbGAP											0													221.0	196.0	204.0					10																	116205085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1813G>C	10.37:g.116205085C>G	ENSP00000277895:p.Glu605Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.E673Q	ENST00000277895.5	37	c.2017	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.209085|4.209085	0.79240|0.79240	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253|ENST00000392955	T;T;T;T;T|.	0.32023|.	1.63;1.5;1.64;1.5;1.47|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70666|0.70666	0.3250|0.3250	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	P;D;D;B;B;D;D;B;D|.	0.76494|.	0.927;0.99;0.998;0.22;0.255;0.999;0.986;0.138;0.998|.	P;P;D;B;B;D;D;B;D|.	0.87578|.	0.608;0.78;0.997;0.119;0.075;0.977;0.926;0.082;0.998|.	T|T	0.64833|0.64833	-0.6314|-0.6314	10|5	0.62326|.	D|.	0.03|.	.|.	18.8526|18.8526	0.92238|0.92238	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	482;207;545;573;605;282;575;529;228|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	Q|N	605;545;282;228;573;545;673;529;282;529;482;673;357|478	ENSP00000358256:E545Q;ENSP00000376679:E282Q;ENSP00000433629:E545Q;ENSP00000358270:E282Q;ENSP00000358257:E357Q|.	ENSP00000277895:E673Q|.	E|K	-|-	1|3	0|2	ABLIM1|ABLIM1	116195075|116195075	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.758000|5.758000	0.68776|0.68776	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAG|AAG	ABLIM1	-	NULL	ENSG00000099204		0.393	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	338	0.00	0	C			116205085	116205085	-1	no_errors	ENST00000277895	ensembl	human	known	69_37n	missense	160	11.60	21	SNP	1.000	G
ACACA	31	genome.wustl.edu	37	17	35549229	35549229	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:35549229G>C	ENST00000394406.2	-	37	4297	c.4107C>G	c.(4105-4107)atC>atG	p.I1369M	ACACA_ENST00000360679.3_Missense_Mutation_p.I1311M|ACACA_ENST00000353139.5_Missense_Mutation_p.I1406M|ACACA_ENST00000335166.5_Missense_Mutation_p.I1291M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1369					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATGACGATAGATACGATCCT	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													56.0	51.0	53.0					17																	35549229		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4107C>G	17.37:g.35549229G>C	ENSP00000377928:p.Ile1369Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I1406M	ENST00000394406.2	37	c.4218	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370132	0.61624	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.68	1.26	0.21427	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.86028	2.79	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.883;0.858	D;D;P;P	0.97110	1.0;1.0;0.688;0.561	T	0.59193	-0.7500	10	0.45353	T	0.12	-15.8958	5.1284	0.14897	0.3231:0.0:0.5317:0.1452	.	117;1406;1369;1311	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	M	1406;1311;1369;1393;1291;117	ENSP00000344789:I1406M;ENSP00000353898:I1311M;ENSP00000377928:I1369M;ENSP00000335323:I1291M	ENSP00000335323:I1291M	I	-	3	3	ACACA	32623342	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.653000	0.37323	-0.007000	0.14345	0.650000	0.86243	ATC	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	87	0.00	0	G	NM_198836		35549229	35549229	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	C
ACACB	32	genome.wustl.edu	37	12	109684081	109684081	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:109684081G>T	ENST00000338432.7	+	39	5518	c.5399G>T	c.(5398-5400)gGa>gTa	p.G1800V	ACACB_ENST00000543201.1_Missense_Mutation_p.G466V|ACACB_ENST00000377854.5_Missense_Mutation_p.G1730V|ACACB_ENST00000377848.3_Missense_Mutation_p.G1800V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1800					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTTCGCATTGGATCCTTTGGC	0.572																																						dbGAP											0													91.0	93.0	92.0					12																	109684081		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5399G>T	12.37:g.109684081G>T	ENSP00000341044:p.Gly1800Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.G1800V	ENST00000338432.7	37	c.5399	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544801	0.65198	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.24	5.24	0.73138	Carboxyl transferase (1);	0.047756	0.85682	D	0.000000	D	0.99357	0.9774	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98650	1.0679	10	0.87932	D	0	.	19.2027	0.93717	0.0:0.0:1.0:0.0	.	1800	O00763	ACACB_HUMAN	V	1800;1800;1730;1031;466;125	ENSP00000341044:G1800V;ENSP00000367079:G1800V;ENSP00000367085:G1730V;ENSP00000444075:G466V	ENSP00000341044:G1800V	G	+	2	0	ACACB	108168464	1.000000	0.71417	0.131000	0.22000	0.167000	0.22549	9.857000	0.99534	2.618000	0.88619	0.561000	0.74099	GGA	ACACB	-	pfam_Carboxyl_trans	ENSG00000076555		0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	71	0.00	0	G	NM_001093		109684081	109684081	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	T
ACSM2B	348158	genome.wustl.edu	37	16	20575996	20575996	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:20575996C>G	ENST00000329697.6	-	2	340	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E58Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E58Q|ACSM2B_ENST00000414188.2_Missense_Mutation_p.E58Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	58					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTACCTTCTCCATGTCAGCC	0.413																																						dbGAP											0													86.0	78.0	81.0					16																	20575996		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.172G>C	16.37:g.20575996C>G	ENSP00000327453:p.Glu58Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E58Q	ENST00000329697.6	37	c.172	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966731	0.53507	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.45668	0.89;2.02	3.27	3.27	0.37495	.	0.000000	0.44483	D	0.000449	T	0.47948	0.1473	L	0.38175	1.15	0.26487	N	0.975002	D;D	0.71674	0.998;0.998	D;D	0.68353	0.957;0.957	T	0.22591	-1.0212	10	0.66056	D	0.02	-30.5389	7.6656	0.28428	0.0:0.8766:0.0:0.1234	.	58;58	A8K051;Q68CK6	.;ACS2B_HUMAN	Q	58	ENSP00000327453:E58Q;ENSP00000390378:E58Q	ENSP00000327453:E58Q	E	-	1	0	ACSM2B	20483497	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.361000	0.34136	1.658000	0.50742	0.505000	0.49811	GAG	ACSM2B	-	NULL	ENSG00000066813		0.413	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	365	0.00	0	C	NM_182617		20575996	20575996	-1	no_errors	ENST00000329697	ensembl	human	known	69_37n	missense	221	14.34	37	SNP	1.000	G
ADAM29	11086	genome.wustl.edu	37	4	175898228	175898228	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:175898228G>A	ENST00000359240.3	+	5	2222	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	ADAM29_ENST00000514159.1_Missense_Mutation_p.E518K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E518K|ADAM29_ENST00000445694.1_Missense_Mutation_p.E518K|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	518	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTGCAAGTGAGACTTGCTA	0.428																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											0													83.0	86.0	85.0					4																	175898228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1552G>A	4.37:g.175898228G>A	ENSP00000352177:p.Glu518Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E518K	ENST00000359240.3	37	c.1552	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	7.870	0.728034	0.15507	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	3.48	-6.97	0.01616	ADAM, cysteine-rich (2);	5.916770	0.00589	U	0.000341	T	0.09113	0.0225	N	0.11106	0.095	0.09310	N	1	B	0.19073	0.033	B	0.17979	0.02	T	0.19549	-1.0302	9	.	.	.	.	3.4015	0.07325	0.2825:0.1183:0.4438:0.1553	.	518	Q9UKF5	ADA29_HUMAN	K	518	ENSP00000352177:E518K;ENSP00000414544:E518K;ENSP00000384229:E518K;ENSP00000423517:E518K	.	E	+	1	0	ADAM29	176134803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.954000	0.00326	-2.885000	0.00317	-0.884000	0.02946	GAG	ADAM29	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000168594		0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		130	0.00	0	G			175898228	175898228	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.000	A
ADAM7	8756	genome.wustl.edu	37	8	24323268	24323268	+	Silent	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:24323268C>A	ENST00000175238.6	+	5	452	c.369C>A	c.(367-369)atC>atA	p.I123I	ADAM7_ENST00000441335.2_Silent_p.I123I|ADAM7_ENST00000380789.1_Silent_p.I123I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTGCCAGTATCAGTACGTGTA	0.299																																						dbGAP											0													128.0	120.0	123.0					8																	24323268		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.369C>A	8.37:g.24323268C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X7|O75959|Q6PEJ6	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.I123	ENST00000175238.6	37	c.369	CCDS6045.1	8																																																																																			ADAM7	-	pfam_Peptidase_M12B_N	ENSG00000069206		0.299	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	258	0.00	0	C	NM_003817		24323268	24323268	+1	no_errors	ENST00000175238	ensembl	human	known	69_37n	silent	142	13.94	23	SNP	1.000	A
ADAMTS14	140766	genome.wustl.edu	37	10	72503854	72503854	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:72503854G>A	ENST00000373207.1	+	14	2091	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.M700I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	697	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGGGTCCATGAAGGCGGATG	0.667																																						dbGAP											0													34.0	29.0	31.0					10																	72503854		2192	4286	6478	-	-	-	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2091G>A	10.37:g.72503854G>A	ENSP00000362303:p.Met697Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M700I	ENST00000373207.1	37	c.2100	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513372	0.44660	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.66815	-0.23;-0.23	5.38	5.38	0.77491	.	0.287947	0.35407	N	0.003221	T	0.40522	0.1120	N	0.01576	-0.805	0.35070	D	0.762367	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.18263	0.021;0.002;0.009	T	0.50206	-0.8855	10	0.42905	T	0.14	.	13.7483	0.62890	0.0:0.1543:0.8457:0.0	.	630;697;700	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	I	700;697	ENSP00000362304:M700I;ENSP00000362303:M697I	ENSP00000362303:M697I	M	+	3	0	ADAMTS14	72173860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.397000	0.52572	2.793000	0.96121	0.655000	0.94253	ATG	ADAMTS14	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000138316		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	65	0.00	0	G	NM_080722		72503854	72503854	+1	no_errors	ENST00000373208	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	A
ADAMTS16	170690	genome.wustl.edu	37	5	5237177	5237177	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:5237177G>C	ENST00000274181.7	+	14	2257	c.2119G>C	c.(2119-2121)Gat>Cat	p.D707H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	707	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGCTCGGAGGATAGCCGTAA	0.388																																						dbGAP											0													144.0	134.0	137.0					5																	5237177		1896	4126	6022	-	-	-	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2119G>C	5.37:g.5237177G>C	ENSP00000274181:p.Asp707His	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D707H	ENST00000274181.7	37	c.2119	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157864	0.38119	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.69175	-0.38	5.73	4.86	0.63082	.	0.061993	0.64402	D	0.000008	T	0.74321	0.3701	M	0.64676	1.99	0.42714	D	0.993658	D;B	0.67145	0.996;0.045	P;B	0.59056	0.851;0.083	T	0.75932	-0.3143	10	0.52906	T	0.07	.	10.7737	0.46338	0.0:0.1425:0.7097:0.1478	.	707;707	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	707	ENSP00000274181:D707H	ENSP00000274181:D707H	D	+	1	0	ADAMTS16	5290177	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.546000	0.36179	1.404000	0.46819	0.655000	0.94253	GAT	ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000145536		0.388	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	349	0.00	0	G	NM_139056		5237177	5237177	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	missense	132	34.33	69	SNP	1.000	C
ADAMTS20	80070	genome.wustl.edu	37	12	43769235	43769235	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:43769235C>G	ENST00000389420.3	-	36	5392	c.5393G>C	c.(5392-5394)gGa>gCa	p.G1798A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1798	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACAGTGTATCCAGCAGCTAA	0.338																																						dbGAP											0													147.0	142.0	144.0					12																	43769235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5393G>C	12.37:g.43769235C>G	ENSP00000374071:p.Gly1798Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.G1798A	ENST00000389420.3	37	c.5393	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672967	0.47781	.	.	ENSG00000173157	ENST00000389420	T	0.46451	0.87	4.93	4.93	0.64822	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.49305	D	0.000152	T	0.69061	0.3069	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73898	-0.3837	10	0.72032	D	0.01	.	19.0309	0.92957	0.0:1.0:0.0:0.0	.	1798	P59510	ATS20_HUMAN	A	1798	ENSP00000374071:G1798A	ENSP00000374071:G1798A	G	-	2	0	ADAMTS20	42055502	1.000000	0.71417	0.954000	0.39281	0.014000	0.08584	6.409000	0.73289	2.660000	0.90430	0.557000	0.71058	GGA	ADAMTS20	-	pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs	ENSG00000173157		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	346	0.00	0	C	NM_025003		43769235	43769235	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	167	13.02	25	SNP	1.000	G
ADAMTS3	9508	genome.wustl.edu	37	4	73185063	73185063	+	Silent	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:73185063C>A	ENST00000286657.4	-	9	1374	c.1338G>T	c.(1336-1338)ctG>ctT	p.L446L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	446	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATATCTTTTCAGTTCTTGAC	0.438																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													139.0	116.0	124.0					4																	73185063		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1338G>T	4.37:g.73185063C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L446	ENST00000286657.4	37	c.1338	CCDS3553.1	4																																																																																			ADAMTS3	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000156140		0.438	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	124	0.00	0	C			73185063	73185063	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	silent	76	12.64	11	SNP	1.000	A
ADAT1	23536	genome.wustl.edu	37	16	75646670	75646670	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:75646670C>G	ENST00000307921.3	-	7	659	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	172	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTACTGGCTTCTACTGATGAG	0.488																																						dbGAP											0													80.0	84.0	83.0					16																	75646670		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.514G>C	16.37:g.75646670C>G	ENSP00000310015:p.Glu172Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.E172Q	ENST00000307921.3	37	c.514	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377196	0.24944	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.14640	2.49	5.75	3.8	0.43715	Adenosine deaminase/editase (3);	2.068560	0.01675	N	0.025838	T	0.15349	0.0370	L	0.45581	1.43	0.09310	N	1	B	0.19200	0.034	B	0.23018	0.043	T	0.40289	-0.9571	10	0.14252	T	0.57	-1.2095	7.22	0.25981	0.0:0.7099:0.1407:0.1494	.	172	Q9BUB4	ADAT1_HUMAN	Q	172;143	ENSP00000310015:E172Q	ENSP00000310015:E172Q	E	-	1	0	ADAT1	74204171	0.026000	0.19158	0.015000	0.15790	0.014000	0.08584	0.620000	0.24403	0.772000	0.33382	0.655000	0.94253	GAA	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000065457		0.488	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1	214	0.00	0	C	NM_012091		75646670	75646670	-1	no_errors	ENST00000307921	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.006	G
ADCY3	109	genome.wustl.edu	37	2	25141245	25141245	+	Silent	SNP	G	G	A	rs79278464		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:25141245G>A	ENST00000260600.5	-	1	1463	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	204					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGACCCCCAGGACCAACGTGT	0.632																																						dbGAP											0													51.0	57.0	55.0					2																	25141245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.612C>T	2.37:g.25141245G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V204	ENST00000260600.5	37	c.612	CCDS1715.1	2																																																																																			ADCY3	-	NULL	ENSG00000138031		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	55	0.00	0	G			25141245	25141245	-1	no_errors	ENST00000260600	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.939	A
ADPRHL2	54936	genome.wustl.edu	37	1	36557534	36557534	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:36557534G>A	ENST00000373178.4	+	4	570	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	180						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CGGCCCAGCTGACACACGCCT	0.647																																						dbGAP											0													55.0	57.0	56.0					1																	36557534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.540G>A	1.37:g.36557534G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G94|Q6IAB8|Q9BY47	Silent	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	p.L180	ENST00000373178.4	37	c.540	CCDS402.1	1																																																																																			ADPRHL2	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	ENSG00000116863		0.647	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL2	HGNC	protein_coding	OTTHUMT00000020199.1	169	0.00	0	G	NM_017825		36557534	36557534	+1	no_errors	ENST00000373178	ensembl	human	known	69_37n	silent	128	10.49	15	SNP	1.000	A
AFAP1L1	134265	genome.wustl.edu	37	5	148689611	148689611	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:148689611G>A	ENST00000296721.4	+	8	938	c.840G>A	c.(838-840)aaG>aaA	p.K280K	AFAP1L1_ENST00000515000.1_Silent_p.K280K	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	280	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCACAAGAGGCACGAGC	0.612																																						dbGAP											0													75.0	66.0	69.0					5																	148689611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.840G>A	5.37:g.148689611G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K280	ENST00000296721.4	37	c.840	CCDS34274.1	5																																																																																			AFAP1L1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157510		0.612	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	98	0.00	0	G	NM_152406		148689611	148689611	+1	no_errors	ENST00000296721	ensembl	human	known	69_37n	silent	31	33.33	16	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	148062291	148062291	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:148062291G>C	ENST00000370460.2	+	19	4073	c.3594G>C	c.(3592-3594)caG>caC	p.Q1198H	AFF2_ENST00000342251.3_Missense_Mutation_p.Q1165H|AFF2_ENST00000286437.5_Missense_Mutation_p.Q839H|AFF2_ENST00000370457.5_Missense_Mutation_p.Q1163H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1198					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCGCACAGATACCCTCTC	0.353																																						dbGAP											0													88.0	87.0	88.0					X																	148062291		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3594G>C	X.37:g.148062291G>C	ENSP00000359489:p.Gln1198His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.Q1198H	ENST00000370460.2	37	c.3594	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433124	0.25813	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	6.07	5.2	0.72013	.	0.124757	0.53938	N	0.000042	D	0.84889	0.5572	M	0.85630	2.765	0.44880	D	0.997899	B;D;B;B;B;B	0.64830	0.417;0.994;0.355;0.023;0.023;0.125	P;D;B;B;B;B	0.71184	0.639;0.972;0.273;0.011;0.011;0.046	D	0.85192	0.1010	10	0.56958	D	0.05	.	7.4994	0.27509	0.14:0.0:0.7214:0.1386	.	839;1163;1163;1159;1188;1198	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	1198;1163;1165;839	ENSP00000359489:Q1198H;ENSP00000359486:Q1163H;ENSP00000345459:Q1165H;ENSP00000286437:Q839H	ENSP00000286437:Q839H	Q	+	3	2	AFF2	147869975	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	2.597000	0.46214	1.297000	0.44761	-0.237000	0.12165	CAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.353	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	180	0.00	0	G	NM_002025		148062291	148062291	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	C
AGTPBP1	23287	genome.wustl.edu	37	9	88162079	88162079	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:88162079G>A	ENST00000357081.3	-	26	3770	c.3626C>T	c.(3625-3627)tCt>tTt	p.S1209F	AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1169F|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1221F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1209					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCTTGAGCAGAAGGTTCATA	0.373																																						dbGAP											0													150.0	139.0	143.0					9																	88162079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3626C>T	9.37:g.88162079G>A	ENSP00000349592:p.Ser1209Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.S1221F	ENST00000357081.3	37	c.3662		9	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563998	0.45694	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.21191	2.07;2.07;2.02	6.03	4.1	0.47936	.	0.231603	0.45361	D	0.000371	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48503	0.004;0.855;0.911	B;B;P	0.44811	0.007;0.36;0.461	T	0.03034	-1.1080	10	0.56958	D	0.05	-13.771	7.8775	0.29603	0.0652:0.1179:0.6949:0.122	.	1221;1209;1169	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	1209;1169;1221	ENSP00000349592:S1209F;ENSP00000365251:S1169F;ENSP00000365277:S1221F	ENSP00000349592:S1209F	S	-	2	0	AGTPBP1	87351899	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.683000	0.37638	1.563000	0.49615	0.655000	0.94253	TCT	AGTPBP1	-	NULL	ENSG00000135049		0.373	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	358	0.00	0	G	NM_015239		88162079	88162079	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	145	20.77	38	SNP	1.000	A
AHCYL2	23382	genome.wustl.edu	37	7	129029010	129029010	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:129029010G>C	ENST00000325006.3	+	3	643	c.589G>C	c.(589-591)Gga>Cga	p.G197R	AHCYL2_ENST00000446544.2_Missense_Mutation_p.G196R|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G95R|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G116R|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G94R|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G94R	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	197					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGCAGAGTTTGGACGAAGAGA	0.398																																					Pancreas(160;1736 1964 29875 40941 45605)	dbGAP											0													108.0	98.0	102.0					7																	129029010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.589G>C	7.37:g.129029010G>C	ENSP00000315931:p.Gly197Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.G197R	ENST00000325006.3	37	c.589	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792120|4.792120	0.90453|0.90453	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993|ENST00000466924	D;D;D;D;D;D;D|.	0.93366|.	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-2.13|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91236|0.91236	0.7238|0.7238	H|H	0.98936|0.98936	4.375|4.375	0.80722|0.80722	D|D	1|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|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.94496|0.94496	0.7705|0.7705	10|5	0.87932|.	D|.	0|.	-10.2771|-10.2771	18.6782|18.6782	0.91537|0.91537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	94;95;197;94;196|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	R|F	197;196;116;94;95;94;95|103	ENSP00000315931:G197R;ENSP00000413639:G196R;ENSP00000431787:G116R;ENSP00000420459:G94R;ENSP00000405267:G95R;ENSP00000420801:G94R;ENSP00000419608:G95R|.	ENSP00000315931:G197R|.	G|L	+|+	1|3	0|2	AHCYL2|AHCYL2	128816246|128816246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	GGA|TTG	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000158467		0.398	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	139	0.00	0	G			129029010	129029010	+1	no_errors	ENST00000325006	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	1.000	C
AHNAK	79026	genome.wustl.edu	37	11	62285902	62285902	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:62285902G>C	ENST00000378024.4	-	5	16261	c.15987C>G	c.(15985-15987)ctC>ctG	p.L5329L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5329					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACTGAGGTTGAGCCCTGGAG	0.537																																						dbGAP											0													101.0	92.0	95.0					11																	62285902		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15987C>G	11.37:g.62285902G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L5329	ENST00000378024.4	37	c.15987	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	59	0.00	0	G	NM_024060		62285902	62285902	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	0.708	C
AHNAK2	113146	genome.wustl.edu	37	14	105416670	105416670	+	Silent	SNP	G	G	A	rs536803666	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:105416670G>A	ENST00000333244.5	-	7	5237	c.5118C>T	c.(5116-5118)ctC>ctT	p.L1706L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1706						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)			ACTGAATGCTGAGGTCAGTGG	0.637																																						dbGAP											0													116.0	136.0	130.0					14																	105416670		1902	4082	5984	-	-	-	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5118C>T	14.37:g.105416670G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1706	ENST00000333244.5	37	c.5118	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	208	0.00	0	G	NM_138420		105416670	105416670	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	150	13.71	24	SNP	0.000	A
AK3	50808	genome.wustl.edu	37	9	4718472	4718472	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:4718472G>C	ENST00000381809.3	-	4	740	c.510C>G	c.(508-510)atC>atG	p.I170M	AK3_ENST00000447596.4_Missense_Mutation_p.I130M|AK3_ENST00000359883.2_Missense_Mutation_p.I100M	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	168					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TTAGTCTCTTGATAACCGTCT	0.433																																						dbGAP											0													149.0	135.0	140.0					9																	4718472		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.510C>G	9.37:g.4718472G>C	ENSP00000371230:p.Ile170Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.I170M	ENST00000381809.3	37	c.510	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568726	0.28003	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	T;T;T	0.76316	-1.01;-1.01;-1.01	5.36	1.48	0.22813	.	0.359642	0.34156	N	0.004214	T	0.61223	0.2330	N	0.25485	0.75	0.28477	N	0.915155	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.52525	-0.8564	10	0.52906	T	0.07	-2.9591	6.0692	0.19879	0.2851:0.1257:0.5892:0.0	.	130;170	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	170;100;100;130	ENSP00000371230:I170M;ENSP00000352948:I100M;ENSP00000413933:I130M	ENSP00000352948:I100M	I	-	3	3	AK3	4708472	0.999000	0.42202	0.234000	0.24042	0.952000	0.60782	0.666000	0.25097	0.013000	0.14918	0.655000	0.94253	ATC	AK3	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000147853		0.433	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1	309	0.00	0	G	NM_016282		4718472	4718472	-1	no_errors	ENST00000381809	ensembl	human	known	69_37n	missense	218	12.45	31	SNP	0.955	C
AKAP11	11215	genome.wustl.edu	37	13	42871200	42871200	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:42871200C>G	ENST00000025301.2	+	6	408	c.233C>G	c.(232-234)tCt>tGt	p.S78C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	78					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCTGCAGTTTCTTTGGAACTT	0.294																																						dbGAP											0													64.0	70.0	68.0					13																	42871200		2198	4282	6480	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.233C>G	13.37:g.42871200C>G	ENSP00000025301:p.Ser78Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.S78C	ENST00000025301.2	37	c.233	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607023	0.66558	.	.	ENSG00000023516	ENST00000025301	T	0.21734	1.99	5.92	5.92	0.95590	.	0.140862	0.51477	D	0.000100	T	0.40473	0.1118	L	0.47716	1.5	0.39220	D	0.963473	D	0.89917	1.0	D	0.76575	0.988	T	0.17319	-1.0373	10	0.87932	D	0	.	15.0911	0.72195	0.1416:0.8583:0.0:0.0	.	78	Q9UKA4	AKA11_HUMAN	C	78	ENSP00000025301:S78C	ENSP00000025301:S78C	S	+	2	0	AKAP11	41769200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.411000	0.52672	2.810000	0.96702	0.585000	0.79938	TCT	AKAP11	-	NULL	ENSG00000023516		0.294	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	140	0.00	0	C	NM_016248		42871200	42871200	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	G
AKAP11	11215	genome.wustl.edu	37	13	42874661	42874661	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:42874661G>C	ENST00000025301.2	+	8	1954	c.1779G>C	c.(1777-1779)caG>caC	p.Q593H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	593					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGTTTTGCAGATGGCATTTG	0.403																																						dbGAP											0													84.0	83.0	83.0					13																	42874661		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1779G>C	13.37:g.42874661G>C	ENSP00000025301:p.Gln593His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.Q593H	ENST00000025301.2	37	c.1779	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787877	0.49997	.	.	ENSG00000023516	ENST00000025301	T	0.20069	2.1	6.07	3.18	0.36537	.	0.065337	0.64402	D	0.000010	T	0.37785	0.1016	M	0.69823	2.125	0.44976	D	0.997993	D	0.89917	1.0	D	0.72338	0.977	T	0.19976	-1.0289	10	0.66056	D	0.02	.	4.7026	0.12834	0.2727:0.0:0.5577:0.1696	.	593	Q9UKA4	AKA11_HUMAN	H	593	ENSP00000025301:Q593H	ENSP00000025301:Q593H	Q	+	3	2	AKAP11	41772661	0.985000	0.35326	1.000000	0.80357	0.977000	0.68977	0.217000	0.17603	1.590000	0.49995	0.585000	0.79938	CAG	AKAP11	-	NULL	ENSG00000023516		0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	119	0.00	0	G	NM_016248		42874661	42874661	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	C
AKAP11	11215	genome.wustl.edu	37	13	42875998	42875998	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:42875998C>T	ENST00000025301.2	+	8	3291	c.3116C>T	c.(3115-3117)tCt>tTt	p.S1039F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1039					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGAAGGAATCTGCTAAGGAT	0.423																																						dbGAP											0													113.0	109.0	110.0					13																	42875998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3116C>T	13.37:g.42875998C>T	ENSP00000025301:p.Ser1039Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.S1039F	ENST00000025301.2	37	c.3116	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603574	0.14002	.	.	ENSG00000023516	ENST00000025301	T	0.14766	2.48	5.8	-2.93	0.05598	.	1.072750	0.07260	N	0.867324	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.18263	0.021	T	0.42732	-0.9434	10	0.54805	T	0.06	.	8.754	0.34635	0.1247:0.5749:0.0:0.3004	.	1039	Q9UKA4	AKA11_HUMAN	F	1039	ENSP00000025301:S1039F	ENSP00000025301:S1039F	S	+	2	0	AKAP11	41773998	0.000000	0.05858	0.011000	0.14972	0.508000	0.34012	-0.180000	0.09754	-0.140000	0.11394	-0.290000	0.09829	TCT	AKAP11	-	NULL	ENSG00000023516		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	169	0.00	0	C	NM_016248		42875998	42875998	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	0.000	T
ALDH16A1	126133	genome.wustl.edu	37	19	49965874	49965874	+	Missense_Mutation	SNP	G	G	A	rs536067781		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:49965874G>A	ENST00000293350.4	+	8	1123	c.960G>A	c.(958-960)atG>atA	p.M320I	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.M157I|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.M155I|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.M269I	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	320						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGAAGCCATGAGACGGCTGC	0.647																																						dbGAP											0													64.0	68.0	67.0					19																	49965874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.960G>A	19.37:g.49965874G>A	ENSP00000293350:p.Met320Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.M320I	ENST00000293350.4	37	c.960	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	1.997	-0.430410	0.04669	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	4.93	3.87	0.44632	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.430831	0.28088	N	0.016649	T	0.53916	0.1826	N	0.13098	0.295	0.09310	N	1	B;B;B	0.27013	0.065;0.166;0.139	B;B;B	0.25291	0.023;0.059;0.042	T	0.34551	-0.9824	10	0.13108	T	0.6	-16.1257	11.443	0.50107	0.0:0.1828:0.8172:0.0	.	157;269;320	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	I	320;269;157;155	ENSP00000293350:M320I;ENSP00000410142:M269I;ENSP00000445088:M157I;ENSP00000398675:M155I	ENSP00000293350:M320I	M	+	3	0	ALDH16A1	54657686	0.765000	0.28485	0.526000	0.27913	0.035000	0.12851	2.392000	0.44433	1.191000	0.43056	0.485000	0.47835	ATG	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.647	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	84	0.00	0	G	NM_153329		49965874	49965874	+1	no_errors	ENST00000293350	ensembl	human	known	69_37n	missense	52	13.33	8	SNP	0.088	A
ALKBH8	91801	genome.wustl.edu	37	11	107403094	107403094	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:107403094C>T	ENST00000428149.2	-	8	961	c.810G>A	c.(808-810)gtG>gtA	p.V270V	ALKBH8_ENST00000417449.2_Silent_p.V273V|ALKBH8_ENST00000389568.3_Silent_p.V270V|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	270	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ACATAACTGGCACTGCAATGC	0.388																																						dbGAP											0													95.0	89.0	91.0					11																	107403094		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.810G>A	11.37:g.107403094C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Silent	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.V273	ENST00000428149.2	37	c.819	CCDS8337.2	11																																																																																			ALKBH8	-	pfam_Oxoglu/Fe-dep_dioxygenase	ENSG00000137760		0.388	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	139	0.00	0	C	NM_138775		107403094	107403094	-1	no_errors	ENST00000417449	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.993	T
ALLC	55821	genome.wustl.edu	37	2	3729280	3729280	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:3729280G>C	ENST00000252505.3	+	6	517	c.355G>C	c.(355-357)Gag>Cag	p.E119Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	138					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGCCACTCCTGAGGAGTTTGA	0.463										HNSCC(21;0.051)																												dbGAP											0													52.0	58.0	56.0					2																	3729280		1921	4121	6042	-	-	-	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.355G>C	2.37:g.3729280G>C	ENSP00000252505:p.Glu119Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.E119Q	ENST00000252505.3	37	c.355	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	6.766	0.510173	0.12883	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.98	4.07	0.47477	Allantoicase domain (1);Galactose-binding domain-like (1);	0.411519	0.29486	N	0.012010	T	0.45418	0.1341	M	0.71920	2.185	0.27661	N	0.947069	B	0.32283	0.362	B	0.30105	0.111	T	0.46148	-0.9212	9	0.46703	T	0.11	-2.052	10.9998	0.47598	0.0:0.2466:0.7534:0.0	.	138	Q8N6M5	ALLC_HUMAN	Q	119	.	ENSP00000252505:E119Q	E	+	1	0	ALLC	3707155	1.000000	0.71417	0.379000	0.26080	0.007000	0.05969	3.793000	0.55484	1.340000	0.45581	0.650000	0.86243	GAG	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.463	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	138	0.00	0	G			3729280	3729280	+1	no_errors	ENST00000252505	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	0.752	C
ALOX5	240	genome.wustl.edu	37	10	45936913	45936913	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:45936913G>A	ENST00000374391.2	+	9	1325				ALOX5_ENST00000542434.1_Intron	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TTGCCTGGAAGAGCCCAGCCT	0.577																																						dbGAP											0													92.0	86.0	88.0					10																	45936913		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1272+35G>A	10.37:g.45936913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	RNA	SNP	-	NULL	ENST00000374391.2	37	NULL	CCDS7212.1	10																																																																																			ALOX5	-	-	ENSG00000012779		0.577	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	99	0.00	0	G			45936913	45936913	+1	no_errors	ENST00000475300	ensembl	human	known	69_37n	rna	70	20.45	18	SNP	0.000	A
ALS2	57679	genome.wustl.edu	37	2	202614505	202614505	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:202614505G>A	ENST00000264276.6	-	8	2117	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	582					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCTACCCCATGAGTAAACCTA	0.353																																						dbGAP											0													99.0	93.0	95.0					2																	202614505		1845	4083	5928	-	-	-	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1745C>T	2.37:g.202614505G>A	ENSP00000264276:p.Ser582Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.S582L	ENST00000264276.6	37	c.1745	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.211432	0.95069	.	.	ENSG00000003393	ENST00000264276	D	0.87334	-2.24	5.87	5.87	0.94306	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.133518	0.52532	D	0.000066	D	0.95121	0.8419	M	0.92833	3.35	0.80722	D	1	P;D;D	0.71674	0.912;0.998;0.992	P;D;P	0.69654	0.475;0.965;0.883	D	0.93949	0.7230	10	0.39692	T	0.17	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	582;582;582	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	L	582	ENSP00000264276:S582L	ENSP00000264276:S582L	S	-	2	0	ALS2	202322750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.565000	0.90730	2.941000	0.99782	0.655000	0.94253	TCA	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,prints_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000003393		0.353	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	182	0.00	0	G	NM_020919		202614505	202614505	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	1.000	A
AMPH	273	genome.wustl.edu	37	7	38475929	38475929	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:38475929G>C	ENST00000356264.2	-	12	1292	c.1077C>G	c.(1075-1077)ttC>ttG	p.F359L	AMPH_ENST00000428293.2_Missense_Mutation_p.F359L|AMPH_ENST00000325590.5_Missense_Mutation_p.F359L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	359					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTCGGGCTTGAAAGGATCAA	0.428																																						dbGAP											0													86.0	77.0	80.0					7																	38475929		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1077C>G	7.37:g.38475929G>C	ENSP00000348602:p.Phe359Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.F359L	ENST00000356264.2	37	c.1077	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614855|1.614855	0.28712|0.28712	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.63580|.	-0.05;-0.05;-0.05|.	5.54|5.54	4.63|4.63	0.57726|0.57726	.|.	0.110405|.	0.64402|.	D|.	0.000006|.	T|T	0.43567|0.43567	0.1253|0.1253	L|L	0.29908|0.29908	0.895|0.895	0.46317|0.46317	D|D	0.998985|0.998985	P;P;B|.	0.49559|.	0.77;0.925;0.451|.	P;B;B|.	0.46362|.	0.514;0.395;0.115|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.02654|.	T|.	1|.	-13.0708|-13.0708	6.6467|6.6467	0.22939|0.22939	0.1432:0.0:0.7088:0.148|0.1432:0.0:0.7088:0.148	.|.	359;359;115|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	L|E	359;359;359;129;362|110	ENSP00000317441:F359L;ENSP00000348602:F359L;ENSP00000390734:F359L|.	ENSP00000317441:F359L|.	F|Q	-|-	3|1	2|0	AMPH|AMPH	38442454|38442454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	4.087000|4.087000	0.57671|0.57671	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	TTC|CAA	AMPH	-	NULL	ENSG00000078053		0.428	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	175	0.00	0	G	NM_001635		38475929	38475929	-1	no_errors	ENST00000356264	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	1.000	C
ANAPC5	51433	genome.wustl.edu	37	12	121746349	121746349	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:121746349C>T	ENST00000261819.3	-	17	2323	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	ANAPC5_ENST00000344395.4_Silent_p.A622A|ANAPC5_ENST00000441917.2_Silent_p.A622A|ANAPC5_ENST00000535482.1_Silent_p.A400A|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.A721A	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAAGAGCATCGCACACCGGT	0.562																																						dbGAP											0													109.0	103.0	105.0					12																	121746349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2202G>A	12.37:g.121746349C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	smart_TPR_repeat	p.A734	ENST00000261819.3	37	c.2202	CCDS9220.1	12																																																																																			ANAPC5	-	NULL	ENSG00000089053		0.562	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	84	0.00	0	C			121746349	121746349	-1	no_errors	ENST00000261819	ensembl	human	known	69_37n	silent	61	26.51	22	SNP	0.346	T
ANKRD12	23253	genome.wustl.edu	37	18	9254693	9254693	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:9254693G>C	ENST00000262126.4	+	9	1668	c.1428G>C	c.(1426-1428)ttG>ttC	p.L476F	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L453F|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L453F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	476						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaagaaaattgaaaaatcaga	0.318																																						dbGAP											0													23.0	26.0	25.0					18																	9254693		2185	4283	6468	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1428G>C	18.37:g.9254693G>C	ENSP00000262126:p.Leu476Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L476F	ENST00000262126.4	37	c.1428	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381086	0.24944	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.06449	3.3;3.46	5.95	2.31	0.28768	.	0.284239	0.34906	N	0.003585	T	0.12135	0.0295	L	0.54323	1.7	0.38455	D	0.947068	D;D;P	0.63880	0.993;0.958;0.93	P;P;P	0.60682	0.878;0.682;0.483	T	0.29549	-1.0008	10	0.09590	T	0.72	-13.601	8.5329	0.33346	0.7075:0.0:0.2925:0.0	.	103;453;476	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	F	453;476;183	ENSP00000372932:L453F;ENSP00000262126:L476F	ENSP00000262126:L476F	L	+	3	2	ANKRD12	9244693	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.806000	0.38892	0.162000	0.19483	-0.312000	0.09012	TTG	ANKRD12	-	NULL	ENSG00000101745		0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	32	0.00	0	G	NM_015208		9254693	9254693	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	7	30.00	3	SNP	1.000	C
ANKRD18CP	100287922	genome.wustl.edu	37	9	99922660	99922660	+	IGR	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:99922660G>C								RP11-520B13.4 (78433 upstream) : RNU6-798P (32544 downstream)																							GCTTGGTGCTGATCACTGCTA	0.363																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															9.37:g.99922660G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		9																																																																																			ANKRD18CP	-	-	ENSG00000159712	0	0.363					ANKRD18CP	HGNC			112	0.00	0	G			99922660	99922660	-1	no_errors	ENST00000354752	ensembl	human	known	69_37n	rna	50	13.79	8	SNP	0.002	C
ANKRD32	84250	genome.wustl.edu	37	5	93988976	93988976	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:93988976G>C	ENST00000265140.5	+	8	1301		c.e8-1			NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32							centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATACATGTAGAAGGAAATTA	0.308																																						dbGAP											0													99.0	86.0	90.0					5																	93988976		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.883-1G>C	5.37:g.93988976G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Splice_Site	SNP	-	e7-1	ENST00000265140.5	37	c.883-1	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893494	0.52121	.	.	ENSG00000133302	ENST00000265140	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0332	0.58854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD32	94014732	1.000000	0.71417	0.988000	0.46212	0.801000	0.45260	2.552000	0.45828	2.339000	0.79563	0.655000	0.94253	.	ANKRD32	-	-	ENSG00000133302		0.308	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	197	0.00	0	G	NM_032290	Intron	93988976	93988976	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	splice_site	65	25.29	22	SNP	0.997	C
ANKRD36C	400986	genome.wustl.edu	37	2	96657421	96657421	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:96657421G>A	ENST00000456556.1	-	1	120	c.36C>T	c.(34-36)ctC>ctT	p.L12L				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	12							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGCGGTCCCTGAGGGTGGGCC	0.552																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.36C>T	2.37:g.96657421G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L12	ENST00000456556.1	37	c.36		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.552	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	115	0.00	0	G	NM_001010914		96657421	96657421	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	silent	61	14.08	10	SNP	0.016	A
ANLN	54443	genome.wustl.edu	37	7	36447421	36447421	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:36447421C>G	ENST00000265748.2	+	5	1173	c.952C>G	c.(952-954)Cca>Gca	p.P318A	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.P318A	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	318	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAGCTACTTCCAAAAACTCC	0.398																																						dbGAP											0													82.0	87.0	85.0					7																	36447421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.952C>G	7.37:g.36447421C>G	ENSP00000265748:p.Pro318Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P318A	ENST00000265748.2	37	c.952	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	C	1.600	-0.526669	0.04141	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.10763	2.86;2.84	5.24	4.34	0.51931	.	1.107840	0.06517	N	0.738925	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.002;0.001	B;B;B;B	0.12156	0.003;0.005;0.007;0.003	T	0.17806	-1.0357	10	0.06757	T	0.87	-0.997	12.9446	0.58365	0.3088:0.6912:0.0:0.0	.	195;318;318;318	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	A	318	ENSP00000265748:P318A;ENSP00000379380:P318A	ENSP00000265748:P318A	P	+	1	0	ANLN	36413946	0.000000	0.05858	0.032000	0.17829	0.013000	0.08279	0.349000	0.20055	1.491000	0.48482	0.591000	0.81541	CCA	ANLN	-	NULL	ENSG00000011426		0.398	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	175	0.00	0	C	NM_018685		36447421	36447421	+1	no_errors	ENST00000265748	ensembl	human	known	69_37n	missense	90	10.00	10	SNP	0.005	G
AP1G2	8906	genome.wustl.edu	37	14	24035526	24035526	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:24035526C>G	ENST00000308724.5	-	3	1187	c.432G>C	c.(430-432)gaG>gaC	p.E144D	AP1G2_ENST00000397120.3_Missense_Mutation_p.E144D|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	144					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGAGCAGTTTCTCCACCTCTG	0.602																																						dbGAP											0													68.0	65.0	66.0					14																	24035526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.432G>C	14.37:g.24035526C>G	ENSP00000312442:p.Glu144Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS51|O75504	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.E144D	ENST00000308724.5	37	c.432	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747698	0.49257	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.27402	1.67;1.67;1.67	5.01	-0.217	0.13149	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050770	0.85682	D	0.000000	T	0.37517	0.1006	M	0.77103	2.36	0.80722	D	1	B;B	0.26081	0.107;0.141	B;B	0.38755	0.122;0.281	T	0.20907	-1.0261	10	0.49607	T	0.09	-18.0904	8.7046	0.34347	0.0:0.4054:0.0:0.5946	.	144;144	G3V532;O75843	.;AP1G2_HUMAN	D	144	ENSP00000312442:E144D;ENSP00000380309:E144D;ENSP00000452153:E144D	ENSP00000312442:E144D	E	-	3	2	AP1G2	23105366	0.948000	0.32251	0.993000	0.49108	0.949000	0.60115	0.084000	0.14891	-0.229000	0.09854	-0.367000	0.07326	GAG	AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.602	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	69	0.00	0	C	NM_003917		24035526	24035526	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.997	G
AP4S1	11154	genome.wustl.edu	37	14	31542162	31542162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:31542162G>T	ENST00000542754.2	+	4	670	c.277G>T	c.(277-279)Gag>Tag	p.E93*	AP4S1_ENST00000554345.1_Nonsense_Mutation_p.E93*|AP4S1_ENST00000554609.1_Nonsense_Mutation_p.E93*|AP4S1_ENST00000313566.6_Nonsense_Mutation_p.E93*|AP4S1_ENST00000216366.4_Nonsense_Mutation_p.E93*|AP4S1_ENST00000334725.4_Nonsense_Mutation_p.E93*	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	93						coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		AGTTTTAGATGAGTATTTCAG	0.353																																					Pancreas(128;620 2365 4508 44145)	dbGAP											0													148.0	141.0	144.0					14																	31542162		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.277G>T	14.37:g.31542162G>T	ENSP00000438170:p.Glu93*	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Nonsense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.E93*	ENST00000542754.2	37	c.277	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.971280	0.97156	.	.	ENSG00000100478	ENST00000557346;ENST00000542754;ENST00000313566;ENST00000556232;ENST00000216366;ENST00000334725;ENST00000554609;ENST00000554345;ENST00000556480	.	.	.	5.48	4.36	0.52297	.	0.356819	0.34906	N	0.003586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3246	0.11034	0.3074:0.0:0.6926:0.0	.	.	.	.	X	93;93;93;93;93;93;93;93;60	.	ENSP00000216366:E93X	E	+	1	0	AP4S1	30611913	1.000000	0.71417	0.946000	0.38457	0.983000	0.72400	6.250000	0.72435	2.763000	0.94921	0.650000	0.86243	GAG	AP4S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000100478		0.353	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1	393	0.00	0	G			31542162	31542162	+1	no_errors	ENST00000216366	ensembl	human	known	69_37n	nonsense	198	12.33	28	SNP	0.999	T
AP5Z1	9907	genome.wustl.edu	37	7	4820902	4820902	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:4820902G>C	ENST00000348624.4	+	2	232	c.138G>C	c.(136-138)caG>caC	p.Q46H	AP5Z1_ENST00000401897.1_Missense_Mutation_p.Q46H	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	46					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTCCCTGCAGAGGCTCTTCC	0.622																																						dbGAP											0													42.0	49.0	47.0					7																	4820902		2081	4233	6314	-	-	-	SO:0001583	missense	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.138G>C	7.37:g.4820902G>C	ENSP00000297562:p.Gln46His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3X2|Q96H80	Missense_Mutation	SNP	NULL	p.Q46H	ENST00000348624.4	37	c.138	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373389	0.61624	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.64803	-0.12;0.77	5.58	2.32	0.28847	.	0.485848	0.21933	N	0.066996	T	0.71022	0.3291	M	0.66939	2.045	0.42493	D	0.992908	D	0.63880	0.993	D	0.64144	0.922	T	0.70791	-0.4776	10	0.66056	D	0.02	.	7.7385	0.28827	0.1691:0.1394:0.6914:0.0	.	46	O43299	K0415_HUMAN	H	46	ENSP00000297562:Q46H;ENSP00000384980:Q46H	ENSP00000297562:Q46H	Q	+	3	2	KIAA0415	4787428	1.000000	0.71417	0.966000	0.40874	0.715000	0.41141	0.927000	0.28818	0.701000	0.31803	0.655000	0.94253	CAG	AP5Z1	-	NULL	ENSG00000242802		0.622	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	70	0.00	0	G			4820902	4820902	+1	no_errors	ENST00000348624	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.999	C
APAF1	317	genome.wustl.edu	37	12	99043418	99043418	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:99043418C>G	ENST00000551964.1	+	4	1218	c.482C>G	c.(481-483)tCt>tGt	p.S161C	APAF1_ENST00000552268.1_Missense_Mutation_p.S161C|APAF1_ENST00000333991.1_Missense_Mutation_p.S161C|APAF1_ENST00000547045.1_Missense_Mutation_p.S161C|APAF1_ENST00000359972.2_Missense_Mutation_p.S150C|APAF1_ENST00000550527.1_Missense_Mutation_p.S150C|APAF1_ENST00000357310.1_Missense_Mutation_p.S161C|APAF1_ENST00000339433.3_Missense_Mutation_p.S161C|APAF1_ENST00000549007.1_Missense_Mutation_p.S161C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	161	NB-ARC.			S -> F (in Ref. 2; CAB55586). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTGGGAAGTCTGTATTAGCT	0.413																																						dbGAP											0													92.0	84.0	87.0					12																	99043418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.482C>G	12.37:g.99043418C>G	ENSP00000448165:p.Ser161Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S161C	ENST00000551964.1	37	c.482	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062681	0.76187	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.55	5.55	0.83447	NB-ARC (1);	0.151779	0.64402	D	0.000009	D	0.91590	0.7343	M	0.67700	2.07	0.58432	D	0.999998	D;D;D;D;P	0.76494	0.999;0.983;0.997;0.997;0.947	P;P;D;D;P	0.66847	0.864;0.864;0.933;0.947;0.544	D	0.92064	0.5659	10	0.87932	D	0	-15.2054	19.4873	0.95035	0.0:1.0:0.0:0.0	.	161;161;150;161;150	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	161;150;161;161;161;161;150;161;161	ENSP00000448165:S161C;ENSP00000353059:S150C;ENSP00000349862:S161C;ENSP00000341830:S161C;ENSP00000334558:S161C;ENSP00000448826:S161C;ENSP00000448449:S150C;ENSP00000449791:S161C;ENSP00000448161:S161C	ENSP00000334558:S161C	S	+	2	0	APAF1	97567549	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.597000	0.82733	2.611000	0.88343	0.655000	0.94253	TCT	APAF1	-	pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1,prints_Disease_R	ENSG00000120868		0.413	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	244	0.00	0	C	NM_181861.1		99043418	99043418	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	missense	132	10.74	16	SNP	1.000	G
APBB1IP	54518	genome.wustl.edu	37	10	26825036	26825036	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:26825036G>C	ENST00000376236.4	+	10	1389	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	312	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CATTGTACCAGAACTGGAAGG	0.378																																						dbGAP											0													101.0	111.0	107.0					10																	26825036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.934G>C	10.37:g.26825036G>C	ENSP00000365411:p.Glu312Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.E312Q	ENST00000376236.4	37	c.934	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.177446	0.94846	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.18502	2.21	5.83	5.83	0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045033	0.85682	D	0.000000	T	0.41442	0.1159	M	0.62266	1.93	0.80722	D	1	P;D	0.65815	0.763;0.995	P;D	0.67900	0.857;0.954	T	0.03175	-1.1064	10	0.49607	T	0.09	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	312;312	B4E100;Q7Z5R6	.;AB1IP_HUMAN	Q	312	ENSP00000365411:E312Q	ENSP00000365411:E312Q	E	+	1	0	APBB1IP	26865042	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	GAA	APBB1IP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000077420		0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	123	0.00	0	G	NM_019043		26825036	26825036	+1	no_errors	ENST00000376236	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	C
APOF	319	genome.wustl.edu	37	12	56755654	56755654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:56755654G>T	ENST00000398189.3	-	2	413	c.336C>A	c.(334-336)taC>taA	p.Y112*	STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Nonsense_Mutation_p.Y94*|STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000557235.1_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	112					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CACCCTGGCGGTAGAGCTGTA	0.562																																						dbGAP											0													65.0	65.0	65.0					12																	56755654		2077	4235	6312	-	-	-	SO:0001587	stop_gained	0			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.336C>A	12.37:g.56755654G>T	ENSP00000381250:p.Tyr112*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC13	Nonsense_Mutation	SNP	NULL	p.Y112*	ENST00000398189.3	37	c.336	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969181	0.34754	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	.	.	.	4.87	0.0304	0.14167	.	0.776989	0.10574	N	0.658744	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.021	7.3435	0.26650	0.4633:0.0:0.5367:0.0	.	.	.	.	X	112;94	.	ENSP00000381250:Y112X	Y	-	3	2	APOF	55041921	0.129000	0.22400	0.005000	0.12908	0.407000	0.30961	0.409000	0.21082	0.102000	0.17638	-0.137000	0.14449	TAC	APOF	-	NULL	ENSG00000175336		0.562	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	166	0.00	0	G			56755654	56755654	-1	no_errors	ENST00000398189	ensembl	human	known	69_37n	nonsense	105	19.23	25	SNP	0.001	T
APOL4	80832	genome.wustl.edu	37	22	36587940	36587940	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:36587940G>C	ENST00000405511.1	-	6	650	c.228C>G	c.(226-228)ctC>ctG	p.L76L	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.L79L|APOL4_ENST00000429038.2_Silent_p.L76L|APOL4_ENST00000332987.1_Silent_p.L76L|APOL4_ENST00000404685.3_Silent_p.L79L	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	79					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						GAGCTTCATAGAGAGCATCTG	0.388																																						dbGAP											0													77.0	76.0	76.0					22																	36587940		2031	4206	6237	-	-	-	SO:0001819	synonymous_variant	0			AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000405511.1:c.228C>G	22.37:g.36587940G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ37|Q9BXQ8	Silent	SNP	pfam_ApoL	p.L79	ENST00000405511.1	37	c.237		22																																																																																			APOL4	-	pfam_ApoL	ENSG00000100336		0.388	APOL4-002	PUTATIVE	basic	protein_coding	APOL4	HGNC	protein_coding	OTTHUMT00000319256.2	150	0.00	0	G	NM_145660		36587940	36587940	-1	no_errors	ENST00000352371	ensembl	human	known	69_37n	silent	68	11.54	9	SNP	0.000	C
AQP10	89872	genome.wustl.edu	37	1	154296361	154296361	+	Intron	SNP	C	C	T	rs556679086		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:154296361C>T	ENST00000324978.3	+	5	747				ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Silent_p.L262L|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGCACTCTGCCTTTAAA	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.707+79C>T	1.37:g.154296361C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3	p.L262	ENST00000324978.3	37	c.786	CCDS1065.1	1																																																																																			AQP10	-	NULL	ENSG00000143595		0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	38	0.00	0	C	NM_080429		154296361	154296361	+1	no_errors	ENST00000484864	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	0.000	T
ARHGAP18	93663	genome.wustl.edu	37	6	129959745	129959745	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:129959745C>T	ENST00000368149.2	-	3	434	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAACCGGCCTCTTTAAGCCAC	0.408																																						dbGAP											0													56.0	62.0	60.0					6																	129959745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.346G>A	6.37:g.129959745C>T	ENSP00000357131:p.Glu116Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E116K	ENST00000368149.2	37	c.346	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716965	0.89205	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.83	4.96	0.65561	.	0.101398	0.64402	N	0.000003	T	0.48840	0.1522	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.50066	0.931;0.774	P;B	0.46320	0.512;0.341	T	0.52147	-0.8614	8	.	.	.	.	14.8558	0.70335	0.0:0.9312:0.0:0.0687	.	116;116	A9UK01;Q8N392	.;RHG18_HUMAN	K	71;116	.	.	E	-	1	0	ARHGAP18	130001438	1.000000	0.71417	0.965000	0.40720	0.976000	0.68499	4.003000	0.57061	1.462000	0.47948	0.650000	0.86243	GAG	ARHGAP18	-	NULL	ENSG00000146376		0.408	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	169	0.00	0	C	NM_033515		129959745	129959745	-1	no_errors	ENST00000275189	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	1.000	T
ARHGAP32	9743	genome.wustl.edu	37	11	128839196	128839196	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:128839196G>C	ENST00000310343.9	-	22	5869	c.5870C>G	c.(5869-5871)tCt>tGt	p.S1957C	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1608C|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1608C|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1957	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCTGGGGCAGAAGGCTGCCT	0.507																																						dbGAP											0													97.0	96.0	96.0					11																	128839196		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5870C>G	11.37:g.128839196G>C	ENSP00000310561:p.Ser1957Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1957C	ENST00000310343.9	37	c.5870	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260918	0.39995	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.17854	2.25;2.25;2.25	6.07	6.07	0.98685	.	0.451350	0.22581	N	0.058217	T	0.10937	0.0267	N	0.08118	0	0.19300	N	0.999973	B	0.30709	0.291	B	0.31191	0.125	T	0.26985	-1.0087	10	0.72032	D	0.01	.	13.9955	0.64397	0.0712:0.0:0.9288:0.0	.	1957	A7KAX9	RHG32_HUMAN	C	1957;1608;1608	ENSP00000310561:S1957C;ENSP00000376425:S1608C;ENSP00000432862:S1608C	ENSP00000310561:S1957C	S	-	2	0	ARHGAP32	128344406	0.124000	0.22315	0.851000	0.33527	0.996000	0.88848	3.024000	0.49674	2.884000	0.98904	0.655000	0.94253	TCT	ARHGAP32	-	NULL	ENSG00000134909		0.507	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	104	0.00	0	G	NM_014715		128839196	128839196	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	missense	66	15.19	12	SNP	0.761	C
ARHGAP4	393	genome.wustl.edu	37	X	153176593	153176593	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:153176593G>C	ENST00000350060.5	-	13	1634	c.1593C>G	c.(1591-1593)atC>atG	p.I531M	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.I510M|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.I508M|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.I571M|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.I353M|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	531	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATTGAGGTTGATGAAGCGAA	0.622											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													83.0	57.0	66.0					X																	153176593		2169	4245	6414	-	-	-	SO:0001583	missense	0			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1593C>G	X.37:g.153176593G>C	ENSP00000203786:p.Ile531Met	Somatic	1753	WXS	Illumina GAIIx	Phase_IV	Q14144|Q86UY3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S46*	ENST00000350060.5	37	c.137	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.37|15.37	2.812084|2.812084	0.50527|0.50527	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.27557|.	1.66;1.66;1.66;1.66;1.66|.	5.21|5.21	-2.56|-2.56	0.06268|0.06268	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.45126|.	D|.	0.000396|.	T|.	0.80449|.	0.4625|.	M|M	0.91717|0.91717	3.235|3.235	0.47009|0.47009	D|D	0.999284|0.999284	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.82329|.	-0.0511|.	10|.	0.87932|.	D|.	0|.	.|.	12.4686|12.4686	0.55773|0.55773	0.43:0.0:0.57:0.0|0.43:0.0:0.57:0.0	.|.	571;531|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	M|X	353;571;531;510;508|46	ENSP00000377322:I353M;ENSP00000359045:I571M;ENSP00000203786:I531M;ENSP00000359033:I510M;ENSP00000444169:I508M|.	ENSP00000203786:I531M|.	I|S	-|-	3|2	3|0	ARHGAP4|ARHGAP4	152829787|152829787	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.585000|0.585000	0.36419|0.36419	0.637000|0.637000	0.24659|0.24659	-0.476000|-0.476000	0.06842|0.06842	-0.412000|-0.412000	0.06146|0.06146	ATC|TCA	ARHGAP4	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089820		0.622	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	105	0.00	0	G	NM_001666		153176593	153176593	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442172	ensembl	human	novel	69_37n	nonsense	68	18.07	15	SNP	0.998	C
ARHGEF19	128272	genome.wustl.edu	37	1	16534659	16534659	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:16534659G>A	ENST00000270747.3	-	3	610	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	158					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTAGGAAGACAGCGTGGG	0.662																																						dbGAP											0													57.0	60.0	59.0					1																	16534659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.474C>T	1.37:g.16534659G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V158	ENST00000270747.3	37	c.474	CCDS170.1	1																																																																																			ARHGEF19	-	NULL	ENSG00000142632		0.662	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	59	0.00	0	G	NM_153213		16534659	16534659	-1	no_errors	ENST00000270747	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	0.917	A
ARHGEF10L	55160	genome.wustl.edu	37	1	17961022	17961022	+	Intron	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:17961022C>A	ENST00000361221.3	+	17	1889				ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000469726.1_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like							cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCTCCCTTTCCTTCTTGTCT	0.602																																						dbGAP											0													141.0	145.0	144.0					1																	17961022		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1731-21C>A	1.37:g.17961022C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	RNA	SNP	-	NULL	ENST00000361221.3	37	NULL	CCDS182.1	1																																																																																			ARHGEF10L	-	-	ENSG00000074964		0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	276	0.00	0	C	NM_018125		17961022	17961022	+1	no_errors	ENST00000482359	ensembl	human	known	69_37n	rna	168	21.86	47	SNP	0.004	A
ARL6	84100	genome.wustl.edu	37	3	97503846	97503846	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:97503846G>C	ENST00000463745.1	+	5	779	c.302G>C	c.(301-303)aGa>aCa	p.R101T	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.R101T|ARL6_ENST00000394206.1_Missense_Mutation_p.R101T	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	101					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		GATAGATTAAGAATGGTTGTG	0.328																																						dbGAP											0													167.0	167.0	167.0					3																	97503846		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.302G>C	3.37:g.97503846G>C	ENSP00000419619:p.Arg101Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA93|D3DN31	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.R101T	ENST00000463745.1	37	c.302	CCDS2928.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885302	0.91814	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.26	5.26	0.73747	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86234	0.5884	H	0.95224	3.64	0.80722	D	1	B	0.19706	0.038	B	0.26416	0.069	D	0.86135	0.1577	10	0.87932	D	0	.	18.8365	0.92165	0.0:0.0:1.0:0.0	.	101	Q9H0F7	ARL6_HUMAN	T	101	ENSP00000419619:R101T;ENSP00000418740:R101T;ENSP00000337722:R101T;ENSP00000377756:R101T	ENSP00000337722:R101T	R	+	2	0	ARL6	98986536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.325000	0.96381	2.602000	0.87976	0.557000	0.71058	AGA	ARL6	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000113966		0.328	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6	HGNC	protein_coding	OTTHUMT00000353756.1	445	0.00	0	G	NM_032146		97503846	97503846	+1	no_errors	ENST00000335979	ensembl	human	known	69_37n	missense	215	12.60	31	SNP	1.000	C
ARMC2	84071	genome.wustl.edu	37	6	109258196	109258196	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:109258196G>A	ENST00000392644.4	+	12	1758	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K	ARMC2_ENST00000368972.3_Silent_p.K365K	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	530										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AATACCAGAAGAAGCAGGTCA	0.363																																						dbGAP											0													72.0	65.0	67.0					6																	109258196		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1590G>A	6.37:g.109258196G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.K530	ENST00000392644.4	37	c.1590	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold	ENSG00000118690		0.363	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	243	0.00	0	G	NM_032131		109258196	109258196	+1	no_errors	ENST00000392644	ensembl	human	known	69_37n	silent	127	10.56	15	SNP	1.000	A
ARMC2	84071	genome.wustl.edu	37	6	109283314	109283314	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:109283314C>T	ENST00000392644.4	+	15	2304	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	ARMC2_ENST00000368972.3_Silent_p.F547F|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	712										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCTGCGATTTCATTGTGCAGA	0.413																																						dbGAP											0													80.0	69.0	73.0					6																	109283314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2136C>T	6.37:g.109283314C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.F712	ENST00000392644.4	37	c.2136	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000118690		0.413	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	194	0.00	0	C	NM_032131		109283314	109283314	+1	no_errors	ENST00000392644	ensembl	human	known	69_37n	silent	90	10.89	11	SNP	1.000	T
ARMC4	55130	genome.wustl.edu	37	10	28250537	28250537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:28250537G>C	ENST00000305242.5	-	10	1438	c.1346C>G	c.(1345-1347)tCa>tGa	p.S449*	ARMC4_ENST00000545014.1_De_novo_Start_OutOfFrame|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.S306*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.S141*|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	449					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						CCAATATTCTGATGGCAAATC	0.388																																						dbGAP											0													62.0	63.0	62.0					10																	28250537		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			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.1346C>G	10.37:g.28250537G>C	ENSP00000306410:p.Ser449*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.S449*	ENST00000305242.5	37	c.1346	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.086872	0.98055	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.7733	18.3066	0.90184	0.0:0.0:1.0:0.0	.	.	.	.	X	141;449;141;343;306	.	ENSP00000239715:S306X	S	-	2	0	ARMC4	28290543	1.000000	0.71417	0.497000	0.27552	0.988000	0.76386	8.485000	0.90448	2.677000	0.91161	0.650000	0.86243	TCA	ARMC4	-	superfamily_ARM-type_fold	ENSG00000169126		0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	175	0.00	0	G	NM_018076		28250537	28250537	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	nonsense	76	11.63	10	SNP	0.981	C
ARSK	153642	genome.wustl.edu	37	5	94918723	94918723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:94918723G>T	ENST00000380009.4	+	4	725	c.520G>T	c.(520-522)Gaa>Taa	p.E174*		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	174					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGAGTGATGGAAAGGGATTG	0.398																																						dbGAP											0													147.0	141.0	143.0					5																	94918723		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.520G>T	5.37:g.94918723G>T	ENSP00000369346:p.Glu174*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Nonsense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E174*	ENST00000380009.4	37	c.520	CCDS4073.1	5	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167558	0.57476	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	.	.	.	6.02	1.13	0.20643	.	0.828438	0.11539	N	0.553909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-3.6769	6.4547	0.21924	0.3048:0.1745:0.5208:0.0	.	.	.	.	X	174	.	ENSP00000369346:E174X	E	+	1	0	ARSK	94944479	0.254000	0.23992	0.206000	0.23566	0.521000	0.34408	0.536000	0.23129	-0.072000	0.12864	0.650000	0.86243	GAA	ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000164291		0.398	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	194	0.00	0	G	NM_198150		94918723	94918723	+1	no_errors	ENST00000380009	ensembl	human	known	69_37n	nonsense	94	24.19	30	SNP	0.124	T
ASH2L	9070	genome.wustl.edu	37	8	37996376	37996376	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:37996376G>A	ENST00000343823.6	+	15	2071	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	ASH2L_ENST00000545394.1_Missense_Mutation_p.D449N|ASH2L_ENST00000521652.1_Missense_Mutation_p.D461N|ASH2L_ENST00000250635.7_Missense_Mutation_p.D461N|ASH2L_ENST00000428278.2_Missense_Mutation_p.D494N	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	588					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TCCTCCGAAGGATCTCACTTA	0.443																																						dbGAP											0													187.0	167.0	173.0					8																	37996376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1762G>A	8.37:g.37996376G>A	ENSP00000340896:p.Asp588Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.D588N	ENST00000343823.6	37	c.1762	CCDS6101.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.103352|4.103352	0.76983|0.76983	.|.	.|.	ENSG00000129691|ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652|ENST00000524247	T;T;T;T;T|.	0.78816|.	-0.24;-1.21;-1.21;-1.21;-1.21|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.040400|.	0.85682|.	D|.	0.000000|.	T|T	0.71247|0.71247	0.3317|0.3317	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;P|.	0.34934|.	0.287;0.476|.	B;B|.	0.37198|.	0.188;0.243|.	T|T	0.66135|0.66135	-0.5999|-0.5999	10|5	0.49607|.	T|.	0.09|.	.|.	19.9859|19.9859	0.97351|0.97351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	461;588|.	Q9UBL3-2;Q9UBL3|.	.;ASH2L_HUMAN|.	N|E	588;461;449;494;461|183	ENSP00000340896:D588N;ENSP00000250635:D461N;ENSP00000443606:D449N;ENSP00000395310:D494N;ENSP00000430259:D461N|.	ENSP00000250635:D461N|.	D|G	+|+	1|2	0|0	ASH2L|ASH2L	38115533|38115533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.715000|7.715000	0.84713|0.84713	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAT|GGA	ASH2L	-	NULL	ENSG00000129691		0.443	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	303	0.00	0	G	NM_004674		37996376	37996376	+1	no_errors	ENST00000343823	ensembl	human	known	69_37n	missense	221	10.53	26	SNP	1.000	A
ASMTL	8623	genome.wustl.edu	37	X	1551179	1551179	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:1551179G>A	ENST00000381317.3	-	6	524	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.V88V|ASMTL_ENST00000381333.4_Silent_p.V148V|ASMTL_ENST00000534940.1_Silent_p.V106V	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	164	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCGCTGTGGACGTATTCCC	0.632																																						dbGAP											0													118.0	120.0	119.0					X																	1551179		1960	4131	6091	-	-	-	SO:0001819	synonymous_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.492C>T	X.37:g.1551179G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.V164	ENST00000381317.3	37	c.492	CCDS43917.1	X																																																																																			ASMTL	-	pfam_Maf,tigrfam_Maf	ENSG00000169093		0.632	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	196	0.00	0	G	NM_004192		1551179	1551179	-1	no_errors	ENST00000381317	ensembl	human	known	69_37n	silent	137	16.97	28	SNP	0.999	A
ASPG	374569	genome.wustl.edu	37	14	104575607	104575607	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:104575607C>A	ENST00000551177.1	+	13	1567	c.1475C>A	c.(1474-1476)tCc>tAc	p.S492Y	ASPG_ENST00000455920.2_Missense_Mutation_p.S492Y|ASPG_ENST00000546892.2_Missense_Mutation_p.S492Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	492					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCGGGGCCTCCCTGTCCACC	0.652																																						dbGAP											0													34.0	43.0	40.0					14																	104575607		2121	4240	6361	-	-	-	SO:0001583	missense	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1475C>A	14.37:g.104575607C>A	ENSP00000450040:p.Ser492Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGQ2|Q8IV80	Missense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI	p.S492Y	ENST00000551177.1	37	c.1475	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.051023	0.00394	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920;ENST00000550583	T;T;T;T	0.55052	0.54;1.31;0.54;0.54	3.44	0.365	0.16131	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.39963	0.1098	L	0.48642	1.525	0.21740	N	0.999567	B;B;B	0.31153	0.31;0.122;0.1	B;B;B	0.29862	0.108;0.084;0.05	T	0.37103	-0.9720	9	0.62326	D	0.03	-3.9071	3.5182	0.07732	0.2664:0.2316:0.5019:0.0	.	492;492;492	G3V1Y8;Q86U10;Q86U10-3	.;LPP60_HUMAN;.	Y	492;520;492;492;53	ENSP00000450040:S492Y;ENSP00000448911:S492Y;ENSP00000389003:S492Y;ENSP00000446856:S53Y	ENSP00000299234:S520Y	S	+	2	0	ASPG	103645360	0.008000	0.16893	0.933000	0.37362	0.259000	0.26198	0.849000	0.27723	0.209000	0.20645	-0.356000	0.07607	TCC	ASPG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000166183		0.652	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	107	0.00	0	C	NM_001080464		104575607	104575607	+1	no_errors	ENST00000455920	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.992	A
ASTN1	460	genome.wustl.edu	37	1	176863943	176863943	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:176863943C>T	ENST00000367654.3	-	17	2930	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E899K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E899K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E899K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	907					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCGCTCCTCAGACTCATCT	0.527																																						dbGAP											0													100.0	103.0	102.0					1																	176863943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2719G>A	1.37:g.176863943C>T	ENSP00000356626:p.Glu907Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.E907K	ENST00000367654.3	37	c.2719		1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583830	0.65992	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14516	2.5;2.92;2.92;2.51	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.40543	1.245	0.80722	D	1	D;D	0.56035	0.974;0.974	D;D	0.70487	0.969;0.969	T	0.00571	-1.1665	10	0.46703	T	0.11	-30.9703	18.8334	0.92150	0.0:1.0:0.0:0.0	.	899;899	O14525-2;B1AJS1	.;.	K	899;899;907;899;899	ENSP00000356629:E899K;ENSP00000354536:E899K;ENSP00000356626:E907K;ENSP00000395041:E899K	ENSP00000354536:E899K	E	-	1	0	ASTN1	175130566	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.060000	0.76692	2.640000	0.89533	0.655000	0.94253	GAG	ASTN1	-	smart_MACPF	ENSG00000152092		0.527	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		87	0.00	0	C	NM_004319		176863943	176863943	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	T
ASTN2	23245	genome.wustl.edu	37	9	119626003	119626003	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:119626003C>T	ENST00000313400.4	-	11	1999	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	ASTN2_ENST00000373996.3_Silent_p.A629A|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.A582A			O75129	ASTN2_HUMAN	astrotactin 2	633					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGACAGCATCGCTTCTTCCC	0.438																																						dbGAP											0													101.0	80.0	87.0					9																	119626003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1899G>A	9.37:g.119626003C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.A633	ENST00000313400.4	37	c.1899		9																																																																																			ASTN2	-	NULL	ENSG00000148219		0.438	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		143	0.00	0	C	NM_014010		119626003	119626003	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	silent	73	27.00	27	SNP	0.306	T
ATF7IP	55729	genome.wustl.edu	37	12	14610211	14610211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:14610211C>T	ENST00000540793.1	+	7	2295	c.2140C>T	c.(2140-2142)Caa>Taa	p.Q714*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.Q713*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.Q722*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.Q713*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.Q714*|ATF7IP_ENST00000541654.1_Intron			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	714	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACCATCCTTTCAAACTCCTGT	0.353																																						dbGAP											0													108.0	105.0	106.0					12																	14610211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2140C>T	12.37:g.14610211C>T	ENSP00000444589:p.Gln714*	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q714*	ENST00000540793.1	37	c.2140	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.338618	0.98767	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.75	5.75	0.90469	.	0.168163	0.42964	D	0.000636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.5568	20.312	0.98644	0.0:1.0:0.0:0.0	.	.	.	.	X	714;713;713;722;714	.	ENSP00000261168:Q714X	Q	+	1	0	ATF7IP	14501478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.064000	0.64338	2.866000	0.98385	0.650000	0.86243	CAA	ATF7IP	-	NULL	ENSG00000171681		0.353	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	240	0.00	0	C	NM_018179		14610211	14610211	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	nonsense	93	21.85	26	SNP	1.000	T
ATG9B	285973	genome.wustl.edu	37	7	150714279	150714279	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:150714279G>T	ENST00000377974.2	-	9	2208	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L	ATG9B_ENST00000444312.1_Missense_Mutation_p.F197L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.F711L			Q674R7	ATG9B_HUMAN	autophagy related 9B	711					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCCAGGGAGAACCGCATCA	0.617																																						dbGAP											0													28.0	34.0	32.0					7																	150714279		2010	4164	6174	-	-	-	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2133C>A	7.37:g.150714279G>T	ENSP00000475005:p.Phe711Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000377974.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755325	0.49362	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	4.97	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	.	.	.	.	.	.	D	0.76494	0.999	D	0.69307	0.963	T	0.79142	-0.1925	7	0.87932	D	0	-21.6664	8.0469	0.30555	0.1892:0.0:0.8108:0.0	.	711	Q674R7	ATG9B_HUMAN	L	711;197;711	.	ENSP00000444232:F711L	F	-	3	2	AC010973.1	150345212	0.998000	0.40836	1.000000	0.80357	0.852000	0.48524	0.515000	0.22801	1.042000	0.40150	0.491000	0.48974	TTC	ATG9B	-	-	ENSG00000181652		0.617	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		25	0.00	0	G	NM_173681		150714279	150714279	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	23	20.69	6	SNP	1.000	T
ATP13A5	344905	genome.wustl.edu	37	3	193081941	193081941	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:193081941G>A	ENST00000342358.4	-	2	309	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	64						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGGGGCATGGGATGCAGTTGG	0.527																																						dbGAP											0													173.0	163.0	166.0					3																	193081941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.192C>T	3.37:g.193081941G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWS4|Q6ZWL0	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.I64	ENST00000342358.4	37	c.192	CCDS33914.1	3																																																																																			ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000187527		0.527	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	75	0.00	0	G	NM_198505		193081941	193081941	-1	no_errors	ENST00000342358	ensembl	human	known	69_37n	silent	43	37.68	26	SNP	0.009	A
ATP2B1	490	genome.wustl.edu	37	12	90010690	90010690	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:90010690G>C	ENST00000428670.3	-	12	2412	c.1956C>G	c.(1954-1956)ttC>ttG	p.F652L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.F652L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.F652L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.F395L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.F652L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	652					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAAAATCTCTGAATGCAAGAC	0.438																																						dbGAP											0													229.0	216.0	220.0					12																	90010690		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1956C>G	12.37:g.90010690G>C	ENSP00000392043:p.Phe652Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.F652L	ENST00000428670.3	37	c.1956	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357167	0.61293	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.82	3.99	0.46301	.	0.106399	0.64402	D	0.000002	D	0.92851	0.7726	L	0.33710	1.025	0.44515	D	0.99746	B;B;B	0.22683	0.073;0.05;0.005	B;B;B	0.25884	0.053;0.064;0.027	D	0.89244	0.3586	10	0.87932	D	0	-14.1071	11.3905	0.49811	0.2008:0.0:0.7992:0.0	.	652;652;652	P20020-3;P20020-2;P20020-6	.;.;.	L	652;652;652;652;395	ENSP00000261173:F652L;ENSP00000343599:F652L;ENSP00000352054:F652L;ENSP00000392043:F652L;ENSP00000376869:F395L	ENSP00000261173:F652L	F	-	3	2	ATP2B1	88534821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.167000	0.58209	0.810000	0.34279	0.650000	0.86243	TTC	ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.438	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	380	0.00	0	G	NM_001682		90010690	90010690	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	242	11.31	31	SNP	1.000	C
ATP2B2	491	genome.wustl.edu	37	3	10392112	10392112	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:10392112G>C	ENST00000352432.4	-	14	2355	c.2286C>G	c.(2284-2286)ttC>ttG	p.F762L	ATP2B2_ENST00000397077.1_Missense_Mutation_p.F717L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.F717L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.F762L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.F748L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	762					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCTCCTGTTGAACTCCTTGC	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													124.0	98.0	107.0					3																	10392112		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2286C>G	3.37:g.10392112G>C	ENSP00000324172:p.Phe762Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.F762L	ENST00000352432.4	37	c.2286	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005834	0.74932	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95	4.39	3.51	0.40186	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.982;0.997;0.999	D;D;D	0.79784	0.961;0.979;0.993	D	0.95375	0.8468	10	0.87932	D	0	-25.1196	8.0167	0.30385	0.3183:0.0:0.6817:0.0	.	697;729;762	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	762;717;717;762;748;697;618;762	ENSP00000324172:F762L;ENSP00000373311:F717L;ENSP00000380267:F717L;ENSP00000353414:F762L;ENSP00000344677:F748L;ENSP00000414854:F618L	ENSP00000342954:F762L	F	-	3	2	ATP2B2	10367112	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.468000	0.45102	0.949000	0.37715	0.491000	0.48974	TTC	ATP2B2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000157087		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	128	0.00	0	G	NM_001683		10392112	10392112	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	C
ATP2B4	493	genome.wustl.edu	37	1	203652420	203652420	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:203652420G>A	ENST00000357681.5	+	2	1210	c.87G>A	c.(85-87)ctG>ctA	p.L29L	ATP2B4_ENST00000391954.2_Silent_p.L29L|ATP2B4_ENST00000367218.3_Silent_p.L29L|ATP2B4_ENST00000367219.3_Silent_p.L29L|ATP2B4_ENST00000341360.2_Silent_p.L29L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	29					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.L29L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAATGGAACTGAGGAAGCTCA	0.522																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											172.0	160.0	164.0					1																	203652420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.87G>A	1.37:g.203652420G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L29	ENST00000357681.5	37	c.87	CCDS1440.1	1																																																																																			ATP2B4	-	NULL	ENSG00000058668		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	98	0.00	0	G	NM_001001396		203652420	203652420	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	silent	66	10.81	8	SNP	0.987	A
AXL	558	genome.wustl.edu	37	19	41762429	41762429	+	Nonsense_Mutation	SNP	C	C	A	rs201240568		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:41762429C>A	ENST00000301178.4	+	18	2299	c.2109C>A	c.(2107-2109)taC>taA	p.Y703*	AXL_ENST00000593513.1_Nonsense_Mutation_p.Y435*|AXL_ENST00000359092.3_Nonsense_Mutation_p.Y694*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGACTACTACCGCCAGGGAC	0.537																																						dbGAP											0													223.0	179.0	194.0					19																	41762429		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2109C>A	19.37:g.41762429C>A	ENSP00000301178:p.Tyr703*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5L2|Q9UD27	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y703*	ENST00000301178.4	37	c.2109	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.665501	0.98422	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	.	.	.	4.6	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3076	6.4839	0.22077	0.1481:0.6988:0.0:0.1531	.	.	.	.	X	703;694	.	ENSP00000301178:Y703X	Y	+	3	2	AXL	46454269	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.596000	0.36718	0.260000	0.21731	-0.293000	0.09583	TAC	AXL	-	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	ENSG00000167601		0.537	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	160	0.62	1	C			41762429	41762429	+1	no_errors	ENST00000301178	ensembl	human	known	69_37n	nonsense	104	16.13	20	SNP	1.000	A
B4GALNT2	124872	genome.wustl.edu	37	17	47219488	47219488	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:47219488G>A	ENST00000300404.2	+	3	546	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A103T|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A77T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGACCTCCCAGCGGTGAAAGC	0.507																																					GBM(124;244 1635 8663 18097 33175)	dbGAP											0													113.0	106.0	108.0					17																	47219488		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.487G>A	17.37:g.47219488G>A	ENSP00000300404:p.Ala163Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A163T	ENST00000300404.2	37	c.487	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046318	0.75846	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.44482	0.92;0.92;0.92	5.7	4.73	0.59995	.	0.162995	0.39834	N	0.001256	T	0.35856	0.0946	L	0.34521	1.04	0.21553	N	0.999642	P;P	0.52463	0.873;0.953	B;P	0.47744	0.382;0.556	T	0.13415	-1.0510	10	0.22109	T	0.4	-13.2398	10.3856	0.44138	0.0899:0.0:0.9101:0.0	.	103;163	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	T	77;103;163	ENSP00000425510:A77T;ENSP00000377022:A103T;ENSP00000300404:A163T	ENSP00000300404:A163T	A	+	1	0	B4GALNT2	44574487	0.054000	0.20591	0.823000	0.32752	0.287000	0.27160	2.876000	0.48498	1.398000	0.46701	0.655000	0.94253	GCG	B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.507	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	138	0.00	0	G	NM_153446		47219488	47219488	+1	no_errors	ENST00000300404	ensembl	human	known	69_37n	missense	102	13.56	16	SNP	0.446	A
BAAT	570	genome.wustl.edu	37	9	104133443	104133443	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:104133443G>A	ENST00000395051.3	-	1	314	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	BAAT_ENST00000259407.2_Silent_p.L82L			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	82					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCAGGTTTCAGAGACCAGAAG	0.428																																						dbGAP											0													100.0	105.0	103.0					9																	104133443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.244C>T	9.37:g.104133443G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Silent	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L82	ENST00000395051.3	37	c.244	CCDS6752.1	9																																																																																			BAAT	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.428	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	123	0.00	0	G			104133443	104133443	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	silent	62	20.51	16	SNP	0.795	A
BAZ1A	11177	genome.wustl.edu	37	14	35249434	35249434	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:35249434C>T	ENST00000382422.2	-	16	2521	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	BAZ1A_ENST00000358716.4_Missense_Mutation_p.E700K|BAZ1A_ENST00000360310.1_Missense_Mutation_p.E732K			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	732	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCTTCATCTTCAGTGACCATA	0.363																																						dbGAP											0													221.0	195.0	204.0					14																	35249434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2194G>A	14.37:g.35249434C>T	ENSP00000371859:p.Glu732Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E732K	ENST00000382422.2	37	c.2194	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455733	0.84209	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.73681	-0.76;-0.77;-0.77	5.28	5.28	0.74379	.	0.459978	0.22971	N	0.053426	T	0.68274	0.2983	L	0.29908	0.895	0.52501	D	0.999954	D;B	0.56035	0.974;0.184	P;B	0.44946	0.465;0.034	T	0.65915	-0.6052	10	0.23891	T	0.37	.	19.2674	0.93993	0.0:1.0:0.0:0.0	.	700;732	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	K	700;732;732;384	ENSP00000351555:E700K;ENSP00000371859:E732K;ENSP00000353458:E732K	ENSP00000351555:E700K	E	-	1	0	BAZ1A	34319185	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	4.043000	0.57354	2.619000	0.88677	0.591000	0.81541	GAA	BAZ1A	-	NULL	ENSG00000198604		0.363	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	422	0.24	1	C			35249434	35249434	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	missense	263	11.74	35	SNP	1.000	T
BAZ1A	11177	genome.wustl.edu	37	14	35343775	35343775	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:35343775C>T	ENST00000382422.2	-	1	363	c.36G>A	c.(34-36)caG>caA	p.Q12Q	RP11-73E17.2_ENST00000557373.1_RNA|BAZ1A_ENST00000358716.4_Silent_p.Q12Q|BAZ1A_ENST00000360310.1_Silent_p.Q12Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	12	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CGGGCGGCTTCTGTCTCACAA	0.667																																						dbGAP											0													35.0	45.0	42.0					14																	35343775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.36G>A	14.37:g.35343775C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q12	ENST00000382422.2	37	c.36	CCDS9651.1	14																																																																																			BAZ1A	-	NULL	ENSG00000198604		0.667	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	37	0.00	0	C			35343775	35343775	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	T
BCL2L13	23786	genome.wustl.edu	37	22	18210154	18210154	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:18210154G>A	ENST00000317582.5	+	7	1659	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E276K|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E314K|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E276K|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GCCGCCGTCTGAGGGCAAGTC	0.587																																						dbGAP											0													64.0	67.0	66.0					22																	18210154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.1312G>A	22.37:g.18210154G>A	ENSP00000318883:p.Glu438Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.E438K	ENST00000317582.5	37	c.1312	CCDS13746.1	22	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019562	0.19355	.	.	ENSG00000099968	ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612	T;T;T;T	0.44881	2.23;0.92;0.91;0.92	0.493	0.493	0.16878	.	2.082450	0.05310	U	0.524613	T	0.28665	0.0710	N	0.14661	0.345	0.09310	N	1	B;P	0.34587	0.37;0.458	B;B	0.39152	0.036;0.292	T	0.36089	-0.9762	10	0.59425	D	0.04	.	4.2271	0.10585	0.0:0.4445:0.5554:1.0E-4	.	314;438	B7Z238;Q9BXK5	.;B2L13_HUMAN	K	438;276;314;276	ENSP00000318883:E438K;ENSP00000437667:E276K;ENSP00000441344:E314K;ENSP00000338932:E276K	ENSP00000318883:E438K	E	+	1	0	BCL2L13	16590154	0.009000	0.17119	0.011000	0.14972	0.011000	0.07611	-0.117000	0.10708	0.508000	0.28173	0.511000	0.50034	GAG	BCL2L13	-	NULL	ENSG00000099968		0.587	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	81	0.00	0	G	NM_015367		18210154	18210154	+1	no_errors	ENST00000317582	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.003	A
BCR	613	genome.wustl.edu	37	22	23655135	23655135	+	Silent	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:23655135G>T	ENST00000305877.8	+	20	4135	c.3384G>T	c.(3382-3384)ctG>ctT	p.L1128L	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.L1084L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1128	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGGCACGCTGAAGCTGTACT	0.582			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	dbGAP		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													22.0	22.0	22.0					22																	23655135		2077	3905	5982	-	-	-	SO:0001819	synonymous_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3384G>T	22.37:g.23655135G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.L1128	ENST00000305877.8	37	c.3384	CCDS13806.1	22																																																																																			BCR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186716		0.582	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	68	0.00	0	G	NM_004327		23655135	23655135	+1	no_errors	ENST00000305877	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	0.996	T
BHLHB9	80823	genome.wustl.edu	37	X	102004803	102004803	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:102004803G>A	ENST00000372735.1	+	4	1465	c.880G>A	c.(880-882)Gag>Aag	p.E294K	BHLHB9_ENST00000457056.1_Missense_Mutation_p.E294K|BHLHB9_ENST00000448867.1_Missense_Mutation_p.E294K|BHLHB9_ENST00000361229.4_Missense_Mutation_p.E294K|BHLHB9_ENST00000447531.1_Missense_Mutation_p.E294K			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	294					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACCATAGATGAGATTAGACG	0.458																																						dbGAP											0													88.0	79.0	83.0					X																	102004803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.880G>A	X.37:g.102004803G>A	ENSP00000361820:p.Glu294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0G2	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E294K	ENST00000372735.1	37	c.880	CCDS14502.1	X	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780610	0.31502	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	4.69	2.69	0.31865	.	0.308683	0.23356	N	0.049073	T	0.17323	0.0416	L	0.60455	1.87	0.27609	N	0.948712	B	0.24043	0.096	B	0.18263	0.021	T	0.15464	-1.0436	9	.	.	.	-23.9334	5.3888	0.16231	0.1202:0.1933:0.6865:0.0	.	294	Q6PI77	BHLH9_HUMAN	K	294	ENSP00000403226:E294K;ENSP00000354675:E294K;ENSP00000405893:E294K;ENSP00000391722:E294K;ENSP00000361820:E294K	.	E	+	1	0	BHLHB9	101891459	1.000000	0.71417	0.961000	0.40146	0.916000	0.54674	1.337000	0.33862	0.546000	0.28920	0.600000	0.82982	GAG	BHLHB9	-	NULL	ENSG00000198908		0.458	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	127	0.00	0	G	NM_030639		102004803	102004803	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	missense	55	11.29	7	SNP	0.960	A
BPTF	2186	genome.wustl.edu	37	17	65871671	65871671	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:65871671G>C	ENST00000321892.4	+	5	1925		c.e5-1		BPTF_ENST00000424123.3_Splice_Site|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000335221.5_Splice_Site			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor						anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTGCTGTAGAGCCAACAGA	0.398																																						dbGAP											0													86.0	84.0	85.0					17																	65871671		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1865-1G>C	17.37:g.65871671G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Splice_Site	SNP	-	e5-1	ENST00000321892.4	37	c.1865-1		17	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491996	0.64074	.	.	ENSG00000171634	ENST00000544491;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8761	0.88825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPTF	63302133	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.338000	0.72963	2.729000	0.93468	0.467000	0.42956	.	BPTF	-	-	ENSG00000171634		0.398	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		76	0.00	0	G	NM_182641, NM_004459	Intron	65871671	65871671	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	splice_site	45	10.00	5	SNP	1.000	C
BPTF	2186	genome.wustl.edu	37	17	65908868	65908868	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:65908868C>G	ENST00000321892.4	+	13	5307	c.5246C>G	c.(5245-5247)tCc>tGc	p.S1749C	BPTF_ENST00000424123.3_Missense_Mutation_p.S1610C|BPTF_ENST00000306378.6_Missense_Mutation_p.S1623C|BPTF_ENST00000335221.5_Missense_Mutation_p.S1749C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1749	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGCAAAATCCACTGTCACA	0.473																																						dbGAP											0													71.0	65.0	67.0					17																	65908868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5246C>G	17.37:g.65908868C>G	ENSP00000315454:p.Ser1749Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1749C	ENST00000321892.4	37	c.5246		17	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691830	0.30052	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.70399	-0.48;-0.48;-0.46	5.47	5.47	0.80525	.	.	.	.	.	T	0.79197	0.4405	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.80826	-0.1209	9	0.87932	D	0	-7.231	19.6865	0.95981	0.0:1.0:0.0:0.0	.	1623;1749	Q12830-2;Q12830-4	.;.	C	1623;1749;1749	ENSP00000307208:S1623C;ENSP00000334351:S1749C;ENSP00000315454:S1749C	ENSP00000307208:S1623C	S	+	2	0	BPTF	63339330	1.000000	0.71417	0.998000	0.56505	0.454000	0.32378	7.562000	0.82300	2.728000	0.93425	0.650000	0.86243	TCC	BPTF	-	NULL	ENSG00000171634		0.473	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		85	0.00	0	C	NM_182641, NM_004459		65908868	65908868	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	72	10.00	8	SNP	1.000	G
BRE	9577	genome.wustl.edu	37	2	28268663	28268663	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:28268663C>G	ENST00000342045.2	+	7	708	c.567C>G	c.(565-567)ctC>ctG	p.L189L	BRE_ENST00000361704.2_Silent_p.L189L|BRE_ENST00000379632.2_Silent_p.L189L|BRE_ENST00000344773.2_Silent_p.L189L|BRE_ENST00000379624.1_Silent_p.L189L	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CATACCTTCTCAAGGTAAAAA	0.308																																						dbGAP											0													33.0	34.0	33.0					2																	28268663		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.567C>G	2.37:g.28268663C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Brain/reproduct-express_prot	p.L189	ENST00000342045.2	37	c.567	CCDS1763.1	2																																																																																			BRE	-	pfam_Brain/reproduct-express_prot	ENSG00000158019		0.308	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	141	0.00	0	C			28268663	28268663	+1	no_errors	ENST00000344773	ensembl	human	known	69_37n	silent	72	14.29	12	SNP	1.000	G
BTBD7	55727	genome.wustl.edu	37	14	93709172	93709172	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:93709172G>C	ENST00000334746.5	-	11	3153	c.2846C>G	c.(2845-2847)tCa>tGa	p.S949*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.S598*|BTBD7_ENST00000393170.2_Nonsense_Mutation_p.S523*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	949					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGCAGCATTTGAGAAGTCATA	0.468																																						dbGAP											0													180.0	169.0	173.0					14																	93709172		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2846C>G	14.37:g.93709172G>C	ENSP00000335615:p.Ser949*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.S949*	ENST00000334746.5	37	c.2846	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.095414	0.97276	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	.	.	.	5.9	5.9	0.94986	.	0.057475	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	.	.	.	X	949;598;564;523	.	ENSP00000335615:S949X	S	-	2	0	BTBD7	92778925	1.000000	0.71417	0.962000	0.40283	0.935000	0.57460	8.856000	0.92245	2.804000	0.96469	0.655000	0.94253	TCA	BTBD7	-	NULL	ENSG00000011114		0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	478	0.00	0	G	NM_001002860		93709172	93709172	-1	no_errors	ENST00000334746	ensembl	human	known	69_37n	nonsense	270	11.48	35	SNP	1.000	C
PROSER2	254427	genome.wustl.edu	37	10	11908538	11908538	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:11908538G>A	ENST00000277570.5	+	3	301	c.147G>A	c.(145-147)gaG>gaA	p.E49E	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	49																	AGGATGATGAGAGCCTGAAGT	0.473																																						dbGAP											0													159.0	153.0	155.0					10																	11908538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.147G>A	10.37:g.11908538G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	NULL	p.E49	ENST00000277570.5	37	c.147	CCDS7085.1	10																																																																																			C10orf47	-	NULL	ENSG00000148426		0.473	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf47	HGNC	protein_coding	OTTHUMT00000090189.2	119	0.00	0	G	NM_153256		11908538	11908538	+1	no_errors	ENST00000277570	ensembl	human	known	69_37n	silent	60	14.29	10	SNP	1.000	A
C11orf94	143678	genome.wustl.edu	37	11	45928734	45928734	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:45928734G>A	ENST00000449465.1	-	1	99	c.63C>T	c.(61-63)ctC>ctT	p.L21L	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	21						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CTGCCAGGATGAGGTGGAGGA	0.672																																						dbGAP											0													21.0	34.0	29.0					11																	45928734		2007	4116	6123	-	-	-	SO:0001819	synonymous_variant	0				CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.63C>T	11.37:g.45928734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L21	ENST00000449465.1	37	c.63	CCDS44577.1	11																																																																																			C11orf94	-	NULL	ENSG00000234776		0.672	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf94	HGNC	protein_coding	OTTHUMT00000392395.1	27	0.00	0	G	NM_001080446		45928734	45928734	-1	no_errors	ENST00000449465	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	0.000	A
NRDE2	55051	genome.wustl.edu	37	14	90745473	90745473	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:90745473G>C	ENST00000354366.3	-	13	3534	c.3302C>G	c.(3301-3303)tCc>tGc	p.S1101C	NRDE2_ENST00000357904.3_Missense_Mutation_p.S870C	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	1101																	ATTTCCTAAGGAAACCTGAGG	0.463																																						dbGAP											0													163.0	157.0	159.0					14																	90745473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.3302C>G	14.37:g.90745473G>C	ENSP00000346335:p.Ser1101Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.S1101C	ENST00000354366.3	37	c.3302	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143264	0.57044	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.70749	-0.51;-0.51	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.67953	2.075	0.80722	D	1	B;B	0.31519	0.327;0.327	B;B	0.29598	0.104;0.096	T	0.71724	-0.4506	10	0.54805	T	0.06	-23.4294	19.6977	0.96034	0.0:0.0:1.0:0.0	.	870;1101	E9PBK4;Q9H7Z3	.;CN102_HUMAN	C	1101;870	ENSP00000346335:S1101C;ENSP00000350579:S870C	ENSP00000346335:S1101C	S	-	2	0	C14orf102	89815226	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.797000	0.91882	2.720000	0.93068	0.557000	0.71058	TCC	C14orf102	-	NULL	ENSG00000119720		0.463	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	HGNC	protein_coding	OTTHUMT00000411264.1	301	0.00	0	G	NM_017970		90745473	90745473	-1	no_errors	ENST00000354366	ensembl	human	known	69_37n	missense	150	11.70	20	SNP	1.000	C
CCDC175	729665	genome.wustl.edu	37	14	60035077	60035077	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:60035077C>A	ENST00000537690.2	-	4	432	c.377G>T	c.(376-378)aGa>aTa	p.R126I	CCDC175_ENST00000281581.4_Missense_Mutation_p.R126I	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	126																	AAGATTTAATCTGCGAGCGTC	0.323																																						dbGAP											0													114.0	89.0	97.0					14																	60035077		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.377G>T	14.37:g.60035077C>A	ENSP00000453940:p.Arg126Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.R126I	ENST00000537690.2	37	c.377	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730616	0.69074	.	.	ENSG00000151838	ENST00000555041	.	.	.	5.1	-5.59	0.02505	.	0.998202	0.08115	N	0.995579	T	0.47838	0.1467	L	0.54323	1.7	0.09310	N	1	.	.	.	.	.	.	T	0.52704	-0.8540	6	.	.	.	-5.9801	14.0752	0.64887	0.0:0.2449:0.0:0.7551	.	.	.	.	I	126	.	.	R	-	2	0	C14orf38	59104830	0.023000	0.18921	0.000000	0.03702	0.613000	0.37349	-0.254000	0.08781	-1.110000	0.02992	-0.150000	0.13652	AGA	C14orf38	-	NULL	ENSG00000151838		0.323	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf38	HGNC	protein_coding	OTTHUMT00000471273.1	223	0.00	0	C	NM_001164399		60035077	60035077	-1	no_errors	ENST00000281581	ensembl	human	known	69_37n	missense	132	13.73	21	SNP	0.000	A
NRDE2	55051	genome.wustl.edu	37	14	90764656	90764656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:90764656C>T	ENST00000354366.3	-	8	1846	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	NRDE2_ENST00000357904.3_Nonsense_Mutation_p.W307*	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	538																	TCCACGCCTTCCAGCCTCGGG	0.532																																						dbGAP											0													74.0	70.0	71.0					14																	90764656		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1614G>A	14.37:g.90764656C>T	ENSP00000346335:p.Trp538*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Nonsense_Mutation	SNP	pfam_NRDE-2	p.W538*	ENST00000354366.3	37	c.1614	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	40	8.233484	0.98719	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9577	19.5606	0.95371	0.0:1.0:0.0:0.0	.	.	.	.	X	538;307;117	.	ENSP00000346335:W538X	W	-	3	0	C14orf102	89834409	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	7.289000	0.78701	2.624000	0.88883	0.455000	0.32223	TGG	C14orf102	-	pfam_NRDE-2	ENSG00000119720		0.532	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	HGNC	protein_coding	OTTHUMT00000411264.1	75	0.00	0	C	NM_017970		90764656	90764656	-1	no_errors	ENST00000354366	ensembl	human	known	69_37n	nonsense	48	12.73	7	SNP	1.000	T
C15orf56	644809	genome.wustl.edu	37	15	40544625	40544625	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:40544625G>C	ENST00000319503.3	-	2	368	c.347C>G	c.(346-348)tCt>tGt	p.S116C	PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	116										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		TGGAGAGAAAGAGTTGAGCAG	0.731																																						dbGAP											0													18.0	22.0	21.0					15																	40544625		2198	4295	6493	-	-	-	SO:0001583	missense	0				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.347C>G	15.37:g.40544625G>C	ENSP00000315794:p.Ser116Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S116C	ENST00000319503.3	37	c.347	CCDS32197.1	15	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858506	0.32791	.	.	ENSG00000176753	ENST00000319503	T	0.30182	1.54	4.42	0.0571	0.14322	.	.	.	.	.	T	0.25568	0.0622	N	0.08118	0	0.09310	N	0.999999	D	0.67145	0.996	P	0.61874	0.895	T	0.11717	-1.0576	9	0.87932	D	0	.	3.9568	0.09393	0.3085:0.1781:0.5135:0.0	.	116	Q8N910	CO056_HUMAN	C	116	ENSP00000315794:S116C	ENSP00000315794:S116C	S	-	2	0	C15orf56	38331917	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.055000	0.30467	0.211000	0.20683	-0.251000	0.11542	TCT	C15orf56	-	NULL	ENSG00000176753		0.731	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418370.2	29	0.00	0	G	NM_001039905		40544625	40544625	-1	no_errors	ENST00000319503	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.000	C
C16orf59	80178	genome.wustl.edu	37	16	2512165	2512165	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:2512165C>G	ENST00000361837.4	+	6	740	c.675C>G	c.(673-675)ctC>ctG	p.L225L	RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000569496.1_Silent_p.L225L|C16orf59_ENST00000483320.1_Silent_p.L58L|C16orf59_ENST00000563531.1_Silent_p.L225L|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	225										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGCCCAGCTCAGTTCCACAC	0.602																																						dbGAP											0													47.0	50.0	49.0					16																	2512165		2018	4186	6204	-	-	-	SO:0001819	synonymous_variant	0			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.675C>G	16.37:g.2512165C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	NULL	p.Q120E	ENST00000361837.4	37	c.358	CCDS10468.2	16																																																																																			C16orf59	-	NULL	ENSG00000162062		0.602	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf59	HGNC	protein_coding	OTTHUMT00000250802.3	52	0.00	0	C	NM_025108		2512165	2512165	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565716	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.103	G
C16orf96	342346	genome.wustl.edu	37	16	4625175	4625175	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:4625175G>C	ENST00000444310.4	+	5	694	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						TCTTCTGCAGGAAATTGGTTC	0.622																																						dbGAP											0													29.0	28.0	28.0					16																	4625175		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0				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.694-1G>C	16.37:g.4625175G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E232Q	ENST00000444310.4	37	c.694	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	9.265	1.044111	0.19748	.	.	ENSG00000205832	ENST00000444310	.	.	.	3.37	0.265	0.15612	.	.	.	.	.	T	0.23926	0.0579	N	0.24115	0.695	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.22347	-1.0219	7	.	.	.	.	5.5944	0.17319	0.377:0.0:0.623:0.0	.	232	A6NNT2	CP096_HUMAN	Q	232	.	.	E	+	1	0	C16orf96	4565176	0.199000	0.23386	0.004000	0.12327	0.006000	0.05464	0.481000	0.22260	0.101000	0.17610	0.462000	0.41574	GAA	C16orf96	-	NULL	ENSG00000205832		0.622	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	55	0.00	0	G	NM_001145011	Missense_Mutation	4625175	4625175	+1	no_errors	ENST00000444310	ensembl	human	known	69_37n	missense	33	12.82	5	SNP	0.048	C
C1QTNF7	114905	genome.wustl.edu	37	4	15443812	15443812	+	Missense_Mutation	SNP	C	C	A	rs148159746		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:15443812C>A	ENST00000444304.2	+	3	585	c.259C>A	c.(259-261)Ccg>Acg	p.P87T	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.P94T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P87T			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	87	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.P87T(4)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TAAGACTGGACCGCTAGGTCT	0.453																																						dbGAP											4	Substitution - Missense(4)	endometrium(4)											91.0	98.0	96.0					4																	15443812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.259C>A	4.37:g.15443812C>A	ENSP00000388914:p.Pro87Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT3|J3KPW3	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.P87T	ENST00000444304.2	37	c.259	CCDS3414.1	4	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498079	0.44455	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.96651	-4.08;-3.18;-3.18;-3.18;-3.18	5.49	4.64	0.57946	.	0.054676	0.64402	D	0.000001	D	0.95443	0.8520	M	0.83312	2.635	0.52501	D	0.999955	B	0.31705	0.336	B	0.31101	0.124	D	0.94131	0.7388	10	0.33141	T	0.24	.	13.6823	0.62493	0.0:0.9259:0.0:0.0741	.	87	Q9BXJ2	C1QT7_HUMAN	T	94;94;87;87;87	ENSP00000380812:P94T;ENSP00000295297:P94T;ENSP00000371820:P87T;ENSP00000410722:P87T;ENSP00000388914:P87T	ENSP00000295297:P94T	P	+	1	0	C1QTNF7	15052910	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	3.696000	0.54757	2.583000	0.87209	0.655000	0.94253	CCG	C1QTNF7	-	pfam_Collagen	ENSG00000163145		0.453	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1QTNF7	HGNC	protein_coding	OTTHUMT00000250891.2	101	0.00	0	C			15443812	15443812	+1	no_errors	ENST00000429690	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	1.000	A
C1QTNF8	390664	genome.wustl.edu	37	16	1144797	1144797	+	Silent	SNP	C	C	G	rs200565092		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:1144797C>G	ENST00000328449.5	-	3	399	c.126G>C	c.(124-126)gtG>gtC	p.V42V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	42						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCTGTCACTCACCCGGGCAT	0.692																																						dbGAP											0													37.0	39.0	38.0					16																	1144797		2189	4290	6479	-	-	-	SO:0001819	synonymous_variant	0			AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.126G>C	16.37:g.1144797C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U178	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.V42	ENST00000328449.5	37	c.126	CCDS32358.1	16																																																																																			C1QTNF8	-	NULL	ENSG00000184471		0.692	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF8	HGNC	protein_coding	OTTHUMT00000396120.1	83	0.00	0	C	XM_372606		1144797	1144797	-1	no_errors	ENST00000328449	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	0.001	G
SMIM12	113444	genome.wustl.edu	37	1	35321395	35321395	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:35321395G>C	ENST00000521580.2	-	2	328	c.184C>G	c.(184-186)Cta>Gta	p.L62V	SMIM12_ENST00000417239.1_Missense_Mutation_p.L62V|SMIM12_ENST00000446026.1_Missense_Mutation_p.L62V|SMIM12_ENST00000423898.1_Missense_Mutation_p.L62V|SMIM12_ENST00000456842.1_Missense_Mutation_p.L62V	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12	62						integral component of membrane (GO:0016021)											TCCTTGCCTAGAAGCTCATCC	0.547																																						dbGAP											0													87.0	81.0	83.0					1																	35321395		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.184C>G	1.37:g.35321395G>C	ENSP00000428585:p.Leu62Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Missense_Mutation	SNP	NULL	p.L62V	ENST00000521580.2	37	c.184	CCDS53295.1	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466009	0.26335	.	.	ENSG00000163866	ENST00000521580;ENST00000446026;ENST00000456842;ENST00000423898;ENST00000417239	.	.	.	5.88	4.79	0.61399	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.23254	N	0.998034	.	.	.	.	.	.	T	0.12041	-1.0563	5	0.22706	T	0.39	.	5.3335	0.15945	0.0854:0.1785:0.6061:0.1301	.	.	.	.	V	62	.	ENSP00000428541:L62V	L	-	1	2	C1orf212	35093982	0.002000	0.14202	1.000000	0.80357	0.994000	0.84299	0.611000	0.24268	2.790000	0.95986	0.591000	0.81541	CTA	C1orf212	-	NULL	ENSG00000163866		0.547	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf212	HGNC	protein_coding	OTTHUMT00000012715.3	200	0.00	0	G	NM_138428		35321395	35321395	-1	no_errors	ENST00000417239	ensembl	human	known	69_37n	missense	124	13.89	20	SNP	0.956	C
C1orf177	163747	genome.wustl.edu	37	1	55272746	55272746	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:55272746C>T	ENST00000371273.3	+	2	197	c.182C>T	c.(181-183)tCt>tTt	p.S61F	C1orf177_ENST00000358193.3_Missense_Mutation_p.S61F	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	61										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACGCGTTATTCTACCCAAGTG	0.567																																						dbGAP											0													198.0	180.0	186.0					1																	55272746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.182C>T	1.37:g.55272746C>T	ENSP00000360320:p.Ser61Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	NULL	p.S61F	ENST00000371273.3	37	c.182	CCDS44153.1	1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165543	0.38217	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.21543	2.0;2.0	3.72	3.72	0.42706	.	0.134384	0.32852	N	0.005578	T	0.36358	0.0964	L	0.51422	1.61	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.03043	-1.1079	10	0.66056	D	0.02	.	9.4998	0.39011	0.0:0.7841:0.2159:0.0	.	61;61	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	F	61	ENSP00000350924:S61F;ENSP00000360320:S61F	ENSP00000350924:S61F	S	+	2	0	C1orf177	55045334	0.190000	0.23276	0.036000	0.18154	0.010000	0.07245	2.104000	0.41815	2.381000	0.81170	0.462000	0.41574	TCT	C1orf177	-	NULL	ENSG00000162398		0.567	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	254	0.00	0	C	NM_152607		55272746	55272746	+1	no_errors	ENST00000371273	ensembl	human	known	69_37n	missense	124	14.97	22	SNP	0.027	T
MROH9	80133	genome.wustl.edu	37	1	170931075	170931075	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:170931075G>C	ENST00000367758.3	+	6	432	c.333G>C	c.(331-333)acG>acC	p.T111T	MROH9_ENST00000367759.4_Silent_p.T111T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	111								p.T111T(1)									ACATTCTTACGAGCTTGGTGT	0.308																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											38.0	37.0	37.0					1																	170931075		1797	4070	5867	-	-	-	SO:0001819	synonymous_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.333G>C	1.37:g.170931075G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	superfamily_ARM-type_fold	p.T111	ENST00000367758.3	37	c.333	CCDS41436.1	1																																																																																			C1orf129	-	superfamily_ARM-type_fold	ENSG00000117501		0.308	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	107	0.00	0	G	NM_025063		170931075	170931075	+1	no_errors	ENST00000367759	ensembl	human	known	69_37n	silent	54	11.48	7	SNP	0.656	C
C2orf16	84226	genome.wustl.edu	37	2	27802182	27802182	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:27802182G>C	ENST00000408964.2	+	1	2794	c.2743G>C	c.(2743-2745)Gaa>Caa	p.E915Q	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	915						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCTTTAGCAGAAAGAGCCAC	0.443																																						dbGAP											0													97.0	99.0	98.0					2																	27802182		1925	4142	6067	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2743G>C	2.37:g.27802182G>C	ENSP00000386190:p.Glu915Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.E915Q	ENST00000408964.2	37	c.2743	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558496	0.45590	.	.	ENSG00000221843	ENST00000408964	T	0.12984	2.63	5.51	2.57	0.30868	.	.	.	.	.	T	0.11239	0.0274	L	0.32530	0.975	0.09310	N	1	P	0.39181	0.663	B	0.40901	0.343	T	0.20273	-1.0280	9	0.87932	D	0	.	4.6404	0.12545	0.2005:0.1977:0.6018:0.0	.	915	Q68DN1	CB016_HUMAN	Q	915	ENSP00000386190:E915Q	ENSP00000386190:E915Q	E	+	1	0	C2orf16	27655686	0.953000	0.32496	0.050000	0.19076	0.859000	0.49053	0.857000	0.27831	1.321000	0.45227	0.591000	0.81541	GAA	C2orf16	-	NULL	ENSG00000221843		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	129	0.00	0	G	NM_032266		27802182	27802182	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	67	12.99	10	SNP	0.002	C
C2orf71	388939	genome.wustl.edu	37	2	29296153	29296153	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:29296153C>T	ENST00000331664.5	-	1	974	c.975G>A	c.(973-975)ctG>ctA	p.L325L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	325					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTAGCTGCCTCAGAGCCCTCA	0.582																																						dbGAP											0													61.0	67.0	65.0					2																	29296153		2182	4276	6458	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.975G>A	2.37:g.29296153C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L325	ENST00000331664.5	37	c.975	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	73	0.00	0	C	NM_001029883		29296153	29296153	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	49	10.91	6	SNP	0.975	T
CCDC174	51244	genome.wustl.edu	37	3	14706596	14706596	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:14706596C>T	ENST00000383794.3	+	6	620	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	CCDC174_ENST00000303688.7_Silent_p.L183L	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	183						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTTGCCAGATCTGCTGGAGAT	0.468																																						dbGAP											0													142.0	139.0	140.0					3																	14706596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.547C>T	3.37:g.14706596C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CS5	Silent	SNP	NULL	p.L183	ENST00000383794.3	37	c.547	CCDS2620.2	3																																																																																			C3orf19	-	NULL	ENSG00000154781		0.468	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf19	HGNC	protein_coding	OTTHUMT00000252077.2	359	0.28	1	C	NM_016474		14706596	14706596	+1	no_errors	ENST00000383794	ensembl	human	known	69_37n	silent	166	17.41	35	SNP	0.998	T
SUGCT	79783	genome.wustl.edu	37	7	40356401	40356401	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:40356401C>G	ENST00000335693.4	+	9	807	c.784C>G	c.(784-786)Caa>Gaa	p.Q262E	C7orf10_ENST00000401647.2_Missense_Mutation_p.Q214E|C7orf10_ENST00000309930.5_Missense_Mutation_p.Q262E	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		262					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TCTTATTGGTCAAAAGGAAGC	0.383																																						dbGAP											0													93.0	88.0	90.0					7																	40356401		1868	4119	5987	-	-	-	SO:0001583	missense	0																														ENST00000335693.4:c.784C>G	7.37:g.40356401C>G	ENSP00000338475:p.Gln262Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.Q262E	ENST00000335693.4	37	c.784	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	C	2.652	-0.281776	0.05642	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	T;T;T	0.54071	0.59;0.59;0.59	5.59	3.68	0.42216	CoA-transferase family III domain (2);	0.295866	0.38837	N	0.001558	T	0.37758	0.1015	L	0.31294	0.92	0.09310	N	0.99999	B;B;B	0.15473	0.013;0.008;0.003	B;B;B	0.17098	0.017;0.016;0.009	T	0.27157	-1.0082	10	0.72032	D	0.01	-12.8727	7.9184	0.29831	0.2584:0.5998:0.1417:0.0	.	214;262;225	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	E	262;214;262	ENSP00000312054:Q262E;ENSP00000385222:Q214E;ENSP00000338475:Q262E	ENSP00000312054:Q262E	Q	+	1	0	C7orf10	40322926	0.977000	0.34250	0.904000	0.35570	0.181000	0.23173	2.219000	0.42899	2.788000	0.95919	0.557000	0.71058	CAA	C7orf10	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	ENSG00000175600		0.383	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	168	0.00	0	C			40356401	40356401	+1	no_errors	ENST00000309930	ensembl	human	known	69_37n	missense	106	11.57	14	SNP	0.074	G
C8orf58	541565	genome.wustl.edu	37	8	22458455	22458455	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:22458455G>A	ENST00000289989.5	+	2	175	c.101G>A	c.(100-102)aGa>aAa	p.R34K	C8orf58_ENST00000453427.2_3'UTR|AC037459.4_ENST00000430850.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.R34K			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	34										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCACCTACAGACGGATCCCC	0.657																																						dbGAP											0													33.0	36.0	35.0					8																	22458455		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.101G>A	8.37:g.22458455G>A	ENSP00000289989:p.Arg34Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI44	Missense_Mutation	SNP	NULL	p.R34K	ENST00000289989.5	37	c.101	CCDS34862.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.9|20.9	4.066225|4.066225	0.76187|0.76187	.|.	.|.	ENSG00000248235|ENSG00000248235;ENSG00000241852;ENSG00000241852	ENST00000447849|ENST00000450780;ENST00000409586;ENST00000289989	.|.	.|.	.|.	4.63|4.63	3.69|3.69	0.42338|0.42338	.|.	.|0.190210	.|0.22378	.|N	.|0.060855	T|T	0.61476|0.61476	0.2350|0.2350	M|M	0.68317|0.68317	2.08|2.08	0.24200|0.24200	N|N	0.99551|0.99551	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.75484	.|0.986;0.986	T|T	0.49753|0.49753	-0.8906|-0.8906	5|9	.|0.27082	.|T	.|0.32	-10.8988|-10.8988	10.505|10.505	0.44828|0.44828	0.0:0.0:0.8071:0.1929|0.0:0.0:0.8071:0.1929	.|.	.|34;34	.|Q8NAV2-2;Q8NAV2	.|.;CH058_HUMAN	N|K	126|103;34;34	.|.	.|ENSP00000399696:R103K	D|R	+|+	1|2	0|0	AC037459.4|AC037459.4;C8orf58	22514400|22514400	0.990000|0.990000	0.36364|0.36364	0.937000|0.937000	0.37676|0.37676	0.856000|0.856000	0.48823|0.48823	3.272000|3.272000	0.51616|0.51616	2.267000|2.267000	0.75376|0.75376	0.448000|0.448000	0.29417|0.29417	GAC|AGA	C8orf58	-	NULL	ENSG00000241852		0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	30	0.00	0	G	NM_001013842		22458455	22458455	+1	no_errors	ENST00000289989	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.731	A
C9	735	genome.wustl.edu	37	5	39316109	39316109	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:39316109C>T	ENST00000263408.4	-	6	733	c.638G>A	c.(637-639)aGa>aAa	p.R213K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	213	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATGTTCGGTTCTGAAATTTTT	0.313																																						dbGAP											0													56.0	53.0	54.0					5																	39316109		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.638G>A	5.37:g.39316109C>T	ENSP00000263408:p.Arg213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R213K	ENST00000263408.4	37	c.638	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476991	0.26511	.	.	ENSG00000113600	ENST00000263408	T	0.30714	1.52	5.56	3.77	0.43336	Membrane attack complex component/perforin (MACPF) domain (1);	0.164579	0.53938	N	0.000058	T	0.29684	0.0741	M	0.81802	2.56	0.20873	N	0.999835	B	0.20887	0.049	B	0.20577	0.03	T	0.38436	-0.9661	10	0.07813	T	0.8	-32.55	7.5501	0.27790	0.0:0.7139:0.1358:0.1503	.	213	P02748	CO9_HUMAN	K	213	ENSP00000263408:R213K	ENSP00000263408:R213K	R	-	2	0	C9	39351866	0.998000	0.40836	0.593000	0.28771	0.408000	0.30992	0.601000	0.24119	0.813000	0.34350	0.655000	0.94253	AGA	C9	-	NULL	ENSG00000113600		0.313	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	148	0.00	0	C			39316109	39316109	-1	no_errors	ENST00000263408	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	0.537	T
STKLD1	169436	genome.wustl.edu	37	9	136263151	136263151	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:136263151G>C	ENST00000371957.3	+	11	1157	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		350							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGCCATGAAGAGGCTTCTGA	0.617																																						dbGAP											0													63.0	60.0	61.0					9																	136263151		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000371957.3:c.1050G>C	9.37:g.136263151G>C	ENSP00000361025:p.Lys350Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K350N	ENST00000371957.3	37	c.1050	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	G	4.265	0.048336	0.08243	.	.	ENSG00000198870	ENST00000371957	T	0.48201	0.82	4.74	0.521	0.17046	Armadillo-like helical (1);Armadillo-type fold (1);	0.621363	0.15266	N	0.271524	T	0.24431	0.0592	N	0.16307	0.4	0.09310	N	0.999998	B	0.22276	0.067	B	0.12837	0.008	T	0.15896	-1.0421	10	0.19590	T	0.45	-17.0345	5.6194	0.17450	0.1916:0.3224:0.486:0.0	.	350	Q8NE28	SGK71_HUMAN	N	350	ENSP00000361025:K350N	ENSP00000361025:K350N	K	+	3	2	C9orf96	135252972	0.013000	0.17824	0.035000	0.18076	0.154000	0.21943	0.155000	0.16362	0.134000	0.18681	0.561000	0.74099	AAG	C9orf96	-	superfamily_ARM-type_fold	ENSG00000198870		0.617	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	111	0.00	0	G			136263151	136263151	+1	no_errors	ENST00000371957	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.003	C
CA1	759	genome.wustl.edu	37	8	86242044	86242044	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:86242044G>C	ENST00000523953.1	-	8	1589	c.543C>G	c.(541-543)gaC>gaG	p.D181E	CA1_ENST00000432364.2_Missense_Mutation_p.D181E|CA1_ENST00000523022.1_Missense_Mutation_p.D181E|CA1_ENST00000431316.1_Missense_Mutation_p.D181E|CA1_ENST00000542576.1_Missense_Mutation_p.D181E|CA1_ENST00000256119.5_Missense_Mutation_p.D181E|CA1_ENST00000522389.1_Missense_Mutation_p.D47E			P00915	CAH1_HUMAN	carbonic anhydrase I	181					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GAGTAGAGGGGTCAAAATTTG	0.403																																						dbGAP											0													63.0	59.0	61.0					8																	86242044		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.543C>G	8.37:g.86242044G>C	ENSP00000430656:p.Asp181Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D181E	ENST00000523953.1	37	c.543	CCDS6237.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.834560|3.834560	0.71373|0.71373	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000522389;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663|ENST00000521679	T;T;T;T;T;T;T;T;T;T;T|.	0.70749|.	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51|.	4.5|4.5	2.67|2.67	0.31697|0.31697	Carbonic anhydrase, alpha-class, catalytic domain (4);|.	0.295300|.	0.40469|.	N|.	0.001085|.	T|T	0.66607|0.66607	0.2806|0.2806	M|M	0.85859|0.85859	2.78|2.78	0.48236|0.48236	D|D	0.999615|0.999615	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.64407|0.64407	-0.6415|-0.6415	10|5	0.72032|.	D|.	0.01|.	-18.6025|-18.6025	3.8072|3.8072	0.08782|0.08782	0.2743:0.1896:0.5361:0.0|0.2743:0.1896:0.5361:0.0	.|.	181|.	P00915|.	CAH1_HUMAN|.	E|A	181;181;181;181;181;181;47;115;181;68;68|118	ENSP00000430656:D181E;ENSP00000256119:D181E;ENSP00000392338:D181E;ENSP00000443517:D181E;ENSP00000401551:D181E;ENSP00000429798:D181E;ENSP00000427773:D47E;ENSP00000428923:D115E;ENSP00000430861:D181E;ENSP00000430543:D68E;ENSP00000430571:D68E|.	ENSP00000256119:D181E|.	D|P	-|-	3|1	2|0	CA1|CA1	86429296|86429296	0.993000|0.993000	0.37304|0.37304	0.998000|0.998000	0.56505|0.56505	0.934000|0.934000	0.57294|0.57294	0.282000|0.282000	0.18829|0.18829	0.612000|0.612000	0.30071|0.30071	-0.175000|-0.175000	0.13238|0.13238	GAC|CCC	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.403	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1	276	0.00	0	G	NM_001738		86242044	86242044	-1	no_errors	ENST00000256119	ensembl	human	known	69_37n	missense	128	11.11	16	SNP	1.000	C
CACNA1D	776	genome.wustl.edu	37	3	53766067	53766067	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:53766067G>C	ENST00000350061.5	+	18	2942	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E811Q|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E831Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	811					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTATAGAGAAGAGGATGAAGA	0.507																																						dbGAP											0													91.0	85.0	87.0					3																	53766067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2431G>C	3.37:g.53766067G>C	ENSP00000288133:p.Glu811Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.E831Q	ENST00000350061.5	37	c.2491	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998009	0.54147	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96136	-3.88;-3.92;-3.91;-3.9	5.66	5.66	0.87406	.	0.113376	0.39341	N	0.001397	D	0.94098	0.8108	M	0.64260	1.97	0.80722	D	1	B;B;B;B	0.25486	0.008;0.0;0.007;0.127	B;B;B;B	0.23018	0.018;0.002;0.011;0.043	D	0.91316	0.5078	10	0.41790	T	0.15	.	17.2663	0.87087	0.0:0.0:1.0:0.0	.	811;504;811;831	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	Q	811;831;811;504	ENSP00000288133:E811Q;ENSP00000288139:E831Q;ENSP00000409174:E811Q;ENSP00000418014:E504Q	ENSP00000288139:E831Q	E	+	1	0	CACNA1D	53741107	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.894000	0.63206	2.814000	0.96858	0.655000	0.94253	GAG	CACNA1D	-	NULL	ENSG00000157388		0.507	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	158	0.00	0	G	NM_000720		53766067	53766067	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	1.000	C
CALCOCO2	10241	genome.wustl.edu	37	17	46926688	46926688	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:46926688C>G	ENST00000258947.3	+	5	593	c.492C>G	c.(490-492)atC>atG	p.I164M	CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I92M|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I185M|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I188M	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	164					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACAGCTGTATCAGCCTCCAGA	0.473																																						dbGAP											0													132.0	132.0	132.0					17																	46926688		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.492C>G	17.37:g.46926688C>G	ENSP00000258947:p.Ile164Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	pfam_CoCoA	p.I164M	ENST00000258947.3	37	c.492	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707239	0.30322	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000513119;ENST00000508679;ENST00000502761	T;T;T;T;T;T;T	0.28069	2.93;2.93;2.93;1.63;2.36;2.61;2.86	5.94	-2.42	0.06542	.	0.786555	0.11109	N	0.598814	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B;B;B	0.29612	0.081;0.251;0.083	B;B;B	0.35470	0.203;0.203;0.157	T	0.27297	-1.0078	10	0.48119	T	0.1	-1.3174	1.9613	0.03387	0.115:0.1885:0.3174:0.3791	.	188;185;164	B4DP36;E9PBE5;Q13137	.;.;CACO2_HUMAN	M	164;185;188;136;92;92;164	ENSP00000258947:I164M;ENSP00000424352:I185M;ENSP00000398523:I188M;ENSP00000425692:I136M;ENSP00000425090:I92M;ENSP00000423437:I92M;ENSP00000424889:I164M	ENSP00000258947:I164M	I	+	3	3	CALCOCO2	44281687	0.000000	0.05858	0.213000	0.23690	0.932000	0.56968	-0.573000	0.05874	-0.011000	0.14247	-0.254000	0.11334	ATC	CALCOCO2	-	pfam_CoCoA	ENSG00000136436		0.473	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	146	0.00	0	C	NM_005831		46926688	46926688	+1	no_errors	ENST00000258947	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	0.005	G
CAMTA1	23261	genome.wustl.edu	37	1	7806023	7806023	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:7806023G>C	ENST00000303635.7	+	18	4696	c.4489G>C	c.(4489-4491)Gaa>Caa	p.E1497Q	CAMTA1_ENST00000476864.1_Missense_Mutation_p.E61Q|CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1483Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGATTGGTCAGAATTCCTGAG	0.502			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													110.0	107.0	108.0					1																	7806023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4489G>C	1.37:g.7806023G>C	ENSP00000306522:p.Glu1497Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E1497Q	ENST00000303635.7	37	c.4489	CCDS30576.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.095301|5.095301	0.94197|0.94197	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000303646;ENST00000476864|ENST00000495233;ENST00000490905	T;T;T|.	0.59638|.	1.62;1.68;0.25|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.047657|.	0.85682|.	D|.	0.000000|.	T|T	0.78591|0.78591	0.4307|0.4307	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.986|.	D;D|.	0.91635|.	0.999;0.914|.	T|T	0.77451|0.77451	-0.2583|-0.2583	10|5	0.59425|.	D|.	0.04|.	-13.7615|-13.7615	19.8725|19.8725	0.96855|0.96855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453;1497|.	Q7Z7P1;Q9Y6Y1|.	.;CMTA1_HUMAN|.	Q|H	1497;1483;453;61|453;62	ENSP00000306522:E1497Q;ENSP00000402561:E1483Q;ENSP00000452319:E61Q|.	ENSP00000306522:E1497Q|.	E|Q	+|+	1|3	0|2	CAMTA1|CAMTA1	7728610|7728610	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.981000|0.981000	0.71138|0.71138	6.599000|6.599000	0.74127|0.74127	2.688000|2.688000	0.91661|0.91661	0.561000|0.561000	0.74099|0.74099	GAA|CAG	CAMTA1	-	NULL	ENSG00000171735		0.502	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	154	0.00	0	G	NM_015215		7806023	7806023	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	C
CAMK1G	57172	genome.wustl.edu	37	1	209773405	209773405	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:209773405C>T	ENST00000009105.1	+	3	415	c.170C>T	c.(169-171)tCa>tTa	p.S57L	CAMK1G_ENST00000361322.2_Missense_Mutation_p.S57L			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCAAGAAGTCACCTGCCTTC	0.463																																					Ovarian(163;530 1939 9680 28669 48710)	dbGAP											0													128.0	116.0	120.0					1																	209773405		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.170C>T	1.37:g.209773405C>T	ENSP00000009105:p.Ser57Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UH5|Q9Y3J7	Missense_Mutation	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.S57L	ENST00000009105.1	37	c.170	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121801	0.56613	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.66460	-0.21;-0.21;-0.21	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143103	0.32593	N	0.005895	T	0.57446	0.2054	L	0.42008	1.315	0.41423	D	0.98781	P;B	0.34615	0.459;0.063	B;B	0.25759	0.054;0.063	T	0.56038	-0.8045	10	0.20519	T	0.43	.	19.4157	0.94697	0.0:1.0:0.0:0.0	.	57;57	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	L	57	ENSP00000009105:S57L;ENSP00000392173:S57L;ENSP00000354861:S57L	ENSP00000009105:S57L	S	+	2	0	CAMK1G	207840028	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.752000	0.62176	2.589000	0.87451	0.563000	0.77884	TCA	CAMK1G	-	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	ENSG00000008118		0.463	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1	106	0.00	0	C	NM_020439		209773405	209773405	+1	no_errors	ENST00000009105	ensembl	human	known	69_37n	missense	71	11.25	9	SNP	0.997	T
CASC3	22794	genome.wustl.edu	37	17	38324472	38324472	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:38324472G>C	ENST00000264645.7	+	11	1993	c.1767G>C	c.(1765-1767)caG>caC	p.Q589H		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	589	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ATCCCCACCAGACACCAGCTC	0.488											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													122.0	120.0	121.0					17																	38324472		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1767G>C	17.37:g.38324472G>C	ENSP00000264645:p.Gln589His	Somatic	877	WXS	Illumina GAIIx	Phase_IV	A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.Q589H	ENST00000264645.7	37	c.1767	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846902	0.91277	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.86	5.86	0.93980	.	0.063440	0.64402	D	0.000003	T	0.65709	0.2717	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.66995	-0.5782	9	0.59425	D	0.04	-13.4757	19.7876	0.96444	0.0:0.0:1.0:0.0	.	589	O15234	CASC3_HUMAN	H	589	.	ENSP00000264645:Q589H	Q	+	3	2	CASC3	35577998	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.949000	0.70257	2.778000	0.95560	0.655000	0.94253	CAG	CASC3	-	NULL	ENSG00000108349		0.488	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	352	0.00	0	G	NM_007359		38324472	38324472	+1	no_errors	ENST00000264645	ensembl	human	known	69_37n	missense	165	10.33	19	SNP	1.000	C
CBLN2	147381	genome.wustl.edu	37	18	70205948	70205948	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:70205948T>G	ENST00000269503.4	-	4	1190	c.417A>C	c.(415-417)agA>agC	p.R139S	CBLN2_ENST00000584764.1_Missense_Mutation_p.R23S|CBLN2_ENST00000585159.1_Missense_Mutation_p.R139S|CBLN2_ENST00000581073.1_Missense_Mutation_p.R25S|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	139	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AAATCCCTTTTCTCGGTGCTA	0.418																																						dbGAP											0													118.0	111.0	113.0					18																	70205948		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.417A>C	18.37:g.70205948T>G	ENSP00000269503:p.Arg139Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Z56	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R139S	ENST00000269503.4	37	c.417	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900278	0.33535	.	.	ENSG00000141668	ENST00000269503	T	0.74526	-0.85	5.51	-3.08	0.05347	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	M	0.80183	2.485	0.49798	D	0.999825	D	0.67145	0.996	D	0.67725	0.953	T	0.79305	-0.1858	10	0.66056	D	0.02	-13.9808	9.1621	0.37030	0.0:0.443:0.1106:0.4464	.	139	Q8IUK8	CBLN2_HUMAN	S	139	ENSP00000269503:R139S	ENSP00000269503:R139S	R	-	3	2	CBLN2	68356928	0.172000	0.23043	0.230000	0.23976	0.968000	0.65278	-0.379000	0.07437	-0.712000	0.04988	-0.353000	0.07706	AGA	CBLN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000141668		0.418	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	HGNC	protein_coding	OTTHUMT00000256288.1	245	0.00	0	T	NM_182511		70205948	70205948	-1	no_errors	ENST00000269503	ensembl	human	known	69_37n	missense	132	12.00	18	SNP	0.931	G
DRC7	84229	genome.wustl.edu	37	16	57758646	57758646	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:57758646C>G	ENST00000360716.3	+	13	1878	c.1657C>G	c.(1657-1659)Caa>Gaa	p.Q553E	CCDC135_ENST00000394337.4_Missense_Mutation_p.Q553E|CCDC135_ENST00000336825.8_Missense_Mutation_p.Q488E			Q8IY82	CC135_HUMAN		553					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGAGTACTATCAAGGACGCCC	0.562																																						dbGAP											0													106.0	91.0	96.0					16																	57758646		2198	4300	6498	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.1657C>G	16.37:g.57758646C>G	ENSP00000353942:p.Gln553Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.Q553E	ENST00000360716.3	37	c.1657	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153763	0.06585	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.08720	3.22;3.06;3.22	5.29	0.361	0.16107	.	0.630797	0.16183	N	0.225739	T	0.03434	0.0099	N	0.10945	0.07	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.46062	-0.9218	10	0.06494	T	0.89	-0.3663	9.1319	0.36850	0.2178:0.4446:0.3376:0.0	.	488;553	Q8IY82-2;Q8IY82	.;CC135_HUMAN	E	553;488;553	ENSP00000377869:Q553E;ENSP00000338938:Q488E;ENSP00000353942:Q553E	ENSP00000338938:Q488E	Q	+	1	0	CCDC135	56316147	0.062000	0.20869	0.001000	0.08648	0.803000	0.45373	2.045000	0.41250	0.557000	0.29117	0.655000	0.94253	CAA	CCDC135	-	NULL	ENSG00000159625		0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	123	0.00	0	C			57758646	57758646	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	94	20.34	24	SNP	0.289	G
CCDC136	64753	genome.wustl.edu	37	7	128451956	128451956	+	Missense_Mutation	SNP	G	G	C	rs538763923		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:128451956G>C	ENST00000297788.4	+	13	2498	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	711						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGGCTCCTAGAGGAGCGGAA	0.557																																						dbGAP											0													65.0	66.0	65.0					7																	128451956		1918	4140	6058	-	-	-	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2131G>C	7.37:g.128451956G>C	ENSP00000297788:p.Glu711Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.E711Q	ENST00000297788.4	37	c.2131	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.662858|4.662858	0.88251|0.88251	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.53640|.	0.61;0.61|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.71239|.	0.3316|.	M|M	0.74258|0.74258	2.255|2.255	0.33126|0.33126	D|D	0.542404|0.542404	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.998|.	T|.	0.77718|.	-0.2483|.	10|.	0.54805|.	T|.	0.06|.	-31.4107|-31.4107	15.8438|15.8438	0.78871|0.78871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	711;711;711|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	Q|Y	711;711;711;302|587	ENSP00000297788:E711Q;ENSP00000417991:E302Q|.	ENSP00000297788:E711Q|.	E|X	+|+	1|3	0|2	CCDC136|CCDC136	128239192|128239192	0.996000|0.996000	0.38824|0.38824	0.971000|0.971000	0.41717|0.41717	0.982000|0.982000	0.71751|0.71751	3.116000|3.116000	0.50399|0.50399	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GAG|TAG	CCDC136	-	NULL	ENSG00000128596		0.557	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	90	0.00	0	G	NM_022742		128451956	128451956	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.989	C
CCDC144A	9720	genome.wustl.edu	37	17	16612420	16612420	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:16612420C>G	ENST00000360524.8	+	5	1125	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	CCDC144A_ENST00000340621.5_Missense_Mutation_p.S349C|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.S350C|CCDC144A_ENST00000399273.1_Missense_Mutation_p.S350C|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.S350C|CCDC144A_ENST00000456009.1_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	350																	GAAGATGCATCTGAAATATCT	0.383																																						dbGAP											0													20.0	22.0	22.0					17																	16612420		1759	3963	5722	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1049C>G	17.37:g.16612420C>G	ENSP00000353717:p.Ser350Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.S350C	ENST00000360524.8	37	c.1049	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	9.750	1.167238	0.21621	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	1.26	-1.5	0.08691	.	.	.	.	.	T	0.16342	0.0393	N	0.22421	0.69	0.09310	N	0.999999	D	0.62365	0.991	P	0.52710	0.707	T	0.12293	-1.0553	8	.	.	.	.	2.3962	0.04390	0.2631:0.4333:0.0:0.3036	.	350	A2RUR9	C144A_HUMAN	C	349;350;350;350;350;350	ENSP00000344740:S349C;ENSP00000382215:S350C;ENSP00000439262:S350C;ENSP00000440655:S350C;ENSP00000353717:S350C;ENSP00000353685:S350C	.	S	+	2	0	CCDC144A	16553145	0.929000	0.31497	0.176000	0.23000	0.070000	0.16714	-0.227000	0.09126	-0.236000	0.09753	0.175000	0.17021	TCT	CCDC144A	-	NULL	ENSG00000170160		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	295	0.00	0	C			16612420	16612420	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	106	25.87	37	SNP	0.001	G
CCDC144A	9720	genome.wustl.edu	37	17	16638898	16638898	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:16638898G>A	ENST00000360524.8	+	12	3389	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K	CCDC144A_ENST00000443444.2_Missense_Mutation_p.E1105K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1105K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1105K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E825K	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1105																	GCTGATGGATGAATATAATCA	0.333																																						dbGAP											0													2.0	1.0	1.0					17																	16638898		645	1522	2167	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3313G>A	17.37:g.16638898G>A	ENSP00000353717:p.Glu1105Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.E1105K	ENST00000360524.8	37	c.3313	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.304|3.304	-0.142188|-0.142188	0.06669|0.06669	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000328495	T;T;T;T|.	0.15718|.	2.4;2.4;2.4;2.4|.	2.08|2.08	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.21545|0.21545	0.675|0.675	0.09310|0.09310	N|N	1|1	B;B|.	0.32573|.	0.189;0.376|.	B;B|.	0.43251|.	0.413;0.298|.	T|T	0.18587|0.18587	-1.0332|-1.0332	9|5	0.28530|.	T|.	0.3|.	.|.	4.6945|4.6945	0.12797|0.12797	0.1931:0.0:0.8069:0.0|0.1931:0.0:0.8069:0.0	.|.	825;1105|.	A2RUR9-3;A2RUR9|.	.;C144A_HUMAN|.	K|I	1105;1105;1105;825|588	ENSP00000382215:E1105K;ENSP00000439262:E1105K;ENSP00000353717:E1105K;ENSP00000394201:E825K|.	ENSP00000353717:E1105K|.	E|M	+|+	1|3	0|0	CCDC144A|CCDC144A	16579623|16579623	0.997000|0.997000	0.39634|0.39634	0.127000|0.127000	0.21898|0.21898	0.033000|0.033000	0.12548|0.12548	4.050000|4.050000	0.57404|0.57404	1.153000|1.153000	0.42468|0.42468	0.393000|0.393000	0.25936|0.25936	GAA|ATG	CCDC144A	-	NULL	ENSG00000170160		0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	22	0.00	0	G			16638898	16638898	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.541	A
CCDC17	149483	genome.wustl.edu	37	1	46087134	46087134	+	Missense_Mutation	SNP	C	C	G	rs570621990		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:46087134C>G	ENST00000528266.1	-	10	1354	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	CCDC17_ENST00000464739.1_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.D371H|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.D394H			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	403										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CGCAGGAAATCATAGAAAATG	0.557																																						dbGAP											0													37.0	37.0	37.0					1																	46087134		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1207G>C	1.37:g.46087134C>G	ENSP00000432172:p.Asp403His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	NULL	p.D371H	ENST00000528266.1	37	c.1111	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003783	0.54254	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.66638	-0.14;-0.22;-0.2	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	M	0.72894	2.215	0.49915	D	0.99983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.82196	-0.0577	10	0.87932	D	0	-27.4515	13.2051	0.59790	0.0:0.9217:0.0:0.0783	.	403;394;371	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	H	394;371;403	ENSP00000389415:D394H;ENSP00000341451:D371H;ENSP00000432172:D403H	ENSP00000341451:D371H	D	-	1	0	CCDC17	45859721	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	5.518000	0.67068	1.317000	0.45149	-0.229000	0.12294	GAT	CCDC17	-	NULL	ENSG00000159588		0.557	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	85	0.00	0	C	NM_152500		46087134	46087134	-1	no_errors	ENST00000343901	ensembl	human	known	69_37n	missense	55	15.15	10	SNP	1.000	G
CCDC18	343099	genome.wustl.edu	37	1	93711671	93711671	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:93711671G>C	ENST00000343253.7	+	22	3490	c.2988G>C	c.(2986-2988)aaG>aaC	p.K996N	CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K997N|CCDC18_ENST00000338949.4_Missense_Mutation_p.K752N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K1115N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	996										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAGAATGCAAGATGGAGATTG	0.348																																						dbGAP											0													114.0	113.0	113.0					1																	93711671		1813	4065	5878	-	-	-	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2988G>C	1.37:g.93711671G>C	ENSP00000343377:p.Lys996Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K1115N	ENST00000343253.7	37	c.3345		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.737433|2.737433	0.49045|0.49045	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T|.	0.78816|.	-1.21;-1.21|.	5.73|5.73	2.87|2.87	0.33458|0.33458	.|.	0.176252|.	0.49916|.	D|.	0.000134|.	T|T	0.46521|0.46521	0.1397|0.1397	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	P;D|.	0.59357|.	0.934;0.985|.	P;P|.	0.56612|.	0.71;0.802|.	T|T	0.41822|0.41822	-0.9487|-0.9487	10|5	0.24483|.	T|.	0.36|.	.|.	10.7191|10.7191	0.46030|0.46030	0.2051:0.0:0.7949:0.0|0.2051:0.0:0.7949:0.0	.|.	996;1115|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|T	996;997;1115;752;672|1050	ENSP00000383808:K997N;ENSP00000451099:K1115N|.	ENSP00000344380:K752N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93484259|93484259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.037000|2.037000	0.41174|0.41174	0.779000|0.779000	0.33543|0.33543	0.655000|0.655000	0.94253|0.94253	AAG|AGA	CCDC18	-	superfamily_Prefoldin	ENSG00000122483		0.348	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	176	0.00	0	G	NM_206886		93711671	93711671	+1	no_errors	ENST00000557479	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	C
CCDC40	55036	genome.wustl.edu	37	17	78059891	78059891	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:78059891G>A	ENST00000397545.4	+	14	2352	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	CCDC40_ENST00000374877.3_Silent_p.V775V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	775					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCCCAGGTGACCTGGCTGC	0.612																																						dbGAP											0													41.0	48.0	46.0					17																	78059891		2093	4198	6291	-	-	-	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2325G>A	17.37:g.78059891G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.V775	ENST00000397545.4	37	c.2325	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	74	0.00	0	G	XM_371082		78059891	78059891	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.492	A
CEP83	51134	genome.wustl.edu	37	12	94727325	94727325	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:94727325C>G	ENST00000397809.5	-	13	2059	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	CCDC41_ENST00000397807.2_Missense_Mutation_p.E471Q|CCDC41_ENST00000339839.5_Missense_Mutation_p.E504Q	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		496					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTAATCTCTCCACCATTTCC	0.368																																						dbGAP											0													136.0	123.0	127.0					12																	94727325		1838	4087	5925	-	-	-	SO:0001583	missense	0																														ENST00000397809.5:c.1510G>C	12.37:g.94727325C>G	ENSP00000380911:p.Glu504Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.E504Q	ENST00000397809.5	37	c.1510	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875714	0.72180	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.56611	1.95;1.95;0.45	5.91	5.91	0.95273	.	.	.	.	.	T	0.71375	0.3332	L	0.59436	1.845	0.44816	D	0.997827	D;D	0.89917	0.999;1.0	D;D	0.85130	0.974;0.997	T	0.69837	-0.5037	9	0.54805	T	0.06	-12.0552	19.8906	0.96929	0.0:1.0:0.0:0.0	.	471;496	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	Q	504;504;471	ENSP00000344655:E504Q;ENSP00000380911:E504Q;ENSP00000380909:E471Q	ENSP00000344655:E504Q	E	-	1	0	CCDC41	93251456	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.547000	0.67249	2.805000	0.96524	0.460000	0.39030	GAG	CCDC41	-	NULL	ENSG00000173588		0.368	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	456	0.00	0	C			94727325	94727325	-1	no_errors	ENST00000339839	ensembl	human	known	69_37n	missense	269	10.63	32	SNP	1.000	G
CCNE1	898	genome.wustl.edu	37	19	30311662	30311662	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:30311662C>G	ENST00000262643.3	+	7	795	c.516C>G	c.(514-516)ttC>ttG	p.F172L	CCNE1_ENST00000444983.2_Missense_Mutation_p.F157L|CCNE1_ENST00000357943.5_Intron	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	172					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CACAAGATTTCTTTGACCGGT	0.338			A		serous ovarian																																	dbGAP		Dom	yes		19	19q12	898	cyclin E1		E	0													63.0	64.0	63.0					19																	30311662		2203	4300	6503	-	-	-	SO:0001583	missense	0			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.516C>G	19.37:g.30311662C>G	ENSP00000262643:p.Phe172Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.F172L	ENST00000262643.3	37	c.516	CCDS12419.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.717961	0.96839	.	.	ENSG00000105173	ENST00000262643;ENST00000444983	T;T	0.08807	3.05;3.05	5.97	5.97	0.96955	Cyclin, N-terminal (2);Cyclin-like (3);	0.045449	0.85682	D	0.000000	T	0.11965	0.0291	N	0.20845	0.615	0.80722	D	1	D	0.67145	0.996	P	0.53006	0.715	T	0.25779	-1.0122	10	0.22109	T	0.4	.	19.4017	0.94632	0.0:1.0:0.0:0.0	.	172	P24864	CCNE1_HUMAN	L	172;157	ENSP00000262643:F172L;ENSP00000410179:F157L	ENSP00000262643:F172L	F	+	3	2	CCNE1	35003502	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.811000	0.86092	2.835000	0.97688	0.591000	0.81541	TTC	CCNE1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105173		0.338	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE1	HGNC	protein_coding	OTTHUMT00000438138.1	194	0.00	0	C	NM_001238		30311662	30311662	+1	no_errors	ENST00000262643	ensembl	human	known	69_37n	missense	123	13.38	19	SNP	1.000	G
CCT6P1	643253	genome.wustl.edu	37	7	65220800	65220800	+	RNA	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:65220800G>A	ENST00000442266.1	+	0	316				SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TGAAGGATTTGAAGCTGTGAA	0.388																																						dbGAP											0																																										-	-	-			0			BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65220800G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000442266.1	37	NULL		7																																																																																			CCT6P1	-	-	ENSG00000228409		0.388	CCT6P1-003	KNOWN	basic	processed_transcript	CCT6P1	HGNC	pseudogene	OTTHUMT00000345507.1	198	0.00	0	G	NR_003110		65220800	65220800	+1	no_errors	ENST00000442266	ensembl	human	known	69_37n	rna	104	11.86	14	SNP	1.000	A
CCT6P1	643253	genome.wustl.edu	37	7	65220808	65220808	+	RNA	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:65220808G>A	ENST00000442266.1	+	0	324				SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTGAAGCTGTGAAGGAAAAGC	0.388																																						dbGAP											0																																										-	-	-			0			BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65220808G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000442266.1	37	NULL		7																																																																																			CCT6P1	-	-	ENSG00000228409		0.388	CCT6P1-003	KNOWN	basic	processed_transcript	CCT6P1	HGNC	pseudogene	OTTHUMT00000345507.1	192	0.00	0	G	NR_003110		65220808	65220808	+1	no_errors	ENST00000442266	ensembl	human	known	69_37n	rna	103	11.21	13	SNP	0.973	A
CD151	977	genome.wustl.edu	37	11	838147	838147	+	Silent	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:838147C>A	ENST00000397420.3	+	9	966	c.717C>A	c.(715-717)atC>atA	p.I239I	CD151_ENST00000397421.1_Silent_p.I239I|CD151_ENST00000322008.4_Silent_p.I239I|CD151_ENST00000528011.1_Silent_p.I237I			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	239					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGCATGATCTTCACGTGCT	0.617																																					Esophageal Squamous(14;501 559 15826 37823 38305)	dbGAP											0													153.0	129.0	137.0					11																	838147		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.717C>A	11.37:g.838147C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.I239	ENST00000397420.3	37	c.717	CCDS7719.1	11																																																																																			CD151	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000177697		0.617	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD151	HGNC	protein_coding	OTTHUMT00000257108.1	181	0.00	0	C	NM_004357		838147	838147	+1	no_errors	ENST00000322008	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	1.000	A
CD86	942	genome.wustl.edu	37	3	121825137	121825137	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:121825137G>A	ENST00000330540.2	+	4	609	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	CD86_ENST00000493101.1_Missense_Mutation_p.E53K|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E159K|CD86_ENST00000469710.1_Missense_Mutation_p.E83K	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	165	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CGGTTACCCAGAACCTAAGAA	0.358																																					GBM(67;1379 1389 36064 39806)	dbGAP											0													88.0	84.0	85.0					3																	121825137		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.493G>A	3.37:g.121825137G>A	ENSP00000332049:p.Glu165Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E165K	ENST00000330540.2	37	c.493	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.97|14.97	2.695317|2.695317	0.48202|0.48202	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T;T;T|.	0.12672|.	2.7;2.66;2.7;3.63;2.7|.	5.43|5.43	-3.26|-3.26	0.05064|0.05064	.|.	0.761122|.	0.11965|.	N|.	0.512336|.	T|T	0.49338|0.49338	0.1551|0.1551	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999996|0.999996	B;P|.	0.39903|.	0.08;0.694|.	B;P|.	0.45610|.	0.084;0.487|.	T|T	0.44952|0.44952	-0.9294|-0.9294	10|5	0.25751|.	T|.	0.34|.	-1.9479|-1.9479	5.6999|5.6999	0.17877|0.17877	0.3747:0.3423:0.283:0.0|0.3747:0.3423:0.283:0.0	.|.	53;165|.	E9PC27;P42081|.	.;CD86_HUMAN|.	K|K	83;53;165;159;159|160	ENSP00000418988:E83K;ENSP00000420230:E53K;ENSP00000332049:E165K;ENSP00000419116:E159K;ENSP00000377248:E159K|.	ENSP00000332049:E165K|.	E|R	+|+	1|2	0|0	CD86|CD86	123307827|123307827	0.851000|0.851000	0.29673|0.29673	0.859000|0.859000	0.33776|0.33776	0.778000|0.778000	0.44026|0.44026	-0.138000|-0.138000	0.10374|0.10374	-0.499000|-0.499000	0.06623|0.06623	-0.140000|-0.140000	0.14226|0.14226	GAA|AGA	CD86	-	NULL	ENSG00000114013		0.358	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	HGNC	protein_coding	OTTHUMT00000355671.1	146	0.00	0	G	NM_006889		121825137	121825137	+1	no_errors	ENST00000330540	ensembl	human	known	69_37n	missense	84	11.58	11	SNP	0.832	A
CDC14A	8556	genome.wustl.edu	37	1	100928262	100928262	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:100928262G>A	ENST00000336454.3	+	9	1018	c.663G>A	c.(661-663)gtG>gtA	p.V221V	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000542213.1_Silent_p.V163V|CDC14A_ENST00000544534.1_Silent_p.V221V|CDC14A_ENST00000370124.3_Silent_p.V221V|CDC14A_ENST00000370125.2_Silent_p.*192*|CDC14A_ENST00000361544.6_Silent_p.V221V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	221	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCATAATGTGACTGCAGTTG	0.438																																						dbGAP											0													90.0	83.0	85.0					1																	100928262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.663G>A	1.37:g.100928262G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.V221	ENST00000336454.3	37	c.663	CCDS769.1	1																																																																																			CDC14A	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat	ENSG00000079335		0.438	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	160	0.00	0	G	NM_033312		100928262	100928262	+1	no_errors	ENST00000361544	ensembl	human	known	69_37n	silent	82	13.54	13	SNP	1.000	A
CDC42BPA	8476	genome.wustl.edu	37	1	227219069	227219069	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:227219069G>C	ENST00000366769.3	-	27	4891	c.3600C>G	c.(3598-3600)gtC>gtG	p.V1200V	CDC42BPA_ENST00000535525.1_Silent_p.V1180V|CDC42BPA_ENST00000366766.2_Silent_p.V1235V|CDC42BPA_ENST00000334218.5_Silent_p.V1200V|CDC42BPA_ENST00000366764.2_Silent_p.V1172V|CDC42BPA_ENST00000366767.3_Silent_p.V1119V|CDC42BPA_ENST00000366765.3_Silent_p.V1213V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGGGAACATAGACTGAGCGGT	0.398																																						dbGAP											0													159.0	159.0	159.0					1																	227219069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3600C>G	1.37:g.227219069G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_WD40_repeat_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L529V	ENST00000366769.3	37	c.1585	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154922	0.21371	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	.	.	.	5.71	2.6	0.31112	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70795	-0.4775	4	.	.	.	.	16.4404	0.83898	0.0:0.3823:0.6177:0.0	.	.	.	.	V	403;529;98;425	.	.	L	-	1	2	CDC42BPA	225285692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.175000	0.42491	0.728000	0.32382	0.655000	0.94253	CTA	CDC42BPA	-	NULL	ENSG00000143776		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	304	0.00	0	G	NM_014826		227219069	227219069	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442054	ensembl	human	known	69_37n	missense	175	10.71	21	SNP	1.000	C
CDC6	990	genome.wustl.edu	37	17	38457243	38457243	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:38457243G>A	ENST00000209728.4	+	10	1884	c.1413G>A	c.(1411-1413)ttG>ttA	p.L471L	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	471					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGATGCTCTTGATCAGGCAGT	0.473																																						dbGAP											0													169.0	142.0	151.0					17																	38457243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1413G>A	17.37:g.38457243G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB30	Silent	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6	p.L471	ENST00000209728.4	37	c.1413	CCDS11365.1	17																																																																																			CDC6	-	pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6	ENSG00000094804		0.473	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	131	0.00	0	G			38457243	38457243	+1	no_errors	ENST00000209728	ensembl	human	known	69_37n	silent	58	18.31	13	SNP	0.998	A
CEACAM21	90273	genome.wustl.edu	37	19	42083792	42083792	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:42083792C>G	ENST00000401445.2	+	2	331	c.305C>G	c.(304-306)tCa>tGa	p.S102*	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Nonsense_Mutation_p.S102*|CEACAM21_ENST00000407170.2_5'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	102						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGACAATATCACCCAGTGGA	0.488																																						dbGAP											0													110.0	113.0	112.0					19																	42083792		2188	4294	6482	-	-	-	SO:0001587	stop_gained	0			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.305C>G	19.37:g.42083792C>G	ENSP00000385739:p.Ser102*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNQ6|O75296|Q6UY47|Q96ER7	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S102*	ENST00000401445.2	37	c.305	CCDS46086.1	19	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235773	0.39498	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	.	.	.	1.84	-0.877	0.10621	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.5078	0.04649	0.4563:0.2783:0.0:0.2654	.	.	.	.	X	102	.	ENSP00000187608:S102X	S	+	2	0	CEACAM21	46775632	0.000000	0.05858	0.002000	0.10522	0.541000	0.35023	-0.994000	0.03716	-0.270000	0.09285	0.123000	0.15791	TCA	CEACAM21	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000007129		0.488	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	CEACAM21	HGNC	protein_coding	OTTHUMT00000321140.1	133	0.00	0	C	NM_033543		42083792	42083792	+1	no_errors	ENST00000401445	ensembl	human	known	69_37n	nonsense	83	10.75	10	SNP	0.003	G
CELF2	10659	genome.wustl.edu	37	10	11207576	11207576	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:11207576G>C	ENST00000379261.4	+	2	273	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CELF2_ENST00000417956.2_Missense_Mutation_p.E37Q|CELF2_ENST00000354440.2_Missense_Mutation_p.E37Q|CELF2_ENST00000609692.1_Missense_Mutation_p.E37Q|CELF2_ENST00000315874.4_Missense_Mutation_p.E37Q|CELF2_ENST00000450189.1_Missense_Mutation_p.E68Q|CELF2_ENST00000542579.1_Missense_Mutation_p.E68Q|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000427450.1_Missense_Mutation_p.E37Q|CELF2_ENST00000354897.3_Missense_Mutation_p.E37Q|CELF2_ENST00000399850.3_Missense_Mutation_p.E37Q|CELF2_ENST00000608830.1_Missense_Mutation_p.E37Q|CELF2_ENST00000416382.2_Missense_Mutation_p.E61Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	61	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGAACTTTTTGAGCCTTACGG	0.572																																						dbGAP											0													69.0	73.0	72.0					10																	11207576		1933	4150	6083	-	-	-	SO:0001583	missense	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.181G>C	10.37:g.11207576G>C	ENSP00000368563:p.Glu61Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.E68Q	ENST00000379261.4	37	c.202	CCDS44354.1	10	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728158	0.89390	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450	T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.998;0.986;0.99;0.995;0.996;0.998	T	0.06127	-1.0844	10	0.87932	D	0	-15.9863	19.807	0.96535	0.0:0.0:1.0:0.0	.	45;61;37;56;68;56;61	B4DDE7;B4DS31;B4DSZ2;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	Q	61;61;68;68;37;37;37;37;37;37	ENSP00000368563:E61Q;ENSP00000406451:E61Q;ENSP00000389951:E68Q;ENSP00000443926:E68Q;ENSP00000382743:E37Q;ENSP00000404834:E37Q;ENSP00000315328:E37Q;ENSP00000346426:E37Q;ENSP00000388530:E37Q	ENSP00000315328:E37Q	E	+	1	0	CELF2	11247582	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.658000	0.98594	2.759000	0.94783	0.563000	0.77884	GAG	CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000048740		0.572	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		76	0.00	0	G			11207576	11207576	+1	no_errors	ENST00000450189	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	1.000	C
CELSR1	9620	genome.wustl.edu	37	22	46859955	46859955	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:46859955C>G	ENST00000262738.3	-	2	3831	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1278Q	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1278					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCAGGTCCTCCGACGGGAAG	0.637																																						dbGAP											0													72.0	68.0	69.0					22																	46859955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3832G>C	22.37:g.46859955C>G	ENSP00000262738:p.Glu1278Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,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.E1278Q	ENST00000262738.3	37	c.3832	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471428	0.63737	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.70399	-0.48;-0.2	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000002	T	0.72220	0.3433	L	0.35854	1.095	0.45962	D	0.998785	D	0.56035	0.974	P	0.55615	0.78	T	0.67241	-0.5720	10	0.16896	T	0.51	.	17.9104	0.88932	0.0:1.0:0.0:0.0	.	1278	Q9NYQ6	CELR1_HUMAN	Q	1278	ENSP00000262738:E1278Q;ENSP00000379293:E1278Q	ENSP00000262738:E1278Q	E	-	1	0	CELSR1	45238619	1.000000	0.71417	0.954000	0.39281	0.868000	0.49771	7.170000	0.77587	2.320000	0.78422	0.655000	0.94253	GAG	CELSR1	-	NULL	ENSG00000075275		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	62	0.00	0	C	NM_014246		46859955	46859955	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	G
CENPI	2491	genome.wustl.edu	37	X	100382503	100382503	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:100382503C>T	ENST00000372927.1	+	10	1200	c.923C>T	c.(922-924)tCa>tTa	p.S308L	CENPI_ENST00000218507.5_Missense_Mutation_p.S308L|CENPI_ENST00000423383.1_Missense_Mutation_p.S308L|CENPI_ENST00000372926.1_Missense_Mutation_p.S308L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	308					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AATTCTCTCTCAGTTATACCA	0.338																																						dbGAP											0													59.0	56.0	57.0					X																	100382503		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.923C>T	X.37:g.100382503C>T	ENSP00000362018:p.Ser308Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.S308L	ENST00000372927.1	37	c.923	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	c	2.093	-0.408027	0.04832	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.27	3.38	0.38709	.	0.423279	0.25445	N	0.030636	T	0.23649	0.0572	L	0.31120	0.905	0.26292	N	0.97812	B;B	0.14438	0.01;0.01	B;B	0.15052	0.012;0.012	T	0.04294	-1.0962	9	0.23302	T	0.38	-8.9297	2.4972	0.04624	0.0:0.4283:0.2711:0.3006	.	308;308	B4DZL4;Q92674	.;CENPI_HUMAN	L	308	.	ENSP00000218507:S308L	S	+	2	0	CENPI	100269159	0.785000	0.28726	0.948000	0.38648	0.127000	0.20565	2.174000	0.42482	2.334000	0.79466	0.506000	0.49869	TCA	CENPI	-	pfam_Centromere_CenpI	ENSG00000102384		0.338	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	138	0.00	0	C	NM_006733		100382503	100382503	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	0.576	T
CENPI	2491	genome.wustl.edu	37	X	100403010	100403010	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:100403010T>C	ENST00000372927.1	+	19	2231	c.1954T>C	c.(1954-1956)Tgg>Cgg	p.W652R	CENPI_ENST00000218507.5_Missense_Mutation_p.W652R|CENPI_ENST00000423383.1_Missense_Mutation_p.W652R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	652					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGGTTGCCTGTGGACGTCCAA	0.343																																						dbGAP											0													132.0	132.0	132.0					X																	100403010		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1954T>C	X.37:g.100403010T>C	ENSP00000362018:p.Trp652Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.W652R	ENST00000372927.1	37	c.1954	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835981	0.50951	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.68952	2.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80148	-0.1503	9	0.87932	D	0	-6.005	14.7212	0.69308	0.0:0.0:0.0:1.0	.	652;652	B4DZL4;Q92674	.;CENPI_HUMAN	R	652	.	ENSP00000218507:W652R	W	+	1	0	CENPI	100289666	1.000000	0.71417	0.993000	0.49108	0.368000	0.29767	5.833000	0.69349	1.858000	0.53909	0.345000	0.21793	TGG	CENPI	-	NULL	ENSG00000102384		0.343	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	293	0.00	0	T	NM_006733		100403010	100403010	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	missense	134	15.19	24	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	179989993	179989993	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:179989993C>G	ENST00000367607.3	+	12	3502	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1028					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAACCCATCAAAGAGTTTC	0.403																																						dbGAP											0													28.0	32.0	30.0					1																	179989993		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3084C>G	1.37:g.179989993C>G	ENSP00000356579:p.Ile1028Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.I1028M	ENST00000367607.3	37	c.3084	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480491	0.26598	.	.	ENSG00000135837	ENST00000367607	T	0.14391	2.51	5.9	5.0	0.66597	.	0.000000	0.47455	D	0.000239	T	0.21022	0.0506	L	0.34521	1.04	0.45005	D	0.998026	P;D	0.71674	0.883;0.998	P;D	0.72625	0.467;0.978	T	0.04976	-1.0914	9	.	.	.	.	5.8903	0.18909	0.194:0.6532:0.0:0.1528	.	1028;1028	E7EU22;Q5VT06	.;CE350_HUMAN	M	1028	ENSP00000356579:I1028M	.	I	+	3	3	CEP350	178256616	0.998000	0.40836	1.000000	0.80357	0.388000	0.30384	0.594000	0.24014	1.519000	0.48950	-0.136000	0.14681	ATC	CEP350	-	NULL	ENSG00000135837		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	33	0.00	0	C	NM_014810		179989993	179989993	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	G
CHD5	26038	genome.wustl.edu	37	1	6172237	6172237	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:6172237G>C	ENST00000262450.3	-	35	5202	c.5103C>G	c.(5101-5103)ttC>ttG	p.F1701L	CHD5_ENST00000378021.1_Missense_Mutation_p.F558L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATGAACTTGAATTTCCCCT	0.537																																						dbGAP											0													253.0	194.0	214.0					1																	6172237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5103C>G	1.37:g.6172237G>C	ENSP00000262450:p.Phe1701Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F1701L	ENST00000262450.3	37	c.5103	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	g	9.664	1.145013	0.21288	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.90069	-2.61;2.34	4.16	3.21	0.36854	.	0.349704	0.26836	N	0.022252	T	0.76615	0.4012	N	0.14661	0.345	0.30457	N	0.774713	B;B	0.22003	0.063;0.0	B;B	0.16722	0.016;0.0	T	0.69217	-0.5203	10	0.23891	T	0.37	-21.5261	9.2564	0.37586	0.2389:0.0:0.7611:0.0	.	1701;558	Q8TDI0;Q5TG85	CHD5_HUMAN;.	L	1701;558;558	ENSP00000262450:F1701L;ENSP00000367260:F558L	ENSP00000262450:F1701L	F	-	3	2	CHD5	6094824	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	1.249000	0.32839	2.025000	0.59659	0.591000	0.81541	TTC	CHD5	-	NULL	ENSG00000116254		0.537	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	272	0.00	0	G	NM_015557		6172237	6172237	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	missense	138	29.23	57	SNP	0.983	C
CFHR2	3080	genome.wustl.edu	37	1	196920050	196920050	+	Missense_Mutation	SNP	G	G	A	rs566072611		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:196920050G>A	ENST00000367415.5	+	3	422	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CFHR2_ENST00000367421.3_Missense_Mutation_p.D108N|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.D92N	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	108	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCTGGAAGGTGATACTGTACA	0.388													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15565	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													174.0	153.0	160.0					1																	196920050		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.322G>A	1.37:g.196920050G>A	ENSP00000356385:p.Asp108Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D108N	ENST00000367415.5	37	c.322	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	.	15.29	2.789926	0.50102	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.66280	-0.2;-0.2	2.77	2.77	0.32553	Complement control module (2);Sushi/SCR/CCP (3);	0.471757	0.15596	N	0.254173	T	0.70605	0.3243	L	0.51914	1.62	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.56866	-0.7908	10	0.51188	T	0.08	.	9.0616	0.36438	0.0:0.0:1.0:0.0	.	108	P36980	FHR2_HUMAN	N	108	ENSP00000356391:D108N;ENSP00000356385:D108N	ENSP00000356385:D108N	D	+	1	0	CFHR2	195186673	0.013000	0.17824	0.088000	0.20740	0.003000	0.03518	0.463000	0.21972	1.517000	0.48917	0.430000	0.28490	GAT	CFHR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000080910		0.388	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	HGNC	protein_coding	OTTHUMT00000088815.2	444	0.00	0	G	NM_005666		196920050	196920050	+1	no_errors	ENST00000367415	ensembl	human	known	69_37n	missense	245	11.87	33	SNP	0.485	A
CHD8	57680	genome.wustl.edu	37	14	21876692	21876692	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:21876692C>T	ENST00000557364.1	-	13	2772	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	CHD8_ENST00000399982.2_Missense_Mutation_p.E837K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E558K			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	837	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCCCATCTCATCAGCCAGG	0.408																																						dbGAP											0													57.0	53.0	54.0					14																	21876692		1907	4122	6029	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2509G>A	14.37:g.21876692C>T	ENSP00000451601:p.Glu837Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.E837K	ENST00000557364.1	37	c.2509	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.469899	0.96274	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.95690	-3.78;-3.78;-3.78	5.5	5.5	0.81552	.	0.053914	0.64402	D	0.000001	D	0.98689	0.9560	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99376	1.0921	10	0.87932	D	0	-25.2652	18.3222	0.90242	0.0:1.0:0.0:0.0	.	558	Q9HCK8-2	.	K	558;837;557;837	ENSP00000406288:E558K;ENSP00000382863:E837K;ENSP00000451601:E837K	ENSP00000262707:E557K	E	-	1	0	CHD8	20946532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.850000	0.98022	0.650000	0.86243	GAG	CHD8	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000100888		0.408	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	97	0.00	0	C	NM_020920		21876692	21876692	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	57	12.31	8	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53348816	53348816	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:53348816G>C	ENST00000398510.3	+	35	7531	c.7444G>C	c.(7444-7446)Gat>Cat	p.D2482H	CHD9_ENST00000447540.1_Missense_Mutation_p.D2467H|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466H|CHD9_ENST00000566029.1_Missense_Mutation_p.D2466H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2482					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGGAATTCCTGATACAGAAAG	0.388																																						dbGAP											0													113.0	106.0	108.0					16																	53348816		1822	4087	5909	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7444G>C	16.37:g.53348816G>C	ENSP00000381522:p.Asp2482His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.D2482H	ENST00000398510.3	37	c.7444		16	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092360	0.76756	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T	0.45276	0.9	5.82	5.82	0.92795	BRK domain (2);	0.000000	0.64402	D	0.000010	T	0.62417	0.2426	L	0.50333	1.59	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.964;0.999;0.999	T	0.61912	-0.6965	10	0.72032	D	0.01	-21.418	20.099	0.97865	0.0:0.0:1.0:0.0	.	548;2467;2482;2466	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	2467;2466;548	ENSP00000396345:D2467H	ENSP00000381522:D2466H	D	+	1	0	CHD9	51906317	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.414000	0.97362	2.752000	0.94435	0.655000	0.94253	GAT	CHD9	-	pfam_BRK_domain,smart_BRK_domain	ENSG00000177200		0.388	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	179	0.00	0	G	NM_025134		53348816	53348816	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	0.999	C
CHI3L1	1116	genome.wustl.edu	37	1	203154338	203154338	+	Silent	SNP	G	G	A	rs576791597		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:203154338G>A	ENST00000255409.3	-	3	356	c.231C>T	c.(229-231)taC>taT	p.Y77Y		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	77					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGAGCATGCCGTAGAGCGTCA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													140.0	131.0	134.0					1																	203154338		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.231C>T	1.37:g.203154338G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.Y77	ENST00000255409.3	37	c.231	CCDS1435.1	1																																																																																			CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.582	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	98	0.00	0	G	NM_001276		203154338	203154338	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	silent	79	20.20	20	SNP	0.027	A
CIB2	10518	genome.wustl.edu	37	15	78401629	78401629	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:78401629G>A	ENST00000258930.3	-	4	622	c.294C>T	c.(292-294)ctC>ctT	p.L98L	CIB2_ENST00000539011.1_Silent_p.L55L|CIB2_ENST00000560618.1_Silent_p.L55L|CIB2_ENST00000557846.1_Silent_p.L49L	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCGACTCGCAGAGCACGGAAA	0.537																																						dbGAP											0													104.0	89.0	94.0					15																	78401629		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.294C>T	15.37:g.78401629G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	NULL	p.S61F	ENST00000258930.3	37	c.182	CCDS10296.1	15																																																																																			CIB2	-	NULL	ENSG00000136425		0.537	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	237	0.00	0	G	NM_006383		78401629	78401629	-1	no_errors	ENST00000557917	ensembl	human	known	69_37n	missense	91	15.74	17	SNP	1.000	A
CIITA	4261	genome.wustl.edu	37	16	11000484	11000484	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:11000484G>A	ENST00000324288.8	+	11	1268	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	379					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CAAGAGCCTGGAGCGGGAACT	0.687			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													28.0	31.0	30.0					16																	11000484		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1135G>A	16.37:g.11000484G>A	ENSP00000316328:p.Glu379Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.E379K	ENST00000324288.8	37	c.1135	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556804	0.65425	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.74632	-0.86	5.03	5.03	0.67393	.	0.252568	0.27591	N	0.018689	D	0.83653	0.5301	M	0.66939	2.045	0.80722	D	1	D;D;D;P	0.69078	0.991;0.991;0.997;0.9	P;P;D;B	0.64687	0.906;0.906;0.928;0.416	D	0.84974	0.0884	10	0.56958	D	0.05	.	15.839	0.78831	0.0:0.0:1.0:0.0	.	379;379;331;379	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	K	379;331	ENSP00000316328:E379K	ENSP00000316328:E379K	E	+	1	0	CIITA	10907985	1.000000	0.71417	0.999000	0.59377	0.059000	0.15707	6.109000	0.71528	2.325000	0.78763	0.561000	0.74099	GAG	CIITA	-	NULL	ENSG00000179583		0.687	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	31	0.00	0	G	NM_000246		11000484	11000484	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.999	A
CLCNKA	1187	genome.wustl.edu	37	1	16355791	16355791	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:16355791G>C	ENST00000331433.4	+	12	1243	c.1224G>C	c.(1222-1224)atG>atC	p.M408I	CLCNKA_ENST00000439316.2_Missense_Mutation_p.M365I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M408I|CLCNKA_ENST00000375692.1_Missense_Mutation_p.M408I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	408					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCTGGTTATGAAGGTGGGCC	0.672																																						dbGAP											0													64.0	66.0	65.0					1																	16355791		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1224G>C	1.37:g.16355791G>C	ENSP00000332771:p.Met408Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.M408I	ENST00000331433.4	37	c.1224	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642142	0.67244	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	3.2	3.2	0.36748	Chloride channel, core (2);	0.127918	0.64402	D	0.000001	D	0.90480	0.7018	L	0.38733	1.17	0.54753	D	0.999985	P;P;P	0.42123	0.771;0.771;0.771	P;P;P	0.45276	0.475;0.475;0.475	D	0.91130	0.4937	10	0.72032	D	0.01	.	12.0037	0.53246	0.0:0.0:1.0:0.0	.	365;408;408	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	I	408;408;365;408	ENSP00000364844:M408I;ENSP00000410353:M408I;ENSP00000414445:M365I;ENSP00000332771:M408I	ENSP00000332771:M408I	M	+	3	0	CLCNKA	16228378	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	6.784000	0.75084	1.786000	0.52430	0.313000	0.20887	ATG	CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000186510		0.672	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	162	0.00	0	G			16355791	16355791	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	missense	79	28.18	31	SNP	1.000	C
CLCNKA	1187	genome.wustl.edu	37	1	16356261	16356261	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:16356261G>C	ENST00000331433.4	+	13	1282	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	CLCNKA_ENST00000439316.2_Missense_Mutation_p.M378I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M421I|CLCNKA_ENST00000375692.1_Missense_Mutation_p.M421I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	421					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCCCCATGCCTGCCGGGT	0.582																																						dbGAP											0													221.0	190.0	200.0					1																	16356261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1263G>C	1.37:g.16356261G>C	ENSP00000332771:p.Met421Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.M421I	ENST00000331433.4	37	c.1263	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	g	2.855	-0.237426	0.05944	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	3.45	-2.38	0.06622	Chloride channel, core (2);	0.215770	0.48286	N	0.000189	T	0.78207	0.4247	N	0.01809	-0.71	0.36455	D	0.866345	B;B;B;B	0.16166	0.016;0.0;0.0;0.0	B;B;B;B	0.28139	0.086;0.002;0.003;0.002	T	0.60821	-0.7187	10	0.17369	T	0.5	.	8.3315	0.32189	0.1523:0.5696:0.2781:0.0	.	157;378;421;421	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	I	421;421;378;421	ENSP00000364844:M421I;ENSP00000410353:M421I;ENSP00000414445:M378I;ENSP00000332771:M421I	ENSP00000332771:M421I	M	+	3	0	CLCNKA	16228848	0.001000	0.12720	0.274000	0.24659	0.871000	0.50021	-1.730000	0.01855	-0.649000	0.05430	-0.666000	0.03841	ATG	CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000186510		0.582	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	592	0.00	0	G			16356261	16356261	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	missense	289	28.40	115	SNP	0.550	C
CLDND1	56650	genome.wustl.edu	37	3	98237836	98237836	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:98237836G>A	ENST00000503004.1	-	3	1175	c.296C>T	c.(295-297)tCa>tTa	p.S99L	CLDND1_ENST00000510545.1_Missense_Mutation_p.S99L|CLDND1_ENST00000341181.6_Missense_Mutation_p.S99L|CLDND1_ENST00000507874.1_Missense_Mutation_p.S99L|CLDND1_ENST00000394181.2_Missense_Mutation_p.S99L|CLDND1_ENST00000394180.2_Missense_Mutation_p.S99L|CLDND1_ENST00000513287.1_Missense_Mutation_p.S99L|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Missense_Mutation_p.S4L|CLDND1_ENST00000437922.1_Missense_Mutation_p.S122L|CLDND1_ENST00000394185.2_Missense_Mutation_p.S99L|CLDND1_ENST00000511081.1_Missense_Mutation_p.S4L			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	99						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CACATCAAATGACTCTGGAAC	0.343																																						dbGAP											0													78.0	74.0	75.0					3																	98237836		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.296C>T	3.37:g.98237836G>A	ENSP00000421226:p.Ser99Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.S122L	ENST00000503004.1	37	c.365	CCDS2930.1	3	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053681	0.55218	.	.	ENSG00000080822	ENST00000502288;ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.9;1.88;1.9;1.9;1.9;1.9;1.9;1.41;1.9;1.47;1.9;1.9;1.9;1.48	5.5	4.63	0.57726	.	0.273612	0.33110	N	0.005267	T	0.23572	0.0570	L	0.43152	1.355	0.36509	D	0.869451	P;B;P;B	0.37914	0.611;0.0;0.458;0.004	B;B;B;B	0.31751	0.135;0.0;0.135;0.004	T	0.23261	-1.0193	10	0.45353	T	0.12	-5.6117	10.4791	0.44682	0.0893:0.0:0.9107:0.0	.	99;4;99;99	D6RCR8;F2Z2D9;Q9NY35;Q9NY35-2	.;.;CLDN1_HUMAN;.	L	4;99;99;122;99;52;99;99;99;99;4;99;77;99;99;99;99;99;99;99;77;99	ENSP00000340247:S99L;ENSP00000388457:S122L;ENSP00000377734:S99L;ENSP00000421226:S99L;ENSP00000377739:S99L;ENSP00000377735:S99L;ENSP00000423590:S99L;ENSP00000424669:S4L;ENSP00000426869:S99L;ENSP00000423732:S77L;ENSP00000425539:S99L;ENSP00000420913:S99L;ENSP00000421413:S99L;ENSP00000423151:S99L	ENSP00000340247:S99L	S	-	2	0	CLDND1	99720526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.140000	0.58031	1.323000	0.45263	0.563000	0.77884	TCA	CLDND1	-	NULL	ENSG00000080822		0.343	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND1	HGNC	protein_coding	OTTHUMT00000359071.1	147	0.00	0	G	NM_019895		98237836	98237836	-1	no_errors	ENST00000437922	ensembl	human	known	69_37n	missense	71	15.48	13	SNP	1.000	A
CLIC2	1193	genome.wustl.edu	37	X	154528132	154528132	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:154528132C>G	ENST00000369449.2	-	3	477	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	87	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAAAACTCCTCAATTTTAATG	0.378																																					Melanoma(108;581 1592 2289 21669 28822)	dbGAP											0													94.0	90.0	91.0					X																	154528132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.259G>C	X.37:g.154528132C>G	ENSP00000358460:p.Glu87Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.E87Q	ENST00000369449.2	37	c.259	CCDS14767.1	X	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498138	0.85069	.	.	ENSG00000155962	ENST00000369449	T	0.25250	1.81	5.06	5.06	0.68205	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.67550	-0.5642	10	0.62326	D	0.03	-16.7835	15.1839	0.72982	0.0:1.0:0.0:0.0	.	105;87	Q86YM0;O15247	.;CLIC2_HUMAN	Q	87	ENSP00000358460:E87Q	ENSP00000358460:E87Q	E	-	1	0	CLIC2	154181326	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.157000	0.77461	2.262000	0.75019	0.415000	0.27848	GAG	CLIC2	-	superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	ENSG00000155962		0.378	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC2	HGNC	protein_coding	OTTHUMT00000058793.1	312	0.00	0	C	NM_001289		154528132	154528132	-1	no_errors	ENST00000369449	ensembl	human	known	69_37n	missense	144	13.77	23	SNP	1.000	G
CLIC5	53405	genome.wustl.edu	37	6	45917119	45917119	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:45917119C>T	ENST00000185206.6	-	3	803		c.e3-1		CLIC5_ENST00000544153.1_Splice_Site|CLIC5_ENST00000339561.6_Splice_Site	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGCTGGCTTTCTGTAGAGAGA	0.527																																						dbGAP											0													140.0	130.0	133.0					6																	45917119		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.651-1G>A	6.37:g.45917119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Splice_Site	SNP	-	e3-1	ENST00000185206.6	37	c.651-1	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591459	0.86851	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0403	0.92995	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIC5	46025097	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.537000	0.82033	2.854000	0.98071	0.655000	0.94253	.	CLIC5	-	-	ENSG00000112782		0.527	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	286	0.00	0	C		Intron	45917119	45917119	-1	no_errors	ENST00000185206	ensembl	human	known	69_37n	splice_site	162	17.77	35	SNP	1.000	T
CLIP1	6249	genome.wustl.edu	37	12	122817576	122817576	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:122817576G>A	ENST00000540338.1	-	14	2866	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	CLIP1_ENST00000545889.1_Missense_Mutation_p.S517F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S820F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S896F|CLIP1_ENST00000358808.2_Missense_Mutation_p.S931F|CLIP1_ENST00000302528.7_Missense_Mutation_p.S931F			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	942					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGTCAGCTGAGAAGAGTTATC	0.393																																						dbGAP											0													192.0	163.0	173.0					12																	122817576		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2825C>T	12.37:g.122817576G>A	ENSP00000439093:p.Ser942Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S942F	ENST00000540338.1	37	c.2825	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767849	0.69878	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.78816	2.63;-1.21;-1.21;0.64;0.64;0.04	5.62	4.74	0.60224	.	0.137780	0.52532	D	0.000078	T	0.80737	0.4680	L	0.57536	1.79	0.32950	D	0.519547	P;P;P	0.43578	0.811;0.811;0.713	P;P;B	0.51135	0.66;0.578;0.374	D	0.86232	0.1638	10	0.66056	D	0.02	-2.8122	11.699	0.51560	0.142:0.0:0.858:0.0	.	896;931;942	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	F	517;931;931;661;896;942;789	ENSP00000438743:S517F;ENSP00000303585:S931F;ENSP00000351665:S931F;ENSP00000445531:S896F;ENSP00000439093:S942F;ENSP00000437786:S789F	ENSP00000303585:S931F	S	-	2	0	CLIP1	121383529	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.183000	0.58317	1.380000	0.46344	0.563000	0.77884	TCT	CLIP1	-	superfamily_Prefoldin	ENSG00000130779		0.393	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	588	0.00	0	G	NM_002956		122817576	122817576	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	278	21.69	77	SNP	1.000	A
CMTM5	116173	genome.wustl.edu	37	14	23847569	23847569	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:23847569C>T	ENST00000339180.4	+	2	354	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000359320.3_Silent_p.L46L|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Silent_p.L46L			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCTGACCCTCATCATCTTCA	0.597																																						dbGAP											0													171.0	125.0	141.0					14																	23847569		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.138C>T	14.37:g.23847569C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH91|Q5PY48	Silent	SNP	NULL	p.L46	ENST00000339180.4	37	c.138		14																																																																																			CMTM5	-	NULL	ENSG00000166091		0.597	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	282	0.00	0	C			23847569	23847569	+1	no_errors	ENST00000339180	ensembl	human	known	69_37n	silent	155	11.93	21	SNP	1.000	T
CMTM5	116173	genome.wustl.edu	37	14	23847601	23847601	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:23847601C>T	ENST00000339180.4	+	2	386	c.170C>T	c.(169-171)tCt>tTt	p.S57F	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.S57F|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.S57F			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	57	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCTCCATCTCTGCCTACATG	0.582																																						dbGAP											0													193.0	147.0	163.0					14																	23847601		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.170C>T	14.37:g.23847601C>T	ENSP00000344819:p.Ser57Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.S57F	ENST00000339180.4	37	c.170		14	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786059	0.90282	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180	T;T;T	0.53206	1.66;0.63;1.66	5.94	5.94	0.96194	Marvel (1);	0.000000	0.64402	D	0.000019	T	0.68668	0.3026	M	0.67397	2.05	0.47123	D	0.999323	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.988;0.974	T	0.69569	-0.5110	10	0.87932	D	0	-22.3786	17.8532	0.88754	0.0:1.0:0.0:0.0	.	57;57;57	Q96DZ9;E9PH91;Q96DZ9-2	CKLF5_HUMAN;.;.	F	57	ENSP00000352270:S57F;ENSP00000372259:S57F;ENSP00000344819:S57F	ENSP00000344819:S57F	S	+	2	0	CMTM5	22917441	0.992000	0.36948	0.998000	0.56505	0.983000	0.72400	3.276000	0.51646	2.816000	0.96949	0.563000	0.77884	TCT	CMTM5	-	NULL	ENSG00000166091		0.582	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	353	0.28	1	C			23847601	23847601	+1	no_errors	ENST00000339180	ensembl	human	known	69_37n	missense	232	10.77	28	SNP	1.000	T
CNOT1	23019	genome.wustl.edu	37	16	58555118	58555118	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:58555118C>G	ENST00000317147.5	-	48	7353	c.7021G>C	c.(7021-7023)Gaa>Caa	p.E2341Q	CNOT1_ENST00000245138.4_Missense_Mutation_p.E1192Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E2336Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2341					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTACAAATTCATGGTTCCAG	0.393																																						dbGAP											0													97.0	98.0	98.0					16																	58555118		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.7021G>C	16.37:g.58555118C>G	ENSP00000320949:p.Glu2341Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.E2341Q	ENST00000317147.5	37	c.7021	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929559	0.92389	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138	T	0.47177	0.85	5.91	5.91	0.95273	CCR4-Not complex component, Not1, C-terminal (1);	0.059562	0.64402	D	0.000003	T	0.61887	0.2383	M	0.72118	2.19	0.80722	D	1	P;P;P	0.40266	0.694;0.544;0.71	P;P;P	0.48488	0.46;0.529;0.579	T	0.61950	-0.6957	10	0.59425	D	0.04	-4.2516	19.2867	0.94077	0.0:1.0:0.0:0.0	.	1192;2341;2336	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Q	2341;1035;1192	ENSP00000320949:E2341Q	ENSP00000245138:E1192Q	E	-	1	0	CNOT1	57112619	1.000000	0.71417	0.540000	0.28089	0.994000	0.84299	7.629000	0.83207	2.793000	0.96121	0.655000	0.94253	GAA	CNOT1	-	pfam_CCR4-Not_Not1_C	ENSG00000125107		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	204	0.00	0	C	NM_016284		58555118	58555118	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	133	11.33	17	SNP	1.000	G
CNOT3	4849	genome.wustl.edu	37	19	54656363	54656363	+	Splice_Site	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:54656363G>A	ENST00000406403.1	+	14	3507	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q	CNOT3_ENST00000358389.3_Splice_Site_p.R454Q|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.R635Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	635	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGCGTATTCGGTGAGGGGCC	0.632																																						dbGAP											0													23.0	26.0	25.0					19																	54656363		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1904+1G>A	19.37:g.54656363G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.R635Q	ENST00000406403.1	37	c.1904	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813638	0.90790	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T;T	0.42513	0.97;0.97;0.97	4.5	3.46	0.39613	NOT2/NOT3/NOT5 (1);	0.061993	0.64402	D	0.000005	T	0.59729	0.2215	M	0.75615	2.305	0.80722	D	1	P;D;P	0.76494	0.809;0.999;0.809	B;D;B	0.71870	0.221;0.975;0.16	T	0.58352	-0.7651	10	0.30854	T	0.27	-22.7515	11.781	0.52016	0.0885:0.0:0.9115:0.0	.	635;454;635	B7Z6J7;O75175-3;O75175	.;.;CNOT3_HUMAN	Q	635;454;635	ENSP00000221232:R635Q;ENSP00000351159:R454Q;ENSP00000383954:R635Q	ENSP00000221232:R635Q	R	+	2	0	CNOT3	59348175	1.000000	0.71417	0.990000	0.47175	0.913000	0.54294	8.845000	0.92153	1.027000	0.39758	0.655000	0.94253	CGG	CNOT3	-	pfam_NOT,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	29	0.00	0	G	NM_014516	Missense_Mutation	54656363	54656363	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	missense	29	16.67	6	SNP	1.000	A
CNTN1	1272	genome.wustl.edu	37	12	41414189	41414189	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:41414189G>C	ENST00000551295.2	+	20	2587	c.2470G>C	c.(2470-2472)Gag>Cag	p.E824Q	CNTN1_ENST00000348761.2_Missense_Mutation_p.E813Q|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.E824Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	824	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> G (in dbSNP:rs11553341).		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATCATCTTCTGAGATATCTGT	0.284																																						dbGAP											0													52.0	57.0	55.0					12																	41414189		2203	4290	6493	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2470G>C	12.37:g.41414189G>C	ENSP00000447006:p.Glu824Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E824Q	ENST00000551295.2	37	c.2470	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908414	0.92107	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57107	0.42;0.42;0.42	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.159316	0.53938	D	0.000044	T	0.68787	0.3039	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.956;0.986	T	0.62277	-0.6888	10	0.33940	T	0.23	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	813;824	Q12860-2;Q12860	.;CNTN1_HUMAN	Q	824;824;813	ENSP00000447006:E824Q;ENSP00000325660:E824Q;ENSP00000261160:E813Q	ENSP00000325660:E824Q	E	+	1	0	CNTN1	39700456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.885000	0.99019	0.655000	0.94253	GAG	CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.284	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	129	0.00	0	G	NM_001843		41414189	41414189	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	58	12.12	8	SNP	1.000	C
CNTNAP3	79937	genome.wustl.edu	37	9	39103750	39103750	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:39103750C>G	ENST00000297668.6	-	16	2600	c.2527G>C	c.(2527-2529)Gag>Cag	p.E843Q	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.E755Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.E842Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	843	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCACGCAGCTCAATCCTGATG	0.433																																						dbGAP											0													44.0	48.0	47.0					9																	39103750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2527G>C	9.37:g.39103750C>G	ENSP00000297668:p.Glu843Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E843Q	ENST00000297668.6	37	c.2527	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204048	0.58234	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.80123	-1.34;-1.34;-1.34	3.23	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.88976	0.6584	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.90370	0.4380	9	0.66056	D	0.02	.	13.5692	0.61836	0.0:1.0:0.0:0.0	.	843;842;843	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	Q	843;842;755	ENSP00000297668:E843Q;ENSP00000366884:E842Q;ENSP00000350863:E755Q	ENSP00000297668:E843Q	E	-	1	0	CNTNAP3	39093750	0.998000	0.40836	0.638000	0.29380	0.427000	0.31564	3.887000	0.56197	1.806000	0.52798	0.485000	0.47835	GAG	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.433	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	136	0.00	0	C	NM_033655		39103750	39103750	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	91	13.33	14	SNP	0.998	G
CNTRL	11064	genome.wustl.edu	37	9	123875860	123875860	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:123875860G>C	ENST00000373855.1	+	10	1463	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	CNTRL_ENST00000373865.2_Missense_Mutation_p.E401D|CNTRL_ENST00000238341.5_Missense_Mutation_p.E401D			Q7Z7A1	CNTRL_HUMAN	centriolin	401					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTGCCACAGAGAGTTATATTA	0.388																																						dbGAP											0													101.0	99.0	99.0					9																	123875860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1203G>C	9.37:g.123875860G>C	ENSP00000362962:p.Glu401Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E401D	ENST00000373855.1	37	c.1203	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353783	0.41700	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.57907	0.37;0.37	6.16	0.357	0.16079	.	.	.	.	.	T	0.47021	0.1423	M	0.66939	2.045	0.31815	N	0.626738	B;B	0.18863	0.031;0.018	B;B	0.21708	0.036;0.016	T	0.51810	-0.8658	9	0.62326	D	0.03	.	5.7786	0.18294	0.4455:0.1348:0.4196:0.0	.	401;401	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	D	401	ENSP00000362962:E401D;ENSP00000238341:E401D	ENSP00000238341:E401D	E	+	3	2	CNTRL	122915681	0.998000	0.40836	0.999000	0.59377	0.672000	0.39443	0.390000	0.20768	0.126000	0.18424	-0.142000	0.14014	GAG	CNTRL	-	NULL	ENSG00000119397		0.388	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	100	0.00	0	G	NM_007018		123875860	123875860	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.997	C
CNTROB	116840	genome.wustl.edu	37	17	7851863	7851863	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:7851863C>G	ENST00000563694.1	+	17	3364	c.2439C>G	c.(2437-2439)ctC>ctG	p.L813L	CNTROB_ENST00000380262.3_Silent_p.L813L|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.L813L	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	813	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGTTGCGACTCTACCAGGCTC	0.582																																						dbGAP											0													125.0	118.0	120.0					17																	7851863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2439C>G	17.37:g.7851863C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	NULL	p.L813	ENST00000563694.1	37	c.2439	CCDS11126.1	17																																																																																			CNTROB	-	NULL	ENSG00000170037		0.582	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	286	0.00	0	C	NM_053051		7851863	7851863	+1	no_errors	ENST00000380262	ensembl	human	known	69_37n	silent	113	10.24	13	SNP	0.014	G
COG3	83548	genome.wustl.edu	37	13	46055380	46055380	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:46055380C>G	ENST00000349995.5	+	5	677	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	189					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ACTTGTTGATCTGGCTGAAAA	0.279																																					Ovarian(150;1048 1859 18083 21577 42700)	dbGAP											0													33.0	32.0	33.0					13																	46055380		2198	4286	6484	-	-	-	SO:0001583	missense	0			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.565C>G	13.37:g.46055380C>G	ENSP00000258654:p.Leu189Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	pfam_COG_su3,superfamily_Cullin_repeat-like_dom	p.L189V	ENST00000349995.5	37	c.565	CCDS9398.1	13	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461587	0.26248	.	.	ENSG00000136152	ENST00000349995	T	0.51574	0.7	5.44	3.61	0.41365	.	0.000000	0.64402	D	0.000001	T	0.35799	0.0944	L	0.55017	1.72	0.58432	D	0.999995	B;P;B	0.34934	0.014;0.476;0.175	B;B;B	0.29267	0.05;0.1;0.025	T	0.13229	-1.0517	10	0.26408	T	0.33	-8.9088	7.741	0.28841	0.0:0.7232:0.0:0.2768	.	26;189;189	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	V	189	ENSP00000258654:L189V	ENSP00000258654:L189V	L	+	1	2	COG3	44953381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.832000	0.27490	1.350000	0.45770	0.655000	0.94253	CTG	COG3	-	pfam_COG_su3	ENSG00000136152		0.279	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG3	HGNC	protein_coding	OTTHUMT00000044777.2	106	0.00	0	C			46055380	46055380	+1	no_errors	ENST00000349995	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	G
COL19A1	1310	genome.wustl.edu	37	6	70852698	70852698	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:70852698C>A	ENST00000322773.4	+	23	1714	c.1612C>A	c.(1612-1614)Ccg>Acg	p.P538T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P160T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	538	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACCCAGAGGACCGCCAGGAGA	0.358																																						dbGAP											0													109.0	115.0	113.0					6																	70852698		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1612C>A	6.37:g.70852698C>A	ENSP00000316030:p.Pro538Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P538T	ENST00000322773.4	37	c.1612	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552359	0.27739	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.90900	-2.75;-2.75	5.48	5.48	0.80851	.	0.332562	0.28365	N	0.015602	D	0.86669	0.5988	M	0.77616	2.38	0.34766	D	0.733266	B	0.26512	0.151	B	0.32762	0.152	T	0.82918	-0.0219	10	0.18276	T	0.48	.	15.0991	0.72258	0.0:0.8595:0.1405:0.0	.	538	Q14993	COJA1_HUMAN	T	538;160	ENSP00000316030:P538T;ENSP00000377013:P160T	ENSP00000316030:P538T	P	+	1	0	COL19A1	70909419	0.991000	0.36638	1.000000	0.80357	0.390000	0.30446	3.117000	0.50407	2.723000	0.93209	0.585000	0.79938	CCG	COL19A1	-	NULL	ENSG00000082293		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	252	0.00	0	C			70852698	70852698	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	missense	128	12.16	18	SNP	1.000	A
MEST	4232	genome.wustl.edu	37	7	130146586	130146586	+	IGR	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:130146586C>G	ENST00000223215.4	+	0	2465				RP11-2E11.9_ENST00000604965.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CCTGCATGGTCACTCCATCGG	0.428																																					Colon(126;2182 2305 6517 35181)	dbGAP											0													109.0	105.0	106.0					7																	130146586		1915	4119	6034	-	-	-	SO:0001628	intergenic_variant	0				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661		7.37:g.130146586C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S1|O14973|O15007|Q6AI49|Q92571	Nonstop_Mutation	SNP	pfam_Coatomer_gsu_app,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like	p.*133S	ENST00000223215.4	37	c.398	CCDS5822.1	7	.	.	.	.	.	.	.	.	.	.	C	6.870	0.529985	0.13127	.	.	ENSG00000158623	ENST00000425248	.	.	.	6.08	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6683	0.17707	0.1183:0.5526:0.0:0.3291	.	.	.	.	S	133	.	.	X	-	2	2	COPG2	129933822	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.686000	0.25392	0.155000	0.19261	0.655000	0.94253	TGA	COPG2	-	pfam_Coatomer_gsu_app,superfamily_Coatomer/calthrin_app_sub_C	ENSG00000158623		0.428	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG2	HGNC	protein_coding	OTTHUMT00000345183.2	197	0.00	0	C	NM_002402		130146586	130146586	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000425248	ensembl	human	known	69_37n	nonstop	125	17.76	27	SNP	0.995	G
CORIN	10699	genome.wustl.edu	37	4	47676480	47676480	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:47676480G>C	ENST00000273857.4	-	10	1286	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	CORIN_ENST00000504584.1_Silent_p.L392L|CORIN_ENST00000502252.1_Silent_p.L362L|CORIN_ENST00000505909.1_Silent_p.L392L|CORIN_ENST00000508498.1_Silent_p.L290L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	429					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGGATTGTAGAGGCATCTTT	0.433																																						dbGAP											0													231.0	206.0	215.0					4																	47676480		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1287C>G	4.37:g.47676480G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L429	ENST00000273857.4	37	c.1287	CCDS3477.1	4																																																																																			CORIN	-	pirsf_Peptidase_S1A_corin	ENSG00000145244		0.433	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	329	0.00	0	G			47676480	47676480	-1	no_errors	ENST00000273857	ensembl	human	known	69_37n	silent	190	13.96	31	SNP	0.971	C
COX17	10063	genome.wustl.edu	37	3	119396138	119396138	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:119396138G>C	ENST00000261070.2	-	1	112	c.20C>G	c.(19-21)tCa>tGa	p.S7*	COX17_ENST00000484810.1_Nonsense_Mutation_p.S7*|COX17_ENST00000497116.1_Nonsense_Mutation_p.S7*	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	7	Ala/Pro-rich.				brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		GGCAGGGTTTGAGTCAACCAG	0.617																																						dbGAP											0													15.0	17.0	16.0					3																	119396138		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"""Mitochondrial respiratory chain complex assembly factors"""	2264	protein-coding gene	gene with protein product		604813	"""COX17 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX17 homolog, cytochrome c oxidase assembly protein (yeast)"", ""COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)"", ""COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 17 (yeast)"""			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.20C>G	3.37:g.119396138G>C	ENSP00000261070:p.Ser7*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5D2|D3DN84|Q3MHD6	Nonsense_Mutation	SNP	pfam_Cyt_c_oxidase_Cu-chaperone,superfamily_MTCP1	p.S7*	ENST00000261070.2	37	c.20	CCDS2993.1	3	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575145	0.86542	.	.	ENSG00000138495	ENST00000261070;ENST00000484810;ENST00000497116	.	.	.	4.98	3.18	0.36537	.	0.173042	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-4.5383	4.0144	0.09637	0.0869:0.1606:0.5864:0.1661	.	.	.	.	X	7	.	ENSP00000261070:S7X	S	-	2	0	COX17	120878828	0.992000	0.36948	0.749000	0.31150	0.112000	0.19704	1.808000	0.38912	0.806000	0.34183	0.455000	0.32223	TCA	COX17	-	superfamily_MTCP1	ENSG00000138495		0.617	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX17	HGNC	protein_coding	OTTHUMT00000355297.2	34	0.00	0	G	NM_005694		119396138	119396138	-1	no_errors	ENST00000261070	ensembl	human	known	69_37n	nonsense	32	13.51	5	SNP	0.640	C
COX7A2	1347	genome.wustl.edu	37	6	75947696	75947696	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:75947696A>G	ENST00000230459.4	-	4	395	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	COX7A2_ENST00000370089.2_Missense_Mutation_p.Y100H|COX7A2_ENST00000472311.2_Silent_p.H39H|COX7A2_ENST00000460985.1_Missense_Mutation_p.Y38H|COX7A2_ENST00000370081.2_Missense_Mutation_p.Y100H|COX7A2_ENST00000509698.1_Missense_Mutation_p.Y76H	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	68						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						TATATGGCATATGCTGTTCCT	0.353																																						dbGAP											0													43.0	41.0	42.0					6																	75947696		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.202T>C	6.37:g.75947696A>G	ENSP00000230459:p.Tyr68His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.Y100H	ENST00000230459.4	37	c.298		6	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312856	0.60414	.	.	ENSG00000112695	ENST00000370081;ENST00000230459;ENST00000370089;ENST00000509698;ENST00000460985	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.81	5.81	0.92471	.	0.114726	0.64402	D	0.000009	T	0.40791	0.1131	L	0.61387	1.9	0.51767	D	0.999933	B	0.34147	0.438	B	0.34452	0.183	T	0.49447	-0.8939	10	0.59425	D	0.04	-3.0552	15.1495	0.72687	1.0:0.0:0.0:0.0	.	68	P14406	CX7A2_HUMAN	H	100;68;100;76;38	ENSP00000359098:Y100H;ENSP00000230459:Y68H;ENSP00000359106:Y100H;ENSP00000425951:Y76H;ENSP00000422979:Y38H	ENSP00000230459:Y68H	Y	-	1	0	COX7A2	76004416	1.000000	0.71417	0.997000	0.53966	0.443000	0.32047	6.341000	0.72977	2.210000	0.71456	0.533000	0.62120	TAT	COX7A2	-	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	ENSG00000112695		0.353	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		72	0.00	0	A	NM_001865		75947696	75947696	-1	no_errors	ENST00000370081	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.996	G
CP	1356	genome.wustl.edu	37	3	148930334	148930334	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:148930334C>T	ENST00000264613.6	-	2	560	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	100	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCTCCAGTTTCAGCTTTGATA	0.378																																						dbGAP											0													112.0	113.0	112.0					3																	148930334		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.298G>A	3.37:g.148930334C>T	ENSP00000264613:p.Glu100Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.E100K	ENST00000264613.6	37	c.298	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836743	0.91117	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.98968	-5.28;-5.28	5.42	4.54	0.55810	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99023	1.0818	10	0.41790	T	0.15	-37.6593	15.5868	0.76489	0.1388:0.8612:0.0:0.0	.	100;100	A8K5A4;P00450	.;CERU_HUMAN	K	100;140	ENSP00000264613:E100K;ENSP00000426888:E140K	ENSP00000264613:E100K	E	-	1	0	CP	150413024	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.320000	0.79064	1.501000	0.48654	0.563000	0.77884	GAA	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000047457		0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	261	0.00	0	C	NM_000096		148930334	148930334	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	missense	153	12.07	21	SNP	1.000	T
CPED1	79974	genome.wustl.edu	37	7	120767165	120767165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:120767165C>T	ENST00000310396.5	+	10	1623	c.1156C>T	c.(1156-1158)Caa>Taa	p.Q386*	CPED1_ENST00000450913.2_Nonsense_Mutation_p.Q386*|CPED1_ENST00000423795.1_Nonsense_Mutation_p.Q166*	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	386						endoplasmic reticulum (GO:0005783)											TTTAAATTTTCAAGATTATGA	0.289																																						dbGAP											0													63.0	68.0	66.0					7																	120767165		2201	4292	6493	-	-	-	SO:0001587	stop_gained	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1156C>T	7.37:g.120767165C>T	ENSP00000309772:p.Gln386*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	NULL	p.Q386*	ENST00000310396.5	37	c.1156	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321206	0.81580	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	.	.	.	4.66	4.66	0.58398	.	0.449489	0.22646	N	0.057390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.717	0.77674	0.0:1.0:0.0:0.0	.	.	.	.	X	386;386;386;166;166	.	ENSP00000309772:Q386X	Q	+	1	0	C7orf58	120554401	1.000000	0.71417	0.966000	0.40874	0.256000	0.26092	4.720000	0.61944	2.295000	0.77249	0.467000	0.42956	CAA	CPED1	-	NULL	ENSG00000106034		0.289	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	209	0.00	0	C	NM_024913		120767165	120767165	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	nonsense	93	10.58	11	SNP	1.000	T
CPT1C	126129	genome.wustl.edu	37	19	50209591	50209591	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:50209591G>A	ENST00000392518.4	+	12	1636	c.1264G>A	c.(1264-1266)Gcg>Acg	p.A422T	CPT1C_ENST00000354199.5_Missense_Mutation_p.A422T|CPT1C_ENST00000598293.1_Missense_Mutation_p.A422T|CPT1C_ENST00000323446.5_Missense_Mutation_p.A422T|CPT1C_ENST00000405931.2_Missense_Mutation_p.A411T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	422					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGCTGAGCCCGCGGGGCTCAC	0.682																																						dbGAP											0													20.0	26.0	24.0					19																	50209591		2181	4287	6468	-	-	-	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1264G>A	19.37:g.50209591G>A	ENSP00000376303:p.Ala422Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A422T	ENST00000392518.4	37	c.1264	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353700	0.24512	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.23	0.335	0.15953	.	0.495865	0.16923	N	0.193992	D	0.87265	0.6134	N	0.17723	0.515	0.18873	N	0.999988	P;D;P;B	0.89917	0.828;1.0;0.794;0.289	B;D;B;B	0.66084	0.37;0.941;0.167;0.258	T	0.79778	-0.1660	10	0.22706	T	0.39	-1.3725	13.1285	0.59368	0.0:0.4793:0.5207:0.0	.	293;422;411;422	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	T	422;422;411;422;293	ENSP00000376303:A422T;ENSP00000346138:A422T;ENSP00000384465:A411T;ENSP00000319343:A422T	ENSP00000295404:A293T	A	+	1	0	CPT1C	54901403	0.954000	0.32549	0.131000	0.22000	0.566000	0.35808	1.215000	0.32431	0.369000	0.24510	0.555000	0.69702	GCG	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.682	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	26	0.00	0	G	NM_152359		50209591	50209591	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.343	A
CRAMP1L	57585	genome.wustl.edu	37	16	1724028	1724028	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:1724028C>T	ENST00000397412.3	+	21	3891	c.3792C>T	c.(3790-3792)gtC>gtT	p.V1264V	CRAMP1L_ENST00000293925.5_Silent_p.V1264V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.V1261V|CRAMP1L_ENST00000262317.4_Silent_p.V639V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1264						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCGCTGTCAGTGACCTGT	0.567																																						dbGAP											0													40.0	41.0	41.0					16																	1724028		2027	4191	6218	-	-	-	SO:0001819	synonymous_variant	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3792C>T	16.37:g.1724028C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.V1264	ENST00000397412.3	37	c.3792	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL	ENSG00000007545		0.567	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	73	0.00	0	C			1724028	1724028	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	silent	78	11.36	10	SNP	0.000	T
CRNKL1	51340	genome.wustl.edu	37	20	20026077	20026077	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:20026077C>T	ENST00000377340.2	-	7	1190	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E375K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E226K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	387					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCATGTTTTTCTTCAAAGCGG	0.433																																						dbGAP											0													163.0	156.0	158.0					20																	20026077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1159G>A	20.37:g.20026077C>T	ENSP00000366557:p.Glu387Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E387K	ENST00000377340.2	37	c.1159	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465210	0.84425	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.12984	2.63;2.63;2.63	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	M	0.84156	2.68	0.80722	D	1	P	0.36171	0.541	P	0.49953	0.627	T	0.02639	-1.1130	10	0.38643	T	0.18	-26.2616	20.0466	0.97609	0.0:1.0:0.0:0.0	.	387	Q9BZJ0	CRNL1_HUMAN	K	375;387;226	ENSP00000366544:E375K;ENSP00000366557:E387K;ENSP00000440733:E226K	ENSP00000366544:E375K	E	-	1	0	CRNKL1	19974077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.729000	0.93468	0.563000	0.77884	GAA	CRNKL1	-	pfam_HAT,smart_HAT	ENSG00000101343		0.433	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	262	0.00	0	C			20026077	20026077	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	128	14.09	21	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3253803	3253803	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:3253803A>T	ENST00000520002.1	-	18	3064	c.2509T>A	c.(2509-2511)Ttc>Atc	p.F837I	CSMD1_ENST00000602557.1_Missense_Mutation_p.F837I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F836I|CSMD1_ENST00000537824.1_Missense_Mutation_p.F836I|CSMD1_ENST00000602723.1_Missense_Mutation_p.F837I|CSMD1_ENST00000400186.3_Missense_Mutation_p.F837I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F836I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	837	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGATGAGGAACTGGGGTGCC	0.557																																						dbGAP											0													51.0	65.0	60.0					8																	3253803		2189	4287	6476	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2509T>A	8.37:g.3253803A>T	ENSP00000430733:p.Phe837Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F837I	ENST00000520002.1	37	c.2509		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.77|18.77	3.694895|3.694895	0.68386|0.68386	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3;2.3|.	5.07|5.07	5.07|5.07	0.68467|0.68467	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60457|0.60457	0.2270|0.2270	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.97110|.	0.993;1.0|.	T|T	0.58098|0.58098	-0.7696|-0.7696	10|5	0.21540|.	T|.	0.41|.	.|.	14.8276|14.8276	0.70125|0.70125	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	837;837|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	I|D	837;837;699;836;836;836|316	ENSP00000383047:F837I;ENSP00000430733:F837I;ENSP00000441462:F836I;ENSP00000446243:F836I;ENSP00000441675:F836I|.	ENSP00000320445:F699I|.	F|V	-|-	1|2	0|0	CSMD1|CSMD1	3241210|3241210	1.000000|1.000000	0.71417|0.71417	0.883000|0.883000	0.34634|0.34634	0.013000|0.013000	0.08279|0.08279	9.112000|9.112000	0.94314|0.94314	1.879000|1.879000	0.54435|0.54435	0.482000|0.482000	0.46254|0.46254	TTC|GTT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	199	0.00	0	A	NM_033225		3253803	3253803	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	86	21.62	24	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113363470	113363470	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:113363470G>A	ENST00000297405.5	-	40	6503	c.6259C>T	c.(6259-6261)Cac>Tac	p.H2087Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2017Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1983Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2047Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2087	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTGAGAGTGACCCTACATA	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													116.0	118.0	118.0					8																	113363470		2203	4293	6496	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6259C>T	8.37:g.113363470G>A	ENSP00000297405:p.His2087Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H2087Y	ENST00000297405.5	37	c.6259	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253947	0.59212	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.32	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.076027	0.53938	D	0.000058	T	0.73133	0.3548	L	0.49455	1.56	0.44247	D	0.997098	P;P;D	0.64830	0.934;0.826;0.994	P;P;D	0.66196	0.609;0.522;0.942	T	0.74228	-0.3733	10	0.46703	T	0.11	.	17.3411	0.87296	0.0:0.0:1.0:0.0	.	1983;2087;2047	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2047;2087;1357;1983;2017	ENSP00000345799:H2047Y;ENSP00000297405:H2087Y;ENSP00000341558:H1357Y;ENSP00000412263:H1983Y;ENSP00000343124:H2017Y	ENSP00000297405:H2087Y	H	-	1	0	CSMD3	113432646	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.557000	0.67313	2.380000	0.81148	0.650000	0.86243	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	239	0.00	0	G	NM_052900		113363470	113363470	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	157	10.80	19	SNP	1.000	A
CSNK1A1	1452	genome.wustl.edu	37	5	148889467	148889467	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:148889467G>C	ENST00000377843.2	-	7	1204	c.725C>G	c.(724-726)tCc>tGc	p.S242C	CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S2C|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.S153C|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.S242C|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.S181C|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S39C|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S270C	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AACAGGCGTGGACATCTTCTT	0.338																																					Colon(5;64 69 1309 10383)	dbGAP											0													120.0	116.0	117.0					5																	148889467		1975	4217	6192	-	-	-	SO:0001583	missense	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.725C>G	5.37:g.148889467G>C	ENSP00000367074:p.Ser242Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.S270C	ENST00000377843.2	37	c.809	CCDS47303.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.073450|5.073450	0.94000|0.94000	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.|T;T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48;2.48	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.48295|0.48295	0.1492|0.1492	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D;D	.|0.76494	.|0.996;0.998;0.938;0.992;0.999;0.974	.|D;D;P;P;D;P	.|0.72625	.|0.976;0.951;0.69;0.898;0.978;0.825	T|T	0.55698|0.55698	-0.8100|-0.8100	5|10	.|0.87932	.|D	.|0	.|.	20.1535|20.1535	0.98095|0.98095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181;242;242;270;153	.|B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.|.;.;.;KC1A_HUMAN;.;.	A|C	73|242;242;153;181;242;270	.|ENSP00000261798:S242C;ENSP00000367074:S242C;ENSP00000426747:S153C;ENSP00000427031:S181C;ENSP00000421689:S270C	.|ENSP00000261798:S242C	P|S	-|-	1|2	0|0	CSNK1A1|CSNK1A1	148869660|148869660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.573000|9.573000	0.98181|0.98181	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	CCA|TCC	CSNK1A1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000113712		0.338	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		418	0.00	0	G	NM_001892		148889467	148889467	-1	no_errors	ENST00000515768	ensembl	human	known	69_37n	missense	176	14.98	31	SNP	1.000	C
CST8	10047	genome.wustl.edu	37	20	23473604	23473604	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:23473604C>G	ENST00000246012.1	+	3	598	c.241C>G	c.(241-243)Ctt>Gtt	p.L81V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	81					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGTCACAAATCTTCTGGAATA	0.343																																						dbGAP											0													132.0	144.0	140.0					20																	23473604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.241C>G	20.37:g.23473604C>G	ENSP00000246012:p.Leu81Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2X6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L81V	ENST00000246012.1	37	c.241	CCDS13156.1	20	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819781	0.02776	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.25414	1.8;2.58	4.4	3.41	0.39046	Proteinase inhibitor I25, cystatin (2);	0.395776	0.27491	N	0.019126	T	0.15912	0.0383	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15694	-1.0428	10	0.62326	D	0.03	-5.4875	7.6024	0.28083	0.0:0.8768:0.0:0.1232	.	81	O60676	CST8_HUMAN	V	81	ENSP00000399144:L81V;ENSP00000246012:L81V	ENSP00000246012:L81V	L	+	1	0	CST8	23421604	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.154000	0.16343	1.350000	0.45770	-0.345000	0.07892	CTT	CST8	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000125815		0.343	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST8	HGNC	protein_coding	OTTHUMT00000078336.1	117	0.00	0	C			23473604	23473604	+1	no_errors	ENST00000246012	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	0.010	G
CTGF	1490	genome.wustl.edu	37	6	132270547	132270547	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:132270547C>A	ENST00000367976.3	-	5	1107	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	303	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.V303L(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTGAACTCCACCGGCAGGGTG	0.537																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	dbGAP											3	Substitution - Missense(3)	endometrium(3)											151.0	146.0	148.0					6																	132270547		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.907G>T	6.37:g.132270547C>A	ENSP00000356954:p.Val303Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.V303L	ENST00000367976.3	37	c.907	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064834	0.55432	.	.	ENSG00000118523	ENST00000367976	T	0.38077	1.16	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (3);	0.054567	0.64402	D	0.000001	T	0.38585	0.1046	L	0.61218	1.895	0.54753	D	0.999989	P	0.44044	0.825	P	0.46299	0.511	T	0.32295	-0.9912	10	0.72032	D	0.01	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	303	P29279	CTGF_HUMAN	L	303	ENSP00000356954:V303L	ENSP00000356954:V303L	V	-	1	0	CTGF	132312240	1.000000	0.71417	0.965000	0.40720	0.956000	0.61745	4.542000	0.60677	2.773000	0.95371	0.585000	0.79938	GTG	CTGF	-	pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C	ENSG00000118523		0.537	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	158	0.00	0	C	NM_001901		132270547	132270547	-1	no_errors	ENST00000367976	ensembl	human	known	69_37n	missense	101	12.07	14	SNP	0.992	A
CTSL	1514	genome.wustl.edu	37	9	90345976	90345976	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:90345976G>A	ENST00000343150.5	+	8	1846	c.956G>A	c.(955-957)aGa>aAa	p.R319K	CTSL_ENST00000340342.6_Missense_Mutation_p.R319K|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	319					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.R319I(1)									AAAGACCGGAGAAACCATTGT	0.522																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											108.0	86.0	93.0					9																	90345976		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.956G>A	9.37:g.90345976G>A	ENSP00000345344:p.Arg319Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.R319K	ENST00000343150.5	37	c.956	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	6.561	0.471794	0.12461	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.20881	2.04;2.04	4.24	1.61	0.23674	Peptidase C1A, papain C-terminal (2);	1.056940	0.07263	N	0.867876	T	0.08088	0.0202	N	0.01679	-0.765	0.29842	N	0.829122	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.24483	T	0.36	.	8.4868	0.33076	0.8271:0.0:0.1729:0.0	.	319	P07711	CATL1_HUMAN	K	319	ENSP00000345344:R319K;ENSP00000365061:R319K	ENSP00000365061:R319K	R	+	2	0	CTSL1	89535796	0.005000	0.15991	0.028000	0.17463	0.097000	0.18754	2.267000	0.43329	0.656000	0.30886	-0.423000	0.05987	AGA	CTSL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.522	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL1	HGNC	protein_coding	OTTHUMT00000052936.1	193	0.00	0	G	NM_001912		90345976	90345976	+1	no_errors	ENST00000340342	ensembl	human	known	69_37n	missense	127	14.19	21	SNP	0.015	A
CUBN	8029	genome.wustl.edu	37	10	16957164	16957164	+	Missense_Mutation	SNP	G	G	C	rs369069102		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:16957164G>C	ENST00000377833.4	-	47	7283	c.7218C>G	c.(7216-7218)atC>atG	p.I2406M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2406	CUB 17. {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)	ATCTGCCCAAGATGTTTCCTG	0.413																																						dbGAP											0													99.0	90.0	93.0					10																	16957164		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.7218C>G	10.37:g.16957164G>C	ENSP00000367064:p.Ile2406Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.I2406M	ENST00000377833.4	37	c.7218	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895918	0.33442	.	.	ENSG00000107611	ENST00000377833	T	0.29142	1.58	4.71	-4.72	0.03269	CUB (5);	2.255940	0.02439	N	0.084332	T	0.19967	0.0480	L	0.35288	1.05	0.09310	N	0.999992	B	0.29805	0.257	B	0.29077	0.098	T	0.22626	-1.0211	10	0.51188	T	0.08	.	2.2414	0.04021	0.1091:0.3518:0.2169:0.3221	.	2406	O60494	CUBN_HUMAN	M	2406	ENSP00000367064:I2406M	ENSP00000367064:I2406M	I	-	3	3	CUBN	16997170	0.000000	0.05858	0.001000	0.08648	0.560000	0.35617	-0.354000	0.07681	-0.338000	0.08413	0.585000	0.79938	ATC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	115	0.00	0	G	NM_001081		16957164	16957164	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	44	11.76	6	SNP	0.000	C
CXCR2P1	3580	genome.wustl.edu	37	2	218925065	218925065	+	RNA	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:218925065G>C	ENST00000439871.1	-	0	1315					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		AGAGGTCTTAGAGAGTAGTGG	0.517																																						dbGAP											0																																										-	-	-			0			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925065G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-	ENSG00000229754		0.517	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	110	0.00	0	G	NR_002712		218925065	218925065	-1	no_errors	ENST00000439871	ensembl	human	known	69_37n	rna	51	15.00	9	SNP	0.869	C
CUL3	8452	genome.wustl.edu	37	2	225378295	225378295	+	Silent	SNP	G	G	A	rs561338665	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:225378295G>A	ENST00000264414.4	-	5	938	c.600C>T	c.(598-600)gtC>gtT	p.V200V	CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000344951.4_Silent_p.V134V|CUL3_ENST00000409777.1_Silent_p.V176V|CUL3_ENST00000409096.1_Silent_p.V176V	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	200					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTCTTCATAGACTGATCTTC	0.308																																						dbGAP											0													59.0	62.0	61.0					2																	225378295		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.600C>T	2.37:g.225378295G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.V200	ENST00000264414.4	37	c.600	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000036257		0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	142	0.00	0	G			225378295	225378295	-1	no_errors	ENST00000264414	ensembl	human	known	69_37n	silent	58	10.77	7	SNP	0.997	A
CYP11B1	1584	genome.wustl.edu	37	8	143958176	143958176	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:143958176G>A	ENST00000292427.4	-	4	753	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.P312S|CYP11B1_ENST00000517471.1_Missense_Mutation_p.P241S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	241					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGCTCCTGGGCATGAACATG	0.627									Familial Hyperaldosteronism type I																													dbGAP											0													41.0	38.0	39.0					8																	143958176		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.721C>T	8.37:g.143958176G>A	ENSP00000292427:p.Pro241Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.P241S	ENST00000292427.4	37	c.721	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	20.8	4.042795	0.75732	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.68181	-0.31;-0.31;-0.31	4.17	4.17	0.49024	.	0.000000	0.50627	D	0.000103	D	0.84070	0.5391	M	0.90650	3.135	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.994;0.996;0.987	D	0.87745	0.2588	10	0.72032	D	0.01	.	14.3012	0.66355	0.0:0.0:1.0:0.0	.	312;241;241	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	S	241;241;312	ENSP00000292427:P241S;ENSP00000428043:P241S;ENSP00000366903:P312S	ENSP00000292427:P241S	P	-	1	0	CYP11B1	143955178	1.000000	0.71417	0.044000	0.18714	0.189000	0.23516	7.457000	0.80775	2.015000	0.59207	0.555000	0.69702	CCC	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	106	0.00	0	G			143958176	143958176	-1	no_errors	ENST00000292427	ensembl	human	known	69_37n	missense	91	10.68	11	SNP	0.972	A
CYC1	1537	genome.wustl.edu	37	8	145151386	145151386	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:145151386C>T	ENST00000318911.4	+	4	673	c.600C>T	c.(598-600)atC>atT	p.I200I		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	200	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGCTACATCGTGCGAGCTA	0.582											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													111.0	105.0	107.0					8																	145151386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.600C>T	8.37:g.145151386C>T		Somatic	1692	WXS	Illumina GAIIx	Phase_IV	Q5U062|Q6FHS7	Silent	SNP	pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1	p.I200	ENST00000318911.4	37	c.600	CCDS6415.1	8																																																																																			CYC1	-	pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1	ENSG00000179091		0.582	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYC1	HGNC	protein_coding	OTTHUMT00000382895.1	195	0.00	0	C	NM_001916		145151386	145151386	+1	no_errors	ENST00000318911	ensembl	human	known	69_37n	silent	135	13.46	21	SNP	1.000	T
CYP4A11	1579	genome.wustl.edu	37	1	47403000	47403000	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:47403000G>A	ENST00000310638.4	-	3	387	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CYP4A11_ENST00000457840.2_Missense_Mutation_p.S15F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.S119F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S119F|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S119F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	119					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAATCTGTAGGAACCATGGGA	0.453																																						dbGAP											0													131.0	121.0	124.0					1																	47403000		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.356C>T	1.37:g.47403000G>A	ENSP00000311095:p.Ser119Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.S119F	ENST00000310638.4	37	c.356	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494653	0.04322	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.78481	-0.37;-0.37;-0.37;-1.18	5.06	-5.93	0.02254	.	2.064530	0.02630	N	0.104155	T	0.53449	0.1797	N	0.11154	0.105	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.57740	-0.7759	10	0.02654	T	1	.	8.9797	0.35957	0.4474:0.1704:0.3822:0.0	.	119	Q02928	CP4AB_HUMAN	F	119;119;119;15	ENSP00000311095:S119F;ENSP00000360971:S119F;ENSP00000360972:S119F;ENSP00000406272:S15F	ENSP00000311095:S119F	S	-	2	0	CYP4A11	47175587	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-3.781000	0.00368	-1.095000	0.03050	-0.321000	0.08615	TCC	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000187048		0.453	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	411	0.00	0	G	NM_000778		47403000	47403000	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	207	21.21	56	SNP	0.000	A
CYP4F2	8529	genome.wustl.edu	37	19	16003212	16003212	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:16003212C>G	ENST00000221700.6	-	5	527	c.432G>C	c.(430-432)tgG>tgC	p.W144C	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGGCGGCTCCACTTGTCAC	0.572																																						dbGAP											0													78.0	78.0	78.0					19																	16003212		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.432G>C	19.37:g.16003212C>G	ENSP00000221700:p.Trp144Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	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_E_grp-II	p.W144C	ENST00000221700.6	37	c.432	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336034	0.41398	.	.	ENSG00000186115	ENST00000221700	T	0.74737	-0.87	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000006	D	0.90628	0.7061	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92524	0.6027	10	0.87932	D	0	.	11.1194	0.48279	0.0:1.0:0.0:0.0	.	144	P78329	CP4F2_HUMAN	C	144	ENSP00000221700:W144C	ENSP00000221700:W144C	W	-	3	0	CYP4F2	15864212	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	6.048000	0.71046	1.486000	0.48398	0.289000	0.19496	TGG	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II	ENSG00000186115		0.572	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	229	0.00	0	C	NM_001082		16003212	16003212	-1	no_errors	ENST00000221700	ensembl	human	known	69_37n	missense	129	14.00	21	SNP	1.000	G
DAP3	7818	genome.wustl.edu	37	1	155706571	155706571	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:155706571G>C	ENST00000368336.5	+	12	1117				MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000343043.3_Intron|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000471642.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACCATATGTGGAGTCCATATG	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.994-166G>C	1.37:g.155706571G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-	ENSG00000132676		0.443	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	39	0.00	0	G	NM_004632		155706571	155706571	+1	no_errors	ENST00000476444	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.002	C
DBNDD2	55861	genome.wustl.edu	37	20	44037637	44037637	+	Intron	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:44037637C>G	ENST00000372720.3	+	3	802				SYS1-DBNDD2_ENST00000452133.1_Intron|DBNDD2_ENST00000372717.1_Silent_p.L112L|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372712.2_Intron|DBNDD2_ENST00000372722.3_Silent_p.L112L|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000360981.4_Intron|DBNDD2_ENST00000372710.3_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000357275.2_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2						negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ATGTCAGGCTCTGAAACGAGG	0.547																																						dbGAP											0													52.0	51.0	51.0					20																	44037637		1897	4115	6012	-	-	-	SO:0001627	intron_variant	0			AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.571+59C>G	20.37:g.44037637C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	pfam_Dysbindin	p.S172C	ENST00000372720.3	37	c.515	CCDS56193.1	20	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914775	0.17907	.	.	ENSG00000244274	ENST00000443296	.	.	.	4.34	3.39	0.38822	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.20638	N	0.999878	.	.	.	.	.	.	T	0.12889	-1.0530	4	.	.	.	.	7.4573	0.27274	0.0:0.8839:0.0:0.1161	.	.	.	.	C	172	.	.	S	+	2	0	DBNDD2	43471051	0.745000	0.28261	0.141000	0.22245	0.542000	0.35054	0.996000	0.29719	2.420000	0.82092	0.655000	0.94253	TCT	DBNDD2	-	NULL	ENSG00000244274		0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	DBNDD2	HGNC	protein_coding	OTTHUMT00000079438.1	112	0.00	0	C	NM_018478		44037637	44037637	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443296	ensembl	human	putative	69_37n	missense	81	14.74	14	SNP	0.065	G
DBT	1629	genome.wustl.edu	37	1	100661894	100661894	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:100661894C>T	ENST00000370132.4	-	11	1379	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	456					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTAGCACCATCAATAACTCTG	0.378																																						dbGAP											0													153.0	153.0	153.0					1																	100661894		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1366G>A	1.37:g.100661894C>T	ENSP00000359151:p.Asp456Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R811|Q5VVL8	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.D456N	ENST00000370132.4	37	c.1366	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.679840	0.96774	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.56776	0.44	6.16	6.16	0.99307	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.78738	-0.2087	10	0.87932	D	0	-29.0481	20.8598	0.99761	0.0:1.0:0.0:0.0	.	275;456	F5H1F9;P11182	.;ODB2_HUMAN	N	275;456	ENSP00000359151:D456N	ENSP00000359151:D456N	D	-	1	0	DBT	100434482	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAT	DBT	-	pfam_2-oxoacid_DH_actylTfrase	ENSG00000137992		0.378	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	HGNC	protein_coding	OTTHUMT00000030101.2	291	0.00	0	C	NM_001918		100661894	100661894	-1	no_errors	ENST00000370132	ensembl	human	known	69_37n	missense	163	10.38	19	SNP	1.000	T
DEK	7913	genome.wustl.edu	37	6	18264149	18264149	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:18264149C>T	ENST00000397239.3	-	2	517	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	DEK_ENST00000244776.7_Missense_Mutation_p.E24K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	24					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCGGGCATTTCGGGTTCTTTC	0.652			T	NUP214	AML																																	dbGAP		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													39.0	40.0	40.0					6																	18264149		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.70G>A	6.37:g.18264149C>T	ENSP00000380414:p.Glu24Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd	p.E24K	ENST00000397239.3	37	c.70	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635371	0.29068	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.53423	0.83;0.62;0.85	4.49	2.55	0.30701	.	0.207210	0.28589	N	0.014814	T	0.12433	0.0302	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15235	-1.0444	10	0.41790	T	0.15	.	5.3663	0.16115	0.0:0.6789:0.2076:0.1135	.	24;24	B4DN37;P35659	.;DEK_HUMAN	K	24;24;29	ENSP00000380414:E24K;ENSP00000244776:E24K;ENSP00000423553:E29K	ENSP00000244776:E24K	E	-	1	0	DEK	18372128	0.991000	0.36638	0.597000	0.28824	0.061000	0.15899	0.838000	0.27572	0.859000	0.35456	0.491000	0.48974	GAA	DEK	-	NULL	ENSG00000124795		0.652	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	83	0.00	0	C			18264149	18264149	-1	no_errors	ENST00000397239	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	0.237	T
DENND4C	55667	genome.wustl.edu	37	9	19346788	19346788	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:19346788G>A	ENST00000380432.2	+	18	3199	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	DENND4C_ENST00000434457.2_Missense_Mutation_p.E1341K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1292K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1056					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGAAAATCCTGAAAGTGAAAA	0.448																																						dbGAP											0													99.0	100.0	99.0					9																	19346788		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3166G>A	9.37:g.19346788G>A	ENSP00000369797:p.Glu1056Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1056K	ENST00000380432.2	37	c.3166		9	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917064	0.17907	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.23348	1.92;1.91	5.62	4.73	0.59995	.	2.957380	0.00682	N	0.000688	T	0.34571	0.0902	L	0.57536	1.79	0.18873	N	0.999982	P;B;P;B	0.40834	0.73;0.277;0.546;0.22	B;B;B;B	0.39531	0.286;0.116;0.302;0.101	T	0.45293	-0.9271	10	0.23891	T	0.37	-8.9836	14.516	0.67818	0.0706:0.0:0.9294:0.0	.	386;1056;238;1056	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	K	1056;529;238;386;529;238;53	ENSP00000305795:E529K;ENSP00000443804:E386K	ENSP00000305795:E529K	E	+	1	0	DENND4C	19336788	0.979000	0.34478	0.730000	0.30809	0.102000	0.19082	3.005000	0.49521	1.381000	0.46364	0.585000	0.79938	GAA	DENND4C	-	NULL	ENSG00000137145		0.448	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		92	0.00	0	G	NM_017925		19346788	19346788	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.103	A
DENND5A	23258	genome.wustl.edu	37	11	9161334	9161334	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:9161334C>G	ENST00000328194.3	-	23	4068	c.3748G>C	c.(3748-3750)Gat>Cat	p.D1250H	SCUBE2_ENST00000534295.1_5'Flank|DENND5A_ENST00000530044.1_Missense_Mutation_p.R1238S|DENND5A_ENST00000527700.1_Missense_Mutation_p.D593H	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1250	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTGCCACATCCTCATACATG	0.532																																						dbGAP											0													156.0	109.0	125.0					11																	9161334		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3748G>C	11.37:g.9161334C>G	ENSP00000328524:p.Asp1250His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D1250H	ENST00000328194.3	37	c.3748	CCDS31423.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769289|4.769289	0.90020|0.90020	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000527700|ENST00000530044;ENST00000528725;ENST00000533737;ENST00000525784	T;T|T	0.12672|0.03951	2.66;2.66|3.75	5.71|5.71	5.71|5.71	0.89125|0.89125	RUN (3);|.	0.087981|.	0.85682|.	D|.	0.000000|.	T|T	0.06416|0.06416	0.0165|0.0165	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|B	0.62365|0.12013	0.991|0.005	D|B	0.66084|0.14023	0.941|0.01	T|T	0.44528|0.44528	-0.9322|-0.9322	10|8	0.87932|.	D|.	0|.	.|.	19.8595|19.8595	0.96778|0.96778	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1250|1238	Q6IQ26|E9PS91	DEN5A_HUMAN|.	H|S	1250;593|1238;148;157;228	ENSP00000328524:D1250H;ENSP00000432549:D593H|ENSP00000435866:R1238S	ENSP00000328524:D1250H|.	D|R	-|-	1|3	0|2	DENND5A|DENND5A	9117910|9117910	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GAT|AGG	DENND5A	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000184014		0.532	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	173	0.00	0	C	NM_015213		9161334	9161334	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	missense	84	11.58	11	SNP	1.000	G
DHDDS	79947	genome.wustl.edu	37	1	26795577	26795577	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:26795577C>G	ENST00000236342.7	+	9	1050	c.957C>G	c.(955-957)ctC>ctG	p.L319L	DHDDS_ENST00000525682.2_Silent_p.L285L|RP3-476K8.3_ENST00000423060.1_RNA|DHDDS_ENST00000360009.2_Silent_p.L320L|DHDDS_ENST00000526219.1_Silent_p.L280L			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	319					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTTGGAACTCAAGCGAGCTG	0.642																																						dbGAP											0													51.0	52.0	51.0					1																	26795577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.957C>G	1.37:g.26795577C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Silent	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.L320	ENST00000236342.7	37	c.960	CCDS282.1	1																																																																																			DHDDS	-	NULL	ENSG00000117682		0.642	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	HGNC	protein_coding	OTTHUMT00000392504.1	23	0.00	0	C	NM_024887		26795577	26795577	+1	no_errors	ENST00000360009	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	1.000	G
DHRS12	79758	genome.wustl.edu	37	13	52348157	52348157	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:52348157G>A	ENST00000444610.2	-	7	537	c.524C>T	c.(523-525)tCa>tTa	p.S175L	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Missense_Mutation_p.S126L|DHRS12_ENST00000218981.1_Missense_Mutation_p.S126L	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	175							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATTCCTCCTGAGGAGACGGT	0.448																																						dbGAP											0													142.0	121.0	128.0					13																	52348157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.524C>T	13.37:g.52348157G>A	ENSP00000411565:p.Ser175Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GB2|Q9H8H1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.S175L	ENST00000444610.2	37	c.524	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768760	0.69878	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	D;D;D	0.96885	-4.16;-4.16;-4.16	3.5	0.695	0.18070	NAD(P)-binding domain (1);	0.066708	0.64402	N	0.000007	D	0.98667	0.9553	H	0.99609	4.655	0.38948	D	0.958299	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.996;0.998	D	0.95849	0.8873	10	0.87932	D	0	.	5.1519	0.15015	0.2111:0.1731:0.6158:0.0	.	126;126;175	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	L	175;126;126	ENSP00000411565:S175L;ENSP00000218981:S126L;ENSP00000280056:S126L	ENSP00000218981:S126L	S	-	2	0	DHRS12	51246158	1.000000	0.71417	0.052000	0.19188	0.431000	0.31685	4.105000	0.57797	0.106000	0.17784	0.561000	0.74099	TCA	DHRS12	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR	ENSG00000102796		0.448	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	226	0.00	0	G	NM_024705		52348157	52348157	-1	no_errors	ENST00000444610	ensembl	human	known	69_37n	missense	133	11.92	18	SNP	0.919	A
DIABLO	56616	genome.wustl.edu	37	12	122693103	122693103	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:122693103G>T	ENST00000443649.3	-	7	1362	c.545C>A	c.(544-546)aCc>aAc	p.T182N	DIABLO_ENST00000413918.1_Missense_Mutation_p.T138N|DIABLO_ENST00000464942.2_Missense_Mutation_p.T129N|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.T129N|B3GNT4_ENST00000545141.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.T138N|B3GNT4_ENST00000546192.1_3'UTR	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)		p.T182N(4)		breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ATTCCTGGCGGTTATAGAGGC	0.577																																						dbGAP											4	Substitution - Missense(4)	endometrium(3)|ovary(1)											63.0	54.0	57.0					12																	122693103		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.545C>A	12.37:g.122693103G>T	ENSP00000398495:p.Thr182Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Missense_Mutation	SNP	pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like	p.T182N	ENST00000443649.3	37	c.545	CCDS9228.1	12	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636528	0.67130	.	.	ENSG00000184047	ENST00000413918;ENST00000443649;ENST00000353548;ENST00000464942;ENST00000267169;ENST00000541273;ENST00000474004;ENST00000540535;ENST00000541656	T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.77	4.85	0.62838	Smac/DIABLO-like (1);	0.202673	0.51477	D	0.000095	D	0.84768	0.5545	M	0.76002	2.32	0.18873	N	0.999982	P;P;P	0.51449	0.945;0.945;0.888	P;P;P	0.54965	0.722;0.765;0.603	T	0.79383	-0.1826	10	0.72032	D	0.01	-3.627	15.3991	0.74823	0.0:0.2635:0.7365:0.0	.	138;182;129	Q6W3F3;Q9NR28;Q502X2	.;DBLOH_HUMAN;.	N	138;182;138;129;129;85;109;109;109	ENSP00000411638:T138N;ENSP00000398495:T182N;ENSP00000320343:T138N;ENSP00000442360:T129N;ENSP00000267169:T129N;ENSP00000440971:T85N;ENSP00000442669:T109N;ENSP00000441139:T109N;ENSP00000440653:T109N	ENSP00000267169:T129N	T	-	2	0	DIABLO	121259056	0.998000	0.40836	0.026000	0.17262	0.948000	0.59901	4.097000	0.57741	1.376000	0.46267	0.650000	0.86243	ACC	DIABLO	-	pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like	ENSG00000184047		0.577	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DIABLO	HGNC	protein_coding	OTTHUMT00000347102.2	161	0.00	0	G	NM_019887		122693103	122693103	-1	no_errors	ENST00000443649	ensembl	human	known	69_37n	missense	87	17.92	19	SNP	0.107	T
DISP1	84976	genome.wustl.edu	37	1	223177017	223177017	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:223177017C>A	ENST00000284476.6	+	8	2442	c.2278C>A	c.(2278-2280)Cct>Act	p.P760T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	760					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTCGTCCCATCCTTTTGAGCG	0.473																																						dbGAP											0													87.0	85.0	86.0					1																	223177017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2278C>A	1.37:g.223177017C>A	ENSP00000284476:p.Pro760Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.P760T	ENST00000284476.6	37	c.2278	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057109	0.76074	.	.	ENSG00000154309	ENST00000284476	D	0.93426	-3.22	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.64404	1.975	0.80722	D	1	D	0.65815	0.995	D	0.70716	0.97	D	0.95561	0.8629	10	0.52906	T	0.07	-23.0771	20.0016	0.97412	0.0:1.0:0.0:0.0	.	760	Q96F81	DISP1_HUMAN	T	760	ENSP00000284476:P760T	ENSP00000284476:P760T	P	+	1	0	DISP1	221243640	1.000000	0.71417	0.772000	0.31596	0.986000	0.74619	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	CCT	DISP1	-	NULL	ENSG00000154309		0.473	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	140	0.00	0	C	NM_032890		223177017	223177017	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	1.000	A
DLG1	1739	genome.wustl.edu	37	3	196771505	196771505	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:196771505C>G	ENST00000419354.1	-	26	2990	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	DLG1_ENST00000448528.2_Missense_Mutation_p.E902Q|DLG1_ENST00000357674.4_Missense_Mutation_p.E891Q|DLG1_ENST00000443183.1_Missense_Mutation_p.E798Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E851Q|DLG1_ENST00000392382.2_Missense_Mutation_p.E869Q|DLG1_ENST00000452595.1_Missense_Mutation_p.E786Q|DLG1_ENST00000346964.2_Missense_Mutation_p.E924Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E851Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E891Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	902					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CATAGCTTTTCTTTTGCCGGA	0.403																																						dbGAP											0													146.0	140.0	142.0					3																	196771505		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2704G>C	3.37:g.196771505C>G	ENSP00000407531:p.Glu902Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E924Q	ENST00000419354.1	37	c.2770	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063379	0.55432	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.17691	2.38;2.42;2.3;2.27;2.29;2.3;2.27;2.26;2.35;2.42	5.48	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.86028	2.79	0.49483	D	0.999792	D;P;P;P;D	0.67145	0.996;0.941;0.786;0.93;0.996	P;P;B;P;P	0.59288	0.855;0.542;0.271;0.688;0.785	T	0.28459	-1.0043	10	0.87932	D	0	.	9.6898	0.40120	0.1411:0.7854:0.0:0.0735	.	891;786;798;902;924	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	Q	924;915;891;889;851;902;786;851;902;798;869;891	ENSP00000345731:E924Q;ENSP00000350303:E891Q;ENSP00000321087:E851Q;ENSP00000407531:E902Q;ENSP00000398939:E786Q;ENSP00000413238:E851Q;ENSP00000391732:E902Q;ENSP00000396658:E798Q;ENSP00000376187:E869Q;ENSP00000411278:E891Q	ENSP00000321087:E851Q	E	-	1	0	DLG1	198255902	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	0.676000	0.31285	0.655000	0.94253	GAA	DLG1	-	pirsf_M-assoc_guanylate_kinase	ENSG00000075711		0.403	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	284	0.00	0	C	NM_004087		196771505	196771505	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	148	17.78	32	SNP	1.000	G
DNAH9	1770	genome.wustl.edu	37	17	11514971	11514971	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:11514971G>A	ENST00000262442.4	+	4	846	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E260K|DNAH9_ENST00000579828.1_Missense_Mutation_p.E260K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	260	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGCAGGTATGAAGATCTGAA	0.458																																						dbGAP											0													122.0	112.0	116.0					17																	11514971		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.778G>A	17.37:g.11514971G>A	ENSP00000262442:p.Glu260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E260K	ENST00000262442.4	37	c.778	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	3.270	-0.149293	0.06585	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56275	0.47;0.47	5.59	5.59	0.84812	Dynein heavy chain, domain-1 (1);	0.359317	0.28431	N	0.015376	T	0.40196	0.1107	N	0.25332	0.735	0.80722	D	1	B;B	0.24186	0.009;0.099	B;B	0.22152	0.021;0.038	T	0.30504	-0.9976	10	0.07175	T	0.84	.	19.1905	0.93664	0.0:0.0:1.0:0.0	.	260;260	Q9NYC9;E7EP17	DYH9_HUMAN;.	K	260	ENSP00000262442:E260K;ENSP00000414874:E260K	ENSP00000262442:E260K	E	+	1	0	DNAH9	11455696	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	5.596000	0.67570	2.635000	0.89317	0.609000	0.83330	GAA	DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	165	0.00	0	G	NM_001372		11514971	11514971	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	74	11.90	10	SNP	0.995	A
DNAH9	1770	genome.wustl.edu	37	17	11520928	11520928	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:11520928C>G	ENST00000262442.4	+	5	1173	c.1105C>G	c.(1105-1107)Ctc>Gtc	p.L369V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L369V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	369	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGCAACCTTCTCATCCAGCA	0.592																																						dbGAP											0													53.0	53.0	53.0					17																	11520928		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1105C>G	17.37:g.11520928C>G	ENSP00000262442:p.Leu369Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L369V	ENST00000262442.4	37	c.1105	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	16.15	3.043080	0.55003	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.66460	-0.21;-0.21	5.91	4.93	0.64822	Dynein heavy chain, domain-1 (1);	0.077191	0.53938	D	0.000058	T	0.63426	0.2510	M	0.64567	1.98	0.80722	D	1	B	0.31893	0.345	B	0.33121	0.158	T	0.65643	-0.6118	10	0.56958	D	0.05	.	11.3686	0.49687	0.0:0.8596:0.0:0.1404	.	369	Q9NYC9	DYH9_HUMAN	V	369	ENSP00000262442:L369V;ENSP00000414874:L369V	ENSP00000262442:L369V	L	+	1	0	DNAH9	11461653	0.998000	0.40836	0.998000	0.56505	0.920000	0.55202	3.435000	0.52849	2.802000	0.96397	0.655000	0.94253	CTC	DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	41	0.00	0	C	NM_001372		11520928	11520928	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	G
DNAJB9	4189	genome.wustl.edu	37	7	108213604	108213604	+	Missense_Mutation	SNP	C	C	G	rs267601234		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:108213604C>G	ENST00000249356.3	+	3	1025	c.479C>G	c.(478-480)tCt>tGt	p.S160C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	160					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						CAAGAATTTTCTTTTGGAGGT	0.378																																						dbGAP											0													140.0	139.0	139.0					7																	108213604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.479C>G	7.37:g.108213604C>G	ENSP00000249356:p.Ser160Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S160C	ENST00000249356.3	37	c.479	CCDS5752.1	7	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419109	0.62622	.	.	ENSG00000128590	ENST00000249356	T	0.61980	0.06	5.86	5.86	0.93980	.	0.202987	0.52532	D	0.000064	T	0.64929	0.2643	M	0.62723	1.935	0.50632	D	0.999888	D	0.55172	0.97	B	0.43916	0.436	T	0.65582	-0.6133	9	.	.	.	.	19.1901	0.93663	0.0:1.0:0.0:0.0	.	160	Q9UBS3	DNJB9_HUMAN	C	160	ENSP00000249356:S160C	.	S	+	2	0	DNAJB9	108000840	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.776000	0.95493	0.655000	0.94253	TCT	DNAJB9	-	NULL	ENSG00000128590		0.378	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB9	HGNC	protein_coding	OTTHUMT00000337414.1	401	0.00	0	C			108213604	108213604	+1	no_errors	ENST00000249356	ensembl	human	known	69_37n	missense	289	11.89	39	SNP	1.000	G
DNAJC11	55735	genome.wustl.edu	37	1	6738481	6738481	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:6738481C>T	ENST00000377577.5	-	3	372	c.249G>A	c.(247-249)aaG>aaA	p.K83K	DNAJC11_ENST00000377573.5_Intron|DNAJC11_ENST00000542246.1_Silent_p.K45K|DNAJC11_ENST00000349363.6_Silent_p.K45K|DNAJC11_ENST00000294401.7_Silent_p.K83K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	83						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTCCTCTCTTCCCATATA	0.403																																						dbGAP											0													104.0	98.0	100.0					1																	6738481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.249G>A	1.37:g.6738481C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K83	ENST00000377577.5	37	c.249	CCDS87.1	1																																																																																			DNAJC11	-	superfamily_DnaJ_N,prints_Hsp_DnaJ	ENSG00000007923		0.403	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	314	0.00	0	C	NM_018198		6738481	6738481	-1	no_errors	ENST00000377577	ensembl	human	known	69_37n	silent	157	21.50	43	SNP	1.000	T
DRAXIN	374946	genome.wustl.edu	37	1	11769376	11769376	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:11769376G>A	ENST00000294485.5	+	3	631	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GAAGAAGGCAGAGCTCTCCGA	0.622																																						dbGAP											0													57.0	51.0	53.0					1																	11769376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.496G>A	1.37:g.11769376G>A	ENSP00000294485:p.Glu166Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E166K	ENST00000294485.5	37	c.496	CCDS135.1	1	.	.	.	.	.	.	.	.	.	.	g	16.60	3.169169	0.57584	.	.	ENSG00000162490	ENST00000294485	T	0.44083	0.93	5.42	3.44	0.39384	.	0.205916	0.41938	D	0.000795	T	0.35711	0.0941	M	0.67953	2.075	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.20240	-1.0281	10	0.30854	T	0.27	-19.3429	5.6345	0.17528	0.1681:0.0:0.6727:0.1592	.	166	Q8NBI3	DRAXI_HUMAN	K	166	ENSP00000294485:E166K	ENSP00000294485:E166K	E	+	1	0	C1orf187	11691963	0.225000	0.23685	0.008000	0.14137	0.597000	0.36814	2.403000	0.44530	1.287000	0.44583	0.561000	0.74099	GAG	DRAXIN	-	NULL	ENSG00000162490		0.622	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAXIN	HGNC	protein_coding	OTTHUMT00000006325.1	79	0.00	0	G	NM_198545		11769376	11769376	+1	no_errors	ENST00000294485	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.002	A
DNTTIP2	30836	genome.wustl.edu	37	1	94343226	94343226	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:94343226C>T	ENST00000436063.2	-	2	322	c.265G>A	c.(265-267)Gag>Aag	p.E89K	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GACTCTGCCTCAGAGGTTTCT	0.448																																						dbGAP											0													102.0	97.0	99.0					1																	94343226		1911	4122	6033	-	-	-	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.265G>A	1.37:g.94343226C>T	ENSP00000411010:p.Glu89Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.E89K	ENST00000436063.2	37	c.265	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600734	0.66332	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.27104	1.69	4.91	4.91	0.64330	.	0.104284	0.41938	D	0.000792	T	0.41465	0.1160	M	0.71581	2.175	0.42422	D	0.992645	D	0.76494	0.999	D	0.65010	0.931	T	0.38222	-0.9671	10	0.87932	D	0	.	16.5515	0.84473	0.0:1.0:0.0:0.0	.	89	Q5QJE6	TDIF2_HUMAN	K	89;96	ENSP00000411010:E89K	ENSP00000352137:E89K	E	-	1	0	DNTTIP2	94115814	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	4.685000	0.61693	2.563000	0.86464	0.644000	0.83932	GAG	DNTTIP2	-	NULL	ENSG00000067334		0.448	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	291	0.00	0	C	NM_014597		94343226	94343226	-1	no_errors	ENST00000436063	ensembl	human	known	69_37n	missense	151	16.57	30	SNP	1.000	T
DSC2	1824	genome.wustl.edu	37	18	28669404	28669404	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:28669404C>T	ENST00000280904.6	-	5	1071	c.628G>A	c.(628-630)Gag>Aag	p.E210K	DSC2_ENST00000251081.6_Missense_Mutation_p.E210K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	210	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GACTTTACCTCAAAAGATTCA	0.383																																						dbGAP											0													88.0	84.0	86.0					18																	28669404		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.628G>A	18.37:g.28669404C>T	ENSP00000280904:p.Glu210Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E210K	ENST00000280904.6	37	c.628	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309452	0.10733	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.54071	0.59;0.59	6.16	1.21	0.21127	Cadherin (4);Cadherin-like (1);	0.539115	0.13961	N	0.350841	T	0.28333	0.0700	N	0.12746	0.255	0.30318	N	0.78789	B;B	0.13594	0.008;0.006	B;B	0.14023	0.01;0.006	T	0.29027	-1.0025	10	0.11794	T	0.64	.	7.869	0.29554	0.0:0.3443:0.4576:0.1981	.	210;210	Q02487;Q02487-2	DSC2_HUMAN;.	K	210;210;223	ENSP00000251081:E210K;ENSP00000280904:E210K	ENSP00000251081:E210K	E	-	1	0	DSC2	26923402	0.913000	0.31002	0.999000	0.59377	0.109000	0.19521	-0.166000	0.09954	0.178000	0.19917	-0.986000	0.02555	GAG	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134755		0.383	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	141	0.00	0	C	NM_004949		28669404	28669404	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.991	T
DSC2	1824	genome.wustl.edu	37	18	28669422	28669422	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:28669422C>T	ENST00000280904.6	-	5	1053	c.610G>A	c.(610-612)Gag>Aag	p.E204K	DSC2_ENST00000251081.6_Missense_Mutation_p.E204K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	204	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATACTGCTCACGATCTACA	0.393																																						dbGAP											0													103.0	98.0	100.0					18																	28669422		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.610G>A	18.37:g.28669422C>T	ENSP00000280904:p.Glu204Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E204K	ENST00000280904.6	37	c.610	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598382	0.87055	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.72394	-0.65;-0.65	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	0.000000	0.32687	N	0.005771	D	0.90310	0.6969	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	204;204	Q02487;Q02487-2	DSC2_HUMAN;.	K	204;204;217	ENSP00000251081:E204K;ENSP00000280904:E204K	ENSP00000251081:E204K	E	-	1	0	DSC2	26923420	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	6.210000	0.72176	2.937000	0.99478	0.650000	0.86243	GAG	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134755		0.393	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	182	0.00	0	C	NM_004949		28669422	28669422	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	1.000	T
DSN1	79980	genome.wustl.edu	37	20	35399512	35399512	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:35399512G>A	ENST00000426836.1	-	3	491	c.119C>T	c.(118-120)gCc>gTc	p.A40V	DSN1_ENST00000373750.4_Missense_Mutation_p.A40V|DSN1_ENST00000373745.3_Missense_Mutation_p.A40V|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.A24V	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	40					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CTCCAGGGAGGCAGATGTTTT	0.418																																						dbGAP											0													167.0	167.0	167.0					20																	35399512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.119C>T	20.37:g.35399512G>A	ENSP00000389810:p.Ala40Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.A40V	ENST00000426836.1	37	c.119	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887868	0.52014	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	4.97	3.03	0.35002	.	0.429674	0.22924	N	0.053983	T	0.29061	0.0722	L	0.34521	1.04	0.26288	N	0.978169	B	0.12630	0.006	B	0.10450	0.005	T	0.22800	-1.0206	9	0.66056	D	0.02	-20.0743	6.1475	0.20293	0.0942:0.0:0.7216:0.1842	.	40	Q9H410	DSN1_HUMAN	V	40;40;24;40;24;40	.	ENSP00000362850:A40V	A	-	2	0	DSN1	34832926	0.993000	0.37304	0.930000	0.37139	0.871000	0.50021	0.879000	0.28146	0.688000	0.31529	-0.152000	0.13540	GCC	DSN1	-	NULL	ENSG00000149636		0.418	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	123	0.00	0	G	NM_024918		35399512	35399512	-1	no_errors	ENST00000373745	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	0.992	A
DST	667	genome.wustl.edu	37	6	56468735	56468735	+	Missense_Mutation	SNP	C	C	G	rs534262273		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:56468735C>G	ENST00000361203.3	-	36	10065	c.10058G>C	c.(10057-10059)aGa>aCa	p.R3353T	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R3531T|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R3353T|DST_ENST00000446842.2_Missense_Mutation_p.R3027T|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R3353T			Q03001	DYST_HUMAN	dystonin	3353					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)			CTTCTCATCTCTTGGCAATGT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18880	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													75.0	69.0	71.0					6																	56468735		1863	4113	5976	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10058G>C	6.37:g.56468735C>G	ENSP00000354508:p.Arg3353Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_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.R3531T	ENST00000361203.3	37	c.10592		6	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318480	0.23994	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81659	-0.03;-0.04;0.91;-1.52;-0.06;-0.53	5.29	3.48	0.39840	.	0.386006	0.21853	N	0.068148	T	0.46073	0.1374	.	.	.	0.24263	N	0.995279	B	0.02656	0.0	B	0.04013	0.001	T	0.17684	-1.0361	8	0.14656	T	0.56	.	8.6744	0.34170	0.0:0.6294:0.291:0.0796	.	3027	Q03001-9	.	T	3531;3353;3027;3353;3353;3027	ENSP00000359790:R3531T;ENSP00000359805:R3353T;ENSP00000393645:R3027T;ENSP00000307959:R3353T;ENSP00000354508:R3353T;ENSP00000404924:R3027T	ENSP00000307959:R3353T	R	-	2	0	DST	56576694	0.002000	0.14202	0.008000	0.14137	0.112000	0.19704	0.064000	0.14437	1.375000	0.46248	-0.264000	0.10439	AGA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	216	0.00	0	C	NM_001723		56468735	56468735	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	87	16.35	17	SNP	0.002	G
DYNC2H1	79659	genome.wustl.edu	37	11	103019265	103019265	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:103019265C>G	ENST00000375735.2	+	20	3009	c.2865C>G	c.(2863-2865)gtC>gtG	p.V955V	DYNC2H1_ENST00000398093.3_Silent_p.V955V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	955	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTATGGAAGTCTTAACAATTA	0.333																																						dbGAP											0													80.0	69.0	73.0					11																	103019265		1827	4082	5909	-	-	-	SO:0001819	synonymous_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2865C>G	11.37:g.103019265C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V955	ENST00000375735.2	37	c.2865	CCDS53701.1	11																																																																																			DYNC2H1	-	NULL	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	325	0.00	0	C	XM_370652		103019265	103019265	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	silent	141	15.06	25	SNP	0.682	G
E2F4	1874	genome.wustl.edu	37	16	67228757	67228757	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:67228757C>G	ENST00000379378.3	+	6	741	c.682C>G	c.(682-684)Ctg>Gtg	p.L228V		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	228					blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ACCTCCACCTCTGCCCAAGCC	0.592																																						dbGAP											0													114.0	104.0	107.0					16																	67228757		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.682C>G	16.37:g.67228757C>G	ENSP00000368686:p.Leu228Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_E2F_TDP	p.L228V	ENST00000379378.3	37	c.682	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187518	0.21870	.	.	ENSG00000205250	ENST00000379378	D	0.85171	-1.95	5.18	3.17	0.36434	.	0.478935	0.22220	N	0.062974	T	0.72391	0.3454	N	0.22421	0.69	0.25521	N	0.987367	B	0.30406	0.278	B	0.24974	0.057	T	0.59685	-0.7408	10	0.29301	T	0.29	-6.9446	10.1013	0.42507	0.1549:0.6961:0.1491:0.0	.	228	Q16254	E2F4_HUMAN	V	228	ENSP00000368686:L228V	ENSP00000368686:L228V	L	+	1	2	E2F4	65786258	0.012000	0.17670	0.998000	0.56505	0.218000	0.24690	1.356000	0.34079	0.806000	0.34183	-0.150000	0.13652	CTG	E2F4	-	NULL	ENSG00000205250		0.592	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	224	0.00	0	C	NM_001950		67228757	67228757	+1	no_errors	ENST00000379378	ensembl	human	known	69_37n	missense	119	12.41	17	SNP	0.862	G
EBAG9	9166	genome.wustl.edu	37	8	110563122	110563122	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:110563122G>A	ENST00000337573.5	+	2	369	c.69G>A	c.(67-69)aaG>aaA	p.K23K	EBAG9_ENST00000531677.1_Silent_p.K23K|EBAG9_ENST00000395785.2_Silent_p.K23K|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	23					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CATTCCTAAAGAGATTAATAT	0.388																																						dbGAP											0													69.0	62.0	64.0					8																	110563122		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.69G>A	8.37:g.110563122G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Silent	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.K23	ENST00000337573.5	37	c.69	CCDS6313.1	8																																																																																			EBAG9	-	pirsf_Cancer-assoc_antigen_RCAS1	ENSG00000147654		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1	303	0.00	0	G	NM_004215		110563122	110563122	+1	no_errors	ENST00000337573	ensembl	human	known	69_37n	silent	214	11.93	29	SNP	1.000	A
EDA	1896	genome.wustl.edu	37	X	69177016	69177016	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:69177016G>A	ENST00000374552.4	+	2	744				EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A						cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TATCACTTCTGAATTATTTGT	0.443																																						dbGAP											0													92.0	87.0	89.0					X																	69177016		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.502+34G>A	X.37:g.69177016G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	RNA	SNP	-	NULL	ENST00000374552.4	37	NULL	CCDS14394.1	X																																																																																			EDA	-	-	ENSG00000158813		0.443	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	HGNC	protein_coding	OTTHUMT00000057048.2	213	0.00	0	G	NM_001399		69177016	69177016	+1	no_errors	ENST00000502251	ensembl	human	known	69_37n	rna	86	11.34	11	SNP	0.004	A
EEPD1	80820	genome.wustl.edu	37	7	36194661	36194661	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:36194661C>G	ENST00000242108.4	+	2	1446	c.728C>G	c.(727-729)tCc>tGc	p.S243C	EEPD1_ENST00000534978.1_Missense_Mutation_p.S243C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	243					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGATTATCTCCACTCGGCCG	0.662																																						dbGAP											0													38.0	41.0	40.0					7																	36194661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.728C>G	7.37:g.36194661C>G	ENSP00000242108:p.Ser243Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.S243C	ENST00000242108.4	37	c.728	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077621	0.76528	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.34472	1.36;1.36	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.49072	-0.8977	10	0.59425	D	0.04	-31.7876	16.7482	0.85478	0.0:1.0:0.0:0.0	.	243	Q7L9B9	EEPD1_HUMAN	C	243	ENSP00000242108:S243C;ENSP00000442692:S243C	ENSP00000242108:S243C	S	+	2	0	EEPD1	36161186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.585000	0.82584	2.628000	0.89032	0.655000	0.94253	TCC	EEPD1	-	NULL	ENSG00000122547		0.662	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	55	0.00	0	C	NM_030636		36194661	36194661	+1	no_errors	ENST00000242108	ensembl	human	known	69_37n	missense	30	40.00	20	SNP	1.000	G
EFCAB12	90288	genome.wustl.edu	37	3	129134099	129134099	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:129134099G>C	ENST00000505956.1	-	4	989	c.827C>G	c.(826-828)aCt>aGt	p.T276S	EFCAB12_ENST00000326085.3_Missense_Mutation_p.T276S	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	276							calcium ion binding (GO:0005509)										CTCCCTTGCAGTGGCCAGGCT	0.592																																						dbGAP											0													112.0	116.0	115.0					3																	129134099		2123	4234	6357	-	-	-	SO:0001583	missense	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.827C>G	3.37:g.129134099G>C	ENSP00000420854:p.Thr276Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YX4	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.T276S	ENST00000505956.1	37	c.827	CCDS54638.1	3	.	.	.	.	.	.	.	.	.	.	G	7.321	0.617019	0.14129	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	T;T;T	0.33438	2.45;2.45;1.41	4.1	-0.0349	0.13894	.	1.380980	0.04631	N	0.403634	T	0.18800	0.0451	L	0.27053	0.805	0.09310	N	1	B	0.19331	0.035	B	0.17722	0.019	T	0.18241	-1.0343	10	0.21014	T	0.42	-0.7966	2.388	0.04371	0.0978:0.1642:0.4011:0.3369	.	276	Q6NXP0	CC025_HUMAN	S	276;276;126	ENSP00000420854:T276S;ENSP00000324241:T276S;ENSP00000421462:T126S	ENSP00000324241:T276S	T	-	2	0	C3orf25	130616789	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	-0.018000	0.14079	0.555000	0.69702	ACT	EFCAB12	-	NULL	ENSG00000172771		0.592	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	173	0.00	0	G	NM_207307		129134099	129134099	-1	no_errors	ENST00000326085	ensembl	human	known	69_37n	missense	102	11.30	13	SNP	0.000	C
EFCAB6	64800	genome.wustl.edu	37	22	44011765	44011765	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:44011765C>G	ENST00000262726.7	-	21	2756	c.2503G>C	c.(2503-2505)Gag>Cag	p.E835Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E683Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGAGCCTGCTCACAAGCTAGT	0.323																																						dbGAP											0													107.0	99.0	102.0					22																	44011765		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2503G>C	22.37:g.44011765C>G	ENSP00000262726:p.Glu835Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E835Q	ENST00000262726.7	37	c.2503	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521422	0.64747	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.52526	0.66;0.66	5.15	4.13	0.48395	.	0.227371	0.34853	N	0.003622	T	0.61565	0.2357	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.62048	-0.6936	10	0.46703	T	0.11	-24.4301	12.3922	0.55364	0.0:0.9214:0.0:0.0786	.	835	Q5THR3	EFCB6_HUMAN	Q	683;835	ENSP00000379533:E683Q;ENSP00000262726:E835Q	ENSP00000262726:E835Q	E	-	1	0	EFCAB6	42343098	1.000000	0.71417	0.844000	0.33320	0.993000	0.82548	3.408000	0.52651	1.319000	0.45190	0.655000	0.94253	GAG	EFCAB6	-	NULL	ENSG00000186976		0.323	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	270	0.00	0	C	NM_022785		44011765	44011765	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	missense	118	11.28	15	SNP	0.995	G
EFCAB9	285588	genome.wustl.edu	37	5	171626397	171626397	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:171626397C>G	ENST00000398186.4	+	2	148	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001171183.1	NP_001164654.1	A8MZ26	EFCB9_HUMAN	EF-hand calcium binding domain 9	49							calcium ion binding (GO:0005509)			breast(2)	2						ATGTGCTGTTCTATCACTTCC	0.428																																						dbGAP											0													140.0	111.0	120.0					5																	171626397		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54946.1	5q35.1	2013-01-10			ENSG00000214360	ENSG00000214360		"""EF-hand domain containing"""	34530	protein-coding gene	gene with protein product							Standard	NM_001171183		Approved		uc021yhr.1	A8MZ26	OTTHUMG00000163271	ENST00000398186.4:c.147C>G	5.37:g.171626397C>G	ENSP00000381247:p.Phe49Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfscan_EF_HAND_2	p.F49L	ENST00000398186.4	37	c.147	CCDS54946.1	5	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626960	0.66901	.	.	ENSG00000214360	ENST00000398186	T	0.42513	0.97	5.75	3.98	0.46160	.	0.000000	0.41712	U	0.000833	T	0.39600	0.1084	M	0.70275	2.135	0.29595	N	0.848109	.	.	.	.	.	.	T	0.39563	-0.9608	8	0.02654	T	1	-2.2054	9.0271	0.36236	0.0:0.8302:0.0:0.1698	.	.	.	.	L	49	ENSP00000381247:F49L	ENSP00000381247:F49L	F	+	3	2	EFCAB9	171559002	1.000000	0.71417	0.971000	0.41717	0.872000	0.50106	0.789000	0.26886	0.788000	0.33755	0.655000	0.94253	TTC	EFCAB9	-	NULL	ENSG00000214360		0.428	EFCAB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB9	HGNC	protein_coding	OTTHUMT00000372421.1	143	0.00	0	C	NM_001171183		171626397	171626397	+1	no_errors	ENST00000398186	ensembl	human	known	69_37n	missense	55	32.10	26	SNP	0.995	G
EFHC2	80258	genome.wustl.edu	37	X	44094563	44094563	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:44094563C>G	ENST00000420999.1	-	9	1494	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	471	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GAATTCCTCTCTATAGGTTCA	0.338																																						dbGAP											0													56.0	48.0	50.0					X																	44094563		1827	4070	5897	-	-	-	SO:0001583	missense	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1411G>C	X.37:g.44094563C>G	ENSP00000404232:p.Glu471Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.E471Q	ENST00000420999.1	37	c.1411	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.355|0.355	-0.942574|-0.942574	0.02322|0.02322	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.41065|.	1.01;1.01|.	5.61|5.61	2.38|2.38	0.29361|0.29361	Uncharacterised domain DM10 (2);|.	0.790576|.	0.11653|.	N|.	0.542573|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.04018|0.04018	-0.295|-0.295	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.11794|.	T|.	0.64|.	-4.2627|-4.2627	3.8488|3.8488	0.08946|0.08946	0.147:0.4914:0.2636:0.098|0.147:0.4914:0.2636:0.098	.|.	471|.	Q5JST6|.	EFHC2_HUMAN|.	Q|T	471;499|451	ENSP00000333823:E471Q;ENSP00000404232:E499Q|.	ENSP00000333823:E471Q|.	E|R	-|-	1|2	0|0	EFHC2|EFHC2	43979507|43979507	0.979000|0.979000	0.34478|0.34478	0.022000|0.022000	0.16811|0.16811	0.534000|0.534000	0.34807|0.34807	1.603000|1.603000	0.36794|0.36794	1.073000|1.073000	0.40885|0.40885	0.597000|0.597000	0.82753|0.82753	GAG|AGA	EFHC2	-	pfam_DUF1126,smart_Uncharacterised_DM10	ENSG00000183690		0.338	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	167	0.00	0	C	NM_025184		44094563	44094563	-1	no_errors	ENST00000333807	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	0.001	G
EFNB3	1949	genome.wustl.edu	37	17	7611466	7611466	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:7611466G>A	ENST00000226091.2	+	2	710	c.313G>A	c.(313-315)Gat>Aat	p.D105N		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	105	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCTCACTTGTGATCGCCCAGA	0.562																																						dbGAP											0													69.0	70.0	70.0					17																	7611466		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.313G>A	17.37:g.7611466G>A	ENSP00000226091:p.Asp105Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.D105N	ENST00000226091.2	37	c.313	CCDS11120.1	17	.	.	.	.	.	.	.	.	.	.	g	9.427	1.084499	0.20309	.	.	ENSG00000108947	ENST00000226091	D	0.94793	-3.52	4.85	4.85	0.62838	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	N	0.17379	0.485	0.53688	D	0.999974	B	0.31077	0.307	B	0.26969	0.075	T	0.81818	-0.0758	10	0.05436	T	0.98	-19.638	10.477	0.44670	0.0905:0.0:0.9095:0.0	.	105	Q15768	EFNB3_HUMAN	N	105	ENSP00000226091:D105N	ENSP00000226091:D105N	D	+	1	0	EFNB3	7552191	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.684000	0.54671	2.506000	0.84524	0.472000	0.43445	GAT	EFNB3	-	pfam_Ephrin,superfamily_Cupredoxin	ENSG00000108947		0.562	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	HGNC	protein_coding	OTTHUMT00000226965.1	32	0.00	0	G	NM_001406		7611466	7611466	+1	no_errors	ENST00000226091	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	A
EI24	9538	genome.wustl.edu	37	11	125448876	125448876	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:125448876G>A	ENST00000278903.6	+	7	715	c.473G>A	c.(472-474)gGg>gAg	p.G158E	EI24_ENST00000343678.4_Missense_Mutation_p.G158E|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	158					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAGGTATCAGGGAGGAAGCCT	0.448																																						dbGAP											0													70.0	60.0	63.0					11																	125448876		1902	4121	6023	-	-	-	SO:0001583	missense	0			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.473G>A	11.37:g.125448876G>A	ENSP00000278903:p.Gly158Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	NULL	p.G158E	ENST00000278903.6	37	c.473		11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662972	0.88251	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842	.	.	.	5.25	5.25	0.73442	.	0.097154	0.64402	D	0.000001	T	0.77665	0.4164	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.77557	0.981;0.99;0.99;0.981	T	0.74722	-0.3569	9	0.33141	T	0.24	-15.6873	18.8316	0.92143	0.0:0.0:1.0:0.0	.	144;158;158;158	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	E	158;158;201;158	.	ENSP00000278903:G158E	G	+	2	0	EI24	124954086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.039000	0.93777	2.615000	0.88500	0.650000	0.86243	GGG	EI24	-	NULL	ENSG00000149547		0.448	EI24-201	KNOWN	basic|appris_principal	protein_coding	EI24	HGNC	protein_coding		258	0.00	0	G	NM_004879		125448876	125448876	+1	no_errors	ENST00000278903	ensembl	human	known	69_37n	missense	134	12.99	20	SNP	1.000	A
EIF2B5	8893	genome.wustl.edu	37	3	183855691	183855691	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:183855691G>C	ENST00000273783.3	+	4	634	c.512G>C	c.(511-513)aGa>aCa	p.R171T	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Missense_Mutation_p.R171T|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	171					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TATAGGTTGAGACGGAAGCTA	0.483																																						dbGAP											0													47.0	46.0	46.0					3																	183855691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.512G>C	3.37:g.183855691G>C	ENSP00000273783:p.Arg171Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.R171T	ENST00000273783.3	37	c.512	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	g	21.9	4.211773	0.79240	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.98585	-5.01;-5.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99581	1.0973	10	0.54805	T	0.06	-19.1087	19.5766	0.95447	0.0:0.0:1.0:0.0	.	171	Q13144	EI2BE_HUMAN	T	171	ENSP00000273783:R171T;ENSP00000409142:R171T	ENSP00000273783:R171T	R	+	2	0	EIF2B5	185338385	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.609000	0.98334	2.627000	0.88993	0.655000	0.94253	AGA	EIF2B5	-	NULL	ENSG00000145191		0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	104	0.00	0	G			183855691	183855691	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	C
ELTD1	64123	genome.wustl.edu	37	1	79472337	79472337	+	Start_Codon_SNP	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:79472337C>T	ENST00000370742.3	-	1	66	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	1					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGAGGCGTTTCATTGGCGGTG	0.697																																						dbGAP											0													12.0	17.0	15.0					1																	79472337		1966	4126	6092	-	-	-	SO:0001582	initiator_codon_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.3G>A	1.37:g.79472337C>T	ENSP00000359778:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.M1I	ENST00000370742.3	37	c.3	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055284	0.75960	.	.	ENSG00000162618	ENST00000370742	T	0.34667	1.35	5.89	5.89	0.94794	.	.	.	.	.	T	0.50120	0.1597	.	.	.	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.40175	-0.9577	7	.	.	.	.	16.9754	0.86311	0.0:1.0:0.0:0.0	.	1	Q9HBW9	ELTD1_HUMAN	I	1	ENSP00000359778:M1I	.	M	-	3	0	ELTD1	79244925	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.897000	0.56273	2.797000	0.96272	0.563000	0.77884	ATG	ELTD1	-	NULL	ENSG00000162618		0.697	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	97	0.00	0	C	NM_022159	Missense_Mutation	79472337	79472337	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	T
EML5	161436	genome.wustl.edu	37	14	89210436	89210436	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:89210436C>T	ENST00000380664.5	-	4	456		c.e4-1		EML5_ENST00000554922.1_Splice_Site|EML5_ENST00000352093.5_Splice_Site			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATCAAATATCTGTAAACAAA	0.308																																						dbGAP											0													60.0	51.0	54.0					14																	89210436		1791	4061	5852	-	-	-	SO:0001630	splice_region_variant	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.457-1G>A	14.37:g.89210436C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Splice_Site	SNP	-	e4-1	ENST00000380664.5	37	c.457-1	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454170	0.84209	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6216	0.91323	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EML5	88280189	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.153000	0.77428	2.454000	0.82982	0.591000	0.81541	.	EML5	-	-	ENSG00000165521		0.308	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	127	0.00	0	C		Intron	89210436	89210436	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	splice_site	75	15.73	14	SNP	1.000	T
EML6	400954	genome.wustl.edu	37	2	55143898	55143898	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:55143898C>G	ENST00000356458.6	+	25	4021	c.3501C>G	c.(3499-3501)atC>atG	p.I1167M		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1167						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TTTTTCAGATCGAGAAGATAG	0.418																																						dbGAP											0													75.0	65.0	68.0					2																	55143898		692	1591	2283	-	-	-	SO:0001583	missense	0				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.3501C>G	2.37:g.55143898C>G	ENSP00000348842:p.Ile1167Met	Somatic		WXS	Illumina GAIIx	Phase_IV	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.I1167M	ENST00000356458.6	37	c.3501	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579726	0.28180	.	.	ENSG00000214595	ENST00000356458	T	0.32515	1.45	5.68	-3.2	0.05156	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.13756	0.0333	N	0.13198	0.31	0.24700	N	0.993269	B	0.14012	0.009	B	0.12837	0.008	T	0.21724	-1.0237	9	0.51188	T	0.08	.	2.1055	0.03690	0.1086:0.2666:0.3028:0.3219	.	1167	Q6ZMW3	EMAL6_HUMAN	M	1167	ENSP00000348842:I1167M	ENSP00000348842:I1167M	I	+	3	3	EML6	54997402	0.810000	0.29049	0.902000	0.35471	0.796000	0.44982	-0.084000	0.11268	-0.696000	0.05098	-1.159000	0.01794	ATC	EML6	-	superfamily_WD40_repeat_dom	ENSG00000214595		0.418	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	95	0.00	0	C	XM_001725002		55143898	55143898	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	63	13.70	10	SNP	0.731	G
ENG	2022	genome.wustl.edu	37	9	130577980	130577980	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:130577980G>A	ENST00000373203.4	-	15	2358	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000344849.3_3'UTR|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	653					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCTGCTGGTGGAGCAGGGGGT	0.711									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													dbGAP											0													10.0	15.0	14.0					9																	130577980		1548	3550	5098	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1958C>T	9.37:g.130577980G>A	ENSP00000362299:p.Ser653Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105	p.S653F	ENST00000373203.4	37	c.1958	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877277	0.72294	.	.	ENSG00000106991	ENST00000373203;ENST00000545345;ENST00000546301	T	0.68624	-0.34	5.19	4.3	0.51218	.	0.000000	0.49916	D	0.000134	T	0.51669	0.1688	L	0.34521	1.04	0.37682	D	0.923528	B	0.31611	0.331	B	0.28709	0.093	T	0.59225	-0.7494	10	0.87932	D	0	-12.3648	7.7996	0.29166	0.1839:0.0:0.8161:0.0	.	653	P17813	EGLN_HUMAN	F	653;653;471	ENSP00000362299:S653F	ENSP00000362299:S653F	S	-	2	0	ENG	129617801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.744000	0.55112	1.424000	0.47217	0.561000	0.74099	TCC	ENG	-	NULL	ENSG00000106991		0.711	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	41	0.00	0	G			130577980	130577980	-1	no_errors	ENST00000373203	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	A
PSMB10	5699	genome.wustl.edu	37	16	67969495	67969495	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:67969495G>A	ENST00000358514.4	-	5	826	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CTC-479C5.12_ENST00000573493.1_Missense_Mutation_p.S17L	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	163					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)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	CCAGGGCTGTGAAGGGCAGAC	0.627																																						dbGAP											0													116.0	121.0	119.0					16																	67969495		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.489C>T	16.37:g.67969495G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5J4|Q5U098	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.S17L	ENST00000358514.4	37	c.50	CCDS10853.1	16																																																																																			CTC-479C5.12	-	pfam_Proteasome_sua/b	ENSG00000261884		0.627	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261884	Clone_based_vega_gene	protein_coding	OTTHUMT00000268887.1	94	0.00	0	G	NM_002801		67969495	67969495	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573493	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.974	A
ENTHD1	150350	genome.wustl.edu	37	22	40139707	40139707	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:40139707C>T	ENST00000325157.6	-	7	2051	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	601										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAGCTCCCCTCAGAAGACTGG	0.403																																						dbGAP											0													93.0	87.0	89.0					22																	40139707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1801G>A	22.37:g.40139707C>T	ENSP00000317431:p.Glu601Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.E601K	ENST00000325157.6	37	c.1801	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108118	0.37242	.	.	ENSG00000176177	ENST00000325157	T	0.41065	1.01	4.74	-1.04	0.10068	.	0.773501	0.11445	N	0.563399	T	0.26484	0.0647	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20940	-1.0260	10	0.45353	T	0.12	-4.1058	7.6811	0.28513	0.0:0.5042:0.0:0.4958	.	601	Q8IYW4	ENTD1_HUMAN	K	601	ENSP00000317431:E601K	ENSP00000317431:E601K	E	-	1	0	ENTHD1	38469653	0.002000	0.14202	0.003000	0.11579	0.038000	0.13279	0.136000	0.15974	-0.013000	0.14199	-0.150000	0.13652	GAG	ENTHD1	-	NULL	ENSG00000176177		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	128	0.00	0	C	NM_152512		40139707	40139707	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	0.000	T
EPDR1	54749	genome.wustl.edu	37	7	37960252	37960252	+	5'UTR	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:37960252G>T	ENST00000199448.4	+	0	90				EPDR1_ENST00000559325.1_Missense_Mutation_p.R24L|EPDR1_ENST00000423717.1_5'Flank|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGTGAAAACCGAAGCGGCAGA	0.622																																						dbGAP											0													23.0	27.0	26.0					7																	37960252		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-290G>T	7.37:g.37960252G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.R24L	ENST00000199448.4	37	c.71	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078126	0.20227	.	.	ENSG00000086289	ENST00000199448	.	.	.	3.48	1.64	0.23874	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.18873	N	0.999988	B	0.21520	0.057	B	0.19666	0.026	T	0.23511	-1.0186	8	0.87932	D	0	5.6084	9.5502	0.39306	0.0:0.4213:0.5787:0.0	.	24	A4D1W8	.	L	24	.	ENSP00000199448:R24L	R	+	2	0	EPDR1	37926777	0.000000	0.05858	0.006000	0.13384	0.056000	0.15407	-0.338000	0.07842	0.166000	0.19597	-1.054000	0.02325	CGA	EPDR1	-	NULL	ENSG00000086289		0.622	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	52	0.00	0	G	NM_017549		37960252	37960252	+1	no_errors	ENST00000559325	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.004	T
EPG5	57724	genome.wustl.edu	37	18	43437926	43437926	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:43437926C>G	ENST00000282041.5	-	42	7368	c.7334G>C	c.(7333-7335)cGa>cCa	p.R2445P	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2445					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGCAGAATTCGAATGACAGA	0.537																																						dbGAP											0													72.0	74.0	74.0					18																	43437926		1931	4143	6074	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7334G>C	18.37:g.43437926C>G	ENSP00000282041:p.Arg2445Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.R2445P	ENST00000282041.5	37	c.7334	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325746	0.60743	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.11930	2.73	5.64	4.77	0.60923	.	.	.	.	.	T	0.18923	0.0454	L	0.59436	1.845	0.44677	D	0.997663	P	0.46952	0.887	B	0.43360	0.417	T	0.01345	-1.1379	9	0.56958	D	0.05	-2.3657	14.3436	0.66643	0.0:0.9288:0.0:0.0712	.	2445	Q9HCE0	EPG5_HUMAN	P	2445;373;1320	ENSP00000282041:R2445P	ENSP00000282041:R2445P	R	-	2	0	EPG5	41691924	0.962000	0.33011	0.859000	0.33776	0.943000	0.58893	2.057000	0.41365	1.388000	0.46506	0.561000	0.74099	CGA	EPG5	-	NULL	ENSG00000152223		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	105	0.00	0	C	NM_020964		43437926	43437926	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	47	28.79	19	SNP	0.986	G
EPHB6	2051	genome.wustl.edu	37	7	142563760	142563760	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:142563760C>T	ENST00000392957.2	+	9	1935	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	EPHB6_ENST00000411471.2_Missense_Mutation_p.S106L|EPHB6_ENST00000442129.1_Missense_Mutation_p.S383L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	383	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCAAGGCTCAGCACTCATG	0.642																																						dbGAP											0													26.0	26.0	26.0					7																	142563760		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1148C>T	7.37:g.142563760C>T	ENSP00000376684:p.Ser383Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.S383L	ENST00000392957.2	37	c.1148	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	C	33	5.197567	0.94997	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.59638	0.25;0.25;0.25	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34507	N	0.003909	T	0.72260	0.3438	M	0.62723	1.935	0.54753	D	0.999989	D	0.59357	0.985	D	0.63283	0.913	T	0.76002	-0.3118	10	0.87932	D	0	.	17.212	0.86932	0.0:1.0:0.0:0.0	.	383	O15197	EPHB6_HUMAN	L	383;383;106	ENSP00000376684:S383L;ENSP00000410789:S383L;ENSP00000409061:S106L	ENSP00000376684:S383L	S	+	2	0	EPHB6	142273882	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	5.729000	0.68538	2.289000	0.77006	0.462000	0.41574	TCA	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000106123		0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	44	0.00	0	C			142563760	142563760	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	1.000	T
EPHB6	2051	genome.wustl.edu	37	7	142568301	142568301	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:142568301G>A	ENST00000392957.2	+	19	3607	c.2820G>A	c.(2818-2820)ctG>ctA	p.L940L	EPHB6_ENST00000411471.2_Silent_p.L663L|EPHB6_ENST00000476059.1_Intron|EPHB6_ENST00000442129.1_Silent_p.L940L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	940						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGGCCCTTCTGACCCCTGTGG	0.562																																						dbGAP											0													76.0	80.0	79.0					7																	142568301		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2820G>A	7.37:g.142568301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L940	ENST00000392957.2	37	c.2820	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000106123		0.562	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	105	0.00	0	G			142568301	142568301	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	1.000	A
EPHX4	253152	genome.wustl.edu	37	1	92515873	92515873	+	Splice_Site	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:92515873G>A	ENST00000370383.4	+	5	702		c.e5-1			NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4							integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTAATTTCAGAATATATTTT	0.313																																					GBM(140;473 1857 5172 22066 49719)	dbGAP											0													84.0	85.0	85.0					1																	92515873		2203	4295	6498	-	-	-	SO:0001630	splice_region_variant	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.605-1G>A	1.37:g.92515873G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCC6	Splice_Site	SNP	-	e5-1	ENST00000370383.4	37	c.605-1	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645486	0.87859	.	.	ENSG00000172031	ENST00000370383	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8633	0.96793	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHX4	92288461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	2.697000	0.92050	0.591000	0.81541	.	EPHX4	-	-	ENSG00000172031		0.313	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	167	0.00	0	G	NM_173567	Intron	92515873	92515873	+1	no_errors	ENST00000370383	ensembl	human	known	69_37n	splice_site	88	11.00	11	SNP	1.000	A
ERCC6	2074	genome.wustl.edu	37	10	50732269	50732269	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:50732269C>T	ENST00000355832.5	-	5	1285	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E403K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E403K|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E403K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	403					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCTTCAGCTCATAGTCAGTA	0.542								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													76.0	74.0	75.0					10																	50732269		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1207G>A	10.37:g.50732269C>T	ENSP00000348089:p.Glu403Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E403K	ENST00000355832.5	37	c.1207	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974292	0.53720	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.83837	-1.77;3.16;3.16	6.17	5.1	0.69264	.	.	.	.	.	T	0.74351	0.3705	L	0.43152	1.355	0.24081	N	0.99594	B;B	0.30824	0.296;0.007	B;B	0.26310	0.068;0.006	T	0.59690	-0.7407	9	0.11794	T	0.64	-24.6068	11.9988	0.53219	0.1252:0.8031:0.0:0.0717	.	403;403	E7EV46;Q03468	.;ERCC6_HUMAN	K	403	ENSP00000348089:E403K;ENSP00000423550:E403K;ENSP00000387966:E403K	ENSP00000348089:E403K	E	-	1	0	ERCC6;RP11-123B3.6	50402275	0.994000	0.37717	0.052000	0.19188	0.030000	0.12068	1.895000	0.39778	2.941000	0.99782	0.655000	0.94253	GAG	ERCC6	-	NULL	ENSG00000225830		0.542	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	187	0.00	0	C	NM_000124		50732269	50732269	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	0.045	T
ERCC6L	54821	genome.wustl.edu	37	X	71428542	71428542	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:71428542C>T	ENST00000334463.3	-	2	210	c.75G>A	c.(73-75)gtG>gtA	p.V25V	ERCC6L_ENST00000373657.1_5'UTR|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	25					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGGCCTCTTTCACATATCTAT	0.353																																						dbGAP											0													59.0	51.0	54.0					X																	71428542		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.75G>A	X.37:g.71428542C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V25	ENST00000334463.3	37	c.75	CCDS35329.1	X																																																																																			ERCC6L	-	pfscan_TPR-contain_dom	ENSG00000186871		0.353	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	259	0.00	0	C	NM_017669		71428542	71428542	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	silent	139	11.39	18	SNP	0.990	T
ERP27	121506	genome.wustl.edu	37	12	15087835	15087835	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:15087835C>T	ENST00000266397.2	-	3	861	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	96	Thioredoxin.					endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGTAGTGTGTCAGAACCTCAG	0.473																																						dbGAP											0													128.0	109.0	115.0					12																	15087835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.288G>A	12.37:g.15087835C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Thioredoxin-like_fold	p.L96	ENST00000266397.2	37	c.288	CCDS8670.1	12																																																																																			ERP27	-	superfamily_Thioredoxin-like_fold	ENSG00000139055		0.473	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	154	0.00	0	C	NM_152321		15087835	15087835	-1	no_errors	ENST00000266397	ensembl	human	known	69_37n	silent	89	13.59	14	SNP	0.235	T
ERV3-1	2086	genome.wustl.edu	37	7	64452642	64452642	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:64452642C>T	ENST00000394323.2	-	2	1263	c.763G>A	c.(763-765)Gag>Aag	p.E255K	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	255						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tagaatgactcaaaaactcgg	0.483																																						dbGAP											0													51.0	53.0	52.0					7																	64452642		1907	4118	6025	-	-	-	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.763G>A	7.37:g.64452642C>T	ENSP00000391594:p.Glu255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E255K	ENST00000394323.2	37	c.763	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	13.00	2.106735	0.37145	.	.	ENSG00000213462	ENST00000394323	T	0.12147	2.71	0.109	0.109	0.14578	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.20764	N	0.999852	B	0.14438	0.01	B	0.09377	0.004	T	0.36359	-0.9751	8	0.42905	T	0.14	.	.	.	.	.	255	Q14264	ENR1_HUMAN	K	255	ENSP00000391594:E255K	ENSP00000391594:E255K	E	-	1	0	ERV3-1	64090077	0.279000	0.24239	0.817000	0.32601	0.819000	0.46315	-1.040000	0.03546	0.181000	0.19994	0.184000	0.17185	GAG	ERV3-1	-	NULL	ENSG00000213462		0.483	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	102	0.00	0	C	NM_001007253		64452642	64452642	-1	no_errors	ENST00000394323	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.857	T
ESR1	2099	genome.wustl.edu	37	6	152419880	152419880	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:152419880G>C	ENST00000206249.3	+	8	1929	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	ESR1_ENST00000456483.2_Missense_Mutation_p.E411Q|ESR1_ENST00000406599.1_Missense_Mutation_p.E262Q|ESR1_ENST00000440973.1_Missense_Mutation_p.E523Q|ESR1_ENST00000443427.1_Missense_Mutation_p.E523Q|ESR1_ENST00000338799.5_Missense_Mutation_p.E523Q|ESR1_ENST00000427531.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	523	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CAAAGGCATGGAGCATCTGTA	0.562																																						dbGAP											0													92.0	82.0	86.0					6																	152419880		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1567G>C	6.37:g.152419880G>C	ENSP00000206249:p.Glu523Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E523Q	ENST00000206249.3	37	c.1567	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008254	0.93346	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.31	5.31	0.75309	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	L	0.49513	1.565	0.80722	D	1	D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;0.998;0.373;0.998;0.999	D;D;D;P;B;D;D	0.97110	1.0;0.974;0.998;0.885;0.242;0.971;0.983	D	0.98732	1.0713	10	0.72032	D	0.01	.	18.98	0.92752	0.0:0.0:1.0:0.0	.	198;88;262;450;522;523;523	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	Q	523;523;411;198;523;523;262;110;451	ENSP00000405330:E523Q;ENSP00000342630:E523Q;ENSP00000415934:E411Q;ENSP00000387500:E523Q;ENSP00000206249:E523Q;ENSP00000384064:E262Q	ENSP00000206249:E523Q	E	+	1	0	ESR1	152461573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.495000	0.84180	0.655000	0.94253	GAG	ESR1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt	ENSG00000091831		0.562	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	215	0.00	0	G			152419880	152419880	+1	no_errors	ENST00000206249	ensembl	human	known	69_37n	missense	131	13.82	21	SNP	1.000	C
EVC2	132884	genome.wustl.edu	37	4	5630358	5630358	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:5630358G>A	ENST00000344408.5	-	12	1867	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	EVC2_ENST00000310917.2_Missense_Mutation_p.S525L|EVC2_ENST00000344938.1_Missense_Mutation_p.S605L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	605					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACGGGTCTCTGATGACTGGAG	0.498																																						dbGAP											0													116.0	108.0	111.0					4																	5630358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1814C>T	4.37:g.5630358G>A	ENSP00000342144:p.Ser605Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_EVC2-like	p.S605L	ENST00000344408.5	37	c.1814	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873817	0.17322	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76060	-0.99;-0.99;-0.99	4.89	3.09	0.35607	.	0.514735	0.21517	N	0.073295	T	0.57799	0.2078	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38373	-0.9664	10	0.23891	T	0.37	-4.5964	6.0528	0.19794	0.1914:0.2638:0.5448:0.0	.	605	Q86UK5	LBN_HUMAN	L	605;525;605	ENSP00000339954:S605L;ENSP00000311683:S525L;ENSP00000342144:S605L	ENSP00000311683:S525L	S	-	2	0	EVC2	5681259	0.002000	0.14202	0.099000	0.21106	0.945000	0.59286	0.737000	0.26144	1.162000	0.42619	0.484000	0.47621	TCA	EVC2	-	pfam_EVC2-like	ENSG00000173040		0.498	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	159	0.00	0	G	NM_147127		5630358	5630358	-1	no_errors	ENST00000344408	ensembl	human	known	69_37n	missense	96	12.73	14	SNP	0.010	A
EVC2	132884	genome.wustl.edu	37	4	5667277	5667277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:5667277G>A	ENST00000344408.5	-	8	1023	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	EVC2_ENST00000310917.2_Nonsense_Mutation_p.Q244*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.Q324*	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	324					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCAGACACTGATAGCGAACC	0.567																																						dbGAP											0													147.0	100.0	116.0					4																	5667277		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.970C>T	4.37:g.5667277G>A	ENSP00000342144:p.Gln324*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YT3|Q86YT4|Q8NG49	Nonsense_Mutation	SNP	pfam_EVC2-like	p.Q324*	ENST00000344408.5	37	c.970	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	42	9.181391	0.99092	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	.	.	.	5.42	2.74	0.32292	.	0.604659	0.16088	N	0.230197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-3.4819	4.2244	0.10574	0.0857:0.1577:0.593:0.1635	.	.	.	.	X	324;244;324	.	ENSP00000311683:Q244X	Q	-	1	0	EVC2	5718178	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.497000	0.22514	0.260000	0.21731	0.462000	0.41574	CAG	EVC2	-	pfam_EVC2-like	ENSG00000173040		0.567	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	160	0.00	0	G	NM_147127		5667277	5667277	-1	no_errors	ENST00000344408	ensembl	human	known	69_37n	nonsense	80	13.98	13	SNP	0.000	A
EXOC4	60412	genome.wustl.edu	37	7	133622768	133622768	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:133622768G>C	ENST00000253861.4	+	14	2181	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q	EXOC4_ENST00000545148.1_Missense_Mutation_p.E328Q|EXOC4_ENST00000539845.1_Missense_Mutation_p.E617Q|EXOC4_ENST00000541309.1_Missense_Mutation_p.E6Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	718					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGAAAGCCTGGAATGGTTGGC	0.458																																						dbGAP											0													129.0	112.0	117.0					7																	133622768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2152G>C	7.37:g.133622768G>C	ENSP00000253861:p.Glu718Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.E718Q	ENST00000253861.4	37	c.2152	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.325704	0.95708	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.985	D;D;P	0.80764	0.982;0.994;0.789	T	0.78892	-0.2025	9	0.59425	D	0.04	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	250;328;718	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	Q	718;337;617;328;6	.	ENSP00000253861:E718Q	E	+	1	0	EXOC4	133273308	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.755000	0.98912	2.797000	0.96272	0.561000	0.74099	GAA	EXOC4	-	NULL	ENSG00000131558		0.458	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	226	0.00	0	G	NM_021807		133622768	133622768	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	missense	129	16.77	26	SNP	1.000	C
EXOC4	60412	genome.wustl.edu	37	7	133682259	133682259	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:133682259C>G	ENST00000253861.4	+	15	2250	c.2221C>G	c.(2221-2223)Caa>Gaa	p.Q741E	EXOC4_ENST00000545148.1_Missense_Mutation_p.Q351E|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q640E|EXOC4_ENST00000541309.1_Missense_Mutation_p.Q29E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	741					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTCTCCTGCTCAAGACAGCCA	0.443																																						dbGAP											0													119.0	99.0	105.0					7																	133682259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2221C>G	7.37:g.133682259C>G	ENSP00000253861:p.Gln741Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.Q741E	ENST00000253861.4	37	c.2221	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069605	0.07228	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.43	5.43	0.79202	.	0.300312	0.34156	N	0.004206	T	0.32133	0.0819	N	0.14661	0.345	0.34676	D	0.724183	B;B;B	0.23937	0.004;0.071;0.094	B;B;B	0.27076	0.003;0.076;0.016	T	0.29882	-0.9997	9	0.05620	T	0.96	.	12.2573	0.54631	0.0:0.9218:0.0:0.0782	.	273;351;741	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	E	741;360;640;351;29	.	ENSP00000253861:Q741E	Q	+	1	0	EXOC4	133332799	1.000000	0.71417	0.996000	0.52242	0.685000	0.39939	5.471000	0.66762	2.549000	0.85964	0.655000	0.94253	CAA	EXOC4	-	NULL	ENSG00000131558		0.443	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	105	0.00	0	C	NM_021807		133682259	133682259	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	1.000	G
EXPH5	23086	genome.wustl.edu	37	11	108384453	108384453	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:108384453G>C	ENST00000265843.4	-	6	1891	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.S406C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S587C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S518C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	594					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAACTCACTAGATTTGACGTG	0.423																																						dbGAP											0													101.0	95.0	97.0					11																	108384453		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1781C>G	11.37:g.108384453G>C	ENSP00000265843:p.Ser594Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.S594C	ENST00000265843.4	37	c.1781	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925595	0.52759	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04758	4.17;4.1;3.95;4.17;4.02;3.56	5.62	3.73	0.42828	.	0.959152	0.08632	N	0.916912	T	0.15652	0.0377	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	D	0.63113	0.911	T	0.14531	-1.0469	10	0.66056	D	0.02	-1.0121	8.328	0.32169	0.1563:0.0:0.8437:0.0	.	594	Q8NEV8	EXPH5_HUMAN	C	594;518;406;587;438;518;406	ENSP00000265843:S594C;ENSP00000391966:S518C;ENSP00000411390:S406C;ENSP00000432546:S587C;ENSP00000432683:S518C;ENSP00000446434:S406C	ENSP00000265843:S594C	S	-	2	0	EXPH5	107889663	0.014000	0.17966	0.006000	0.13384	0.003000	0.03518	2.028000	0.41088	2.647000	0.89833	0.467000	0.42956	TCT	EXPH5	-	NULL	ENSG00000110723		0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	111	0.00	0	G	NM_015065		108384453	108384453	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	0.001	C
EXT1	2131	genome.wustl.edu	37	8	118811984	118811984	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:118811984C>T	ENST00000378204.2	-	11	3014	c.2208G>A	c.(2206-2208)ttG>ttA	p.L736L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	736					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATTTCTTCCTCAAAATAGAGA	0.532			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													91.0	86.0	88.0					8																	118811984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2208G>A	8.37:g.118811984C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.L736	ENST00000378204.2	37	c.2208	CCDS6324.1	8																																																																																			EXT1	-	NULL	ENSG00000182197		0.532	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	134	0.00	0	C	NM_000127		118811984	118811984	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	silent	121	17.69	26	SNP	1.000	T
F10	2159	genome.wustl.edu	37	13	113803435	113803435	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:113803435G>A	ENST00000375559.3	+	8	1109	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	357	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TGACGCAGAAGACGGGGATTG	0.667																																						dbGAP											0													59.0	51.0	54.0					13																	113803435		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1071G>A	13.37:g.113803435G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14340	Silent	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.K357	ENST00000375559.3	37	c.1071	CCDS9530.1	13																																																																																			F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000126218		0.667	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	34	0.00	0	G			113803435	113803435	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	0.002	A
FAAH	2166	genome.wustl.edu	37	1	46874946	46874946	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:46874946G>A	ENST00000243167.8	+	9	1259					NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase						fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AGGGTGTGGTGATGCCTGGAT	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1175+76G>A	1.37:g.46874946G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ19|Q52M86|Q5TDF8	RNA	SNP	-	NULL	ENST00000243167.8	37	NULL	CCDS535.1	1																																																																																			FAAH	-	-	ENSG00000117480		0.587	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	118	0.00	0	G	NM_001441		46874946	46874946	+1	no_errors	ENST00000489366	ensembl	human	known	69_37n	rna	67	10.53	8	SNP	0.005	A
FAF2	23197	genome.wustl.edu	37	5	175875421	175875421	+	Missense_Mutation	SNP	G	G	C	rs184408647	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:175875421G>C	ENST00000261942.6	+	1	66	c.13G>C	c.(13-15)Gag>Cag	p.E5Q		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	5					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GGCGGCGCCTGAGGAGCGGGA	0.637											OREG0017076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0.0	5008	,	,		11278	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													30.0	31.0	30.0					5																	175875421		2189	4291	6480	-	-	-	SO:0001583	missense	0			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.13G>C	5.37:g.175875421G>C	ENSP00000261942:p.Glu5Gln	Somatic	1926	WXS	Illumina GAIIx	Phase_IV	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX	p.E5Q	ENST00000261942.6	37	c.13	CCDS34296.1	5	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.1	3.936896	0.73557	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	5.06	5.06	0.68205	.	0.098214	0.64402	D	0.000002	T	0.58878	0.2153	L	0.50333	1.59	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.54357	-0.8306	9	0.35671	T	0.21	-9.102	18.2212	0.89902	0.0:0.0:1.0:0.0	.	5	Q96CS3	FAF2_HUMAN	Q	5	.	ENSP00000261942:E5Q	E	+	1	0	FAF2	175808027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.782000	0.68973	2.632000	0.89209	0.603000	0.83216	GAG	FAF2	-	NULL	ENSG00000113194		0.637	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	HGNC	protein_coding	OTTHUMT00000372194.1	44	0.00	0	G	NM_014613		175875421	175875421	+1	no_errors	ENST00000261942	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	C
FAH	2184	genome.wustl.edu	37	15	80467429	80467429	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:80467429G>A	ENST00000407106.1	+	11	1064	c.909G>A	c.(907-909)ctG>ctA	p.L303L	FAH_ENST00000261755.5_Silent_p.L303L|FAH_ENST00000561421.1_Silent_p.L303L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Silent_p.L233L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	303					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.L303L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTTAACCTGAAAGGTATGT	0.562									Tyrosinemia, type 1																													dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											157.0	132.0	140.0					15																	80467429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.909G>A	15.37:g.80467429G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.E3K	ENST00000407106.1	37	c.7	CCDS10314.1	15																																																																																			FAH	-	superfamily_Fumarylacetoacetase_C-rel	ENSG00000103876		0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	144	0.69	1	G			80467429	80467429	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561353	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.915	A
FAM114A2	10827	genome.wustl.edu	37	5	153409138	153409138	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:153409138C>G	ENST00000351797.4	-	5	482	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	FAM114A2_ENST00000520667.1_Missense_Mutation_p.E136Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E66Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E136Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	136							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GCATTTGTCTCTCCTACAAGA	0.428																																						dbGAP											0													96.0	85.0	89.0					5																	153409138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.406G>C	5.37:g.153409138C>G	ENSP00000341597:p.Glu136Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.E136Q	ENST00000351797.4	37	c.406	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530328	0.45073	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000520313;ENST00000522395;ENST00000523705	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.33	4.46	0.54185	.	0.930757	0.09165	N	0.839695	T	0.35653	0.0939	N	0.11000	0.08	0.31592	N	0.653812	P;P	0.44521	0.837;0.837	P;P	0.48400	0.576;0.502	T	0.29397	-1.0013	10	0.41790	T	0.15	-1.0842	5.352	0.16040	0.0:0.6403:0.1779:0.1818	.	66;136	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Q	136;136;136;136;66;136;136	ENSP00000341597:E136Q;ENSP00000430489:E136Q;ENSP00000430384:E136Q;ENSP00000429088:E66Q;ENSP00000430186:E136Q;ENSP00000428827:E136Q	ENSP00000341597:E136Q	E	-	1	0	FAM114A2	153389331	0.960000	0.32886	0.660000	0.29694	0.704000	0.40688	1.676000	0.37565	1.371000	0.46172	0.313000	0.20887	GAG	FAM114A2	-	pfam_DUF719	ENSG00000055147		0.428	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	198	0.00	0	C	NM_018691		153409138	153409138	-1	no_errors	ENST00000351797	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	0.738	G
FAM118B	79607	genome.wustl.edu	37	11	126110856	126110856	+	Missense_Mutation	SNP	G	G	A	rs530676295		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:126110856G>A	ENST00000533050.1	+	4	749	c.256G>A	c.(256-258)Gag>Aag	p.E86K	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000529731.1_Missense_Mutation_p.E86K|FAM118B_ENST00000360194.4_Missense_Mutation_p.E86K	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	86										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGAAGATGAGGAGAGCAAAAA	0.463																																						dbGAP											0													143.0	150.0	148.0					11																	126110856		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.256G>A	11.37:g.126110856G>A	ENSP00000433343:p.Glu86Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7B0	Missense_Mutation	SNP	NULL	p.E86K	ENST00000533050.1	37	c.256	CCDS8470.1	11	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021092	0.93462	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.53857	1.38;1.38;0.6;1.37;0.67;0.61	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.14661	0.345	0.80722	D	1	D;P;P	0.67145	0.996;0.808;0.895	D;B;B	0.76071	0.987;0.287;0.428	T	0.49103	-0.8974	10	0.12103	T	0.63	-23.249	20.6721	0.99693	0.0:0.0:1.0:0.0	.	86;86;86	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	K	86	ENSP00000433343:E86K;ENSP00000434952:E86K;ENSP00000432712:E86K;ENSP00000353321:E86K;ENSP00000437285:E86K;ENSP00000435754:E86K	ENSP00000353321:E86K	E	+	1	0	FAM118B	125616066	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.715000	0.98748	2.894000	0.99253	0.591000	0.81541	GAG	FAM118B	-	NULL	ENSG00000197798		0.463	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM118B	HGNC	protein_coding	OTTHUMT00000386346.1	104	0.00	0	G	NM_024556		126110856	126110856	+1	no_errors	ENST00000533050	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	A
FAM149B1	317662	genome.wustl.edu	37	10	74934488	74934488	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:74934488G>C	ENST00000242505.6	+	2	265	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1	31										breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						TCCCCCTCCAGAGAAGCTGGA	0.363																																						dbGAP											0													80.0	71.0	74.0					10																	74934488		692	1591	2283	-	-	-	SO:0001583	missense	0			AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.91G>C	10.37:g.74934488G>C	ENSP00000242505:p.Glu31Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y2I0	Missense_Mutation	SNP	pfam_DUF3719	p.E31Q	ENST00000242505.6	37	c.91	CCDS44435.1	10	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057933	0.36277	.	.	ENSG00000138286	ENST00000242505	T	0.15718	2.4	5.35	5.35	0.76521	.	0.051725	0.85682	D	0.000000	T	0.24547	0.0595	M	0.68952	2.095	0.47819	D	0.999527	P	0.38250	0.624	B	0.39706	0.307	T	0.01781	-1.1275	10	0.66056	D	0.02	-3.3655	14.9054	0.70715	0.0:0.0:1.0:0.0	.	31	Q96BN6	F149B_HUMAN	Q	31	ENSP00000242505:E31Q	ENSP00000242505:E31Q	E	+	1	0	FAM149B1	74604494	1.000000	0.71417	0.987000	0.45799	0.072000	0.16883	5.067000	0.64357	2.660000	0.90430	0.591000	0.81541	GAG	FAM149B1	-	NULL	ENSG00000138286		0.363	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM149B1	HGNC	protein_coding	OTTHUMT00000145438.1	143	0.00	0	G	NM_173348		74934488	74934488	+1	no_errors	ENST00000242505	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	0.998	C
FAM159B	100132916	genome.wustl.edu	37	5	63991346	63991346	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:63991346G>C	ENST00000389074.5	+	2	520	c.204G>C	c.(202-204)ttG>ttC	p.L68F	FAM159B_ENST00000512767.1_3'UTR	NM_001164442.1	NP_001157914.1	A6NKW6	F159B_HUMAN	family with sequence similarity 159, member B	68						integral component of membrane (GO:0016021)											TTGGTGCCTTGATTGGACTAG	0.368																																						dbGAP											0													244.0	182.0	201.0					5																	63991346		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47220.1	5q12.3	2010-02-17			ENSG00000145642	ENSG00000145642			34236	protein-coding gene	gene with protein product							Standard	NM_001164442		Approved		uc021xzg.1	A6NKW6	OTTHUMG00000162292	ENST00000389074.5:c.204G>C	5.37:g.63991346G>C	ENSP00000373726:p.Leu68Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L68F	ENST00000389074.5	37	c.204	CCDS47220.1	5	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544888	0.65198	.	.	ENSG00000145642	ENST00000389074	T	0.37915	1.17	5.64	3.82	0.43975	.	0.076502	0.53938	D	0.000056	T	0.49864	0.1582	M	0.73962	2.25	0.43902	D	0.996539	.	.	.	.	.	.	T	0.49899	-0.8890	8	0.72032	D	0.01	-6.5997	9.1511	0.36965	0.081:0.1483:0.7707:0.0	.	.	.	.	F	68	ENSP00000373726:L68F	ENSP00000373726:L68F	L	+	3	2	FAM159B	64027102	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	1.939000	0.40213	0.728000	0.32382	0.485000	0.47835	TTG	FAM159B	-	NULL	ENSG00000145642		0.368	FAM159B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM159B	HGNC	protein_coding	OTTHUMT00000368460.2	361	0.00	0	G	XM_001720158		63991346	63991346	+1	no_errors	ENST00000389074	ensembl	human	known	69_37n	missense	179	10.50	21	SNP	1.000	C
FAM160A2	84067	genome.wustl.edu	37	11	6244989	6244989	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:6244989G>C	ENST00000449352.2	-	3	891	c.628C>G	c.(628-630)Ctt>Gtt	p.L210V	FAM160A2_ENST00000265978.4_Missense_Mutation_p.L210V|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L210V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	210					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGAGAAGAAGACGGGGAGCG	0.587																																						dbGAP											0													85.0	102.0	96.0					11																	6244989		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.628C>G	11.37:g.6244989G>C	ENSP00000416918:p.Leu210Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.L210V	ENST00000449352.2	37	c.628	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501561	0.64298	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.29655	1.56;1.56;1.56	5.1	5.1	0.69264	.	0.070059	0.64402	D	0.000017	T	0.48223	0.1488	L	0.50333	1.59	0.43593	D	0.995941	D;D;D	0.65815	0.969;0.974;0.995	P;P;P	0.61800	0.855;0.81;0.894	T	0.42783	-0.9431	10	0.59425	D	0.04	-23.2752	17.6783	0.88236	0.0:0.0:1.0:0.0	.	210;210;210	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	V	210;135;210;210	ENSP00000416918:L210V;ENSP00000265978:L210V;ENSP00000431773:L210V	ENSP00000265978:L210V	L	-	1	0	FAM160A2	6201565	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.772000	0.47678	2.671000	0.90904	0.655000	0.94253	CTT	FAM160A2	-	pfam_RetinoicA-induced_16-like	ENSG00000051009		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	55	0.00	0	G	NM_032127		6244989	6244989	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	C
FAM184B	27146	genome.wustl.edu	37	4	17654468	17654468	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:17654468G>C	ENST00000265018.3	-	11	2388	c.2176C>G	c.(2176-2178)Cag>Gag	p.Q726E		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	726										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						AGCAGGGCCTGCTGTGCCTGC	0.597																																						dbGAP											0													121.0	103.0	108.0					4																	17654468		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2176C>G	4.37:g.17654468G>C	ENSP00000265018:p.Gln726Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q726E	ENST00000265018.3	37	c.2176	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	g	14.32	2.500560	0.44455	.	.	ENSG00000047662	ENST00000265018	T	0.32988	1.43	4.72	4.72	0.59763	.	0.330545	0.31772	N	0.007095	T	0.22126	0.0533	L	0.39898	1.24	0.26872	N	0.967737	P	0.39181	0.663	B	0.35278	0.199	T	0.29027	-1.0025	10	0.02654	T	1	-16.0984	16.6019	0.84818	0.0:0.0:1.0:0.0	.	726	Q9ULE4	F184B_HUMAN	E	726	ENSP00000265018:Q726E	ENSP00000265018:Q726E	Q	-	1	0	FAM184B	17263566	1.000000	0.71417	0.972000	0.41901	0.968000	0.65278	5.597000	0.67577	2.436000	0.82500	0.558000	0.71614	CAG	FAM184B	-	NULL	ENSG00000047662		0.597	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	247	0.00	0	G	NM_015688		17654468	17654468	-1	no_errors	ENST00000265018	ensembl	human	known	69_37n	missense	146	11.52	19	SNP	1.000	C
FAM184B	27146	genome.wustl.edu	37	4	17782862	17782862	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:17782862C>G	ENST00000265018.3	-	1	273	c.61G>C	c.(61-63)Gac>Cac	p.D21H		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	21										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GCGCCACCGTCGGCTTTGGAG	0.587																																						dbGAP											0													44.0	46.0	46.0					4																	17782862		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.61G>C	4.37:g.17782862C>G	ENSP00000265018:p.Asp21His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D21H	ENST00000265018.3	37	c.61	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532394	0.27387	.	.	ENSG00000047662	ENST00000265018	T	0.34072	1.38	4.12	4.12	0.48240	.	0.222782	0.28784	N	0.014153	T	0.42698	0.1214	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.19095	-1.0316	10	0.54805	T	0.06	-7.4952	11.758	0.51886	0.0:1.0:0.0:0.0	.	21	Q9ULE4	F184B_HUMAN	H	21	ENSP00000265018:D21H	ENSP00000265018:D21H	D	-	1	0	FAM184B	17391960	0.994000	0.37717	0.275000	0.24674	0.127000	0.20565	1.769000	0.38522	2.117000	0.64856	0.655000	0.94253	GAC	FAM184B	-	NULL	ENSG00000047662		0.587	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	78	0.00	0	C	NM_015688		17782862	17782862	-1	no_errors	ENST00000265018	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	0.010	G
ERICH6B	220081	genome.wustl.edu	37	13	46154110	46154110	+	Splice_Site	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:46154110C>G	ENST00000298738.2	-	7	1084		c.e7-1			NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN												breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TTAACATGCTCTAAAAAAGAA	0.353																																						dbGAP											0													101.0	98.0	99.0					13																	46154110		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000298738.2:c.920-1G>C	13.37:g.46154110C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MB5	Splice_Site	SNP	-	e5-1	ENST00000298738.2	37	c.920-1	CCDS45045.1	13	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083363	0.20309	.	.	ENSG00000165837	ENST00000298738	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3423	0.49539	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM194B	45052111	0.466000	0.25823	0.205000	0.23548	0.006000	0.05464	1.515000	0.35845	2.379000	0.81126	0.563000	0.77884	.	FAM194B	-	-	ENSG00000165837		0.353	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	214	0.00	0	C		Intron	46154110	46154110	-1	no_errors	ENST00000298738	ensembl	human	known	69_37n	splice_site	105	15.32	19	SNP	0.298	G
FAM199X	139231	genome.wustl.edu	37	X	103420342	103420342	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:103420342C>T	ENST00000493442.1	+	2	402	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	79										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTTGCCAGCTCAGAAGGCAGT	0.378																																						dbGAP											0													191.0	154.0	167.0					X																	103420342		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.236C>T	X.37:g.103420342C>T	ENSP00000417581:p.Ser79Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.S79L	ENST00000493442.1	37	c.236	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117279	0.77323	.	.	ENSG00000123575	ENST00000493442	T	0.47528	0.84	4.82	4.82	0.62117	.	0.067619	0.64402	D	0.000007	T	0.62478	0.2431	L	0.54323	1.7	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.61603	-0.7029	9	.	.	.	-5.5498	16.3763	0.83401	0.0:1.0:0.0:0.0	.	79	Q6PEV8	F199X_HUMAN	L	79	ENSP00000417581:S79L	.	S	+	2	0	FAM199X	103306998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.152000	0.67230	0.594000	0.82650	TCA	FAM199X	-	NULL	ENSG00000123575		0.378	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	462	0.00	0	C	NM_207318		103420342	103420342	+1	no_errors	ENST00000493442	ensembl	human	known	69_37n	missense	188	16.44	37	SNP	1.000	T
UBA7	7318	genome.wustl.edu	37	3	49840825	49840825	+	IGR	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:49840825C>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.D2E	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGCATGGACATGCACAGCG	0.692																																						dbGAP											0													33.0	32.0	32.0					3																	49840825		2184	4285	6469	-	-	-	SO:0001628	intergenic_variant	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49840825C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRB2	Missense_Mutation	SNP	NULL	p.D2E	ENST00000333486.3	37	c.6	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890952	0.52014	.	.	ENSG00000185614	ENST00000333323	.	.	.	4.91	0.0302	0.14165	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.22156	N	0.999329	.	.	.	.	.	.	T	0.38908	-0.9639	5	0.87932	D	0	.	5.3128	0.15839	0.2924:0.519:0.0:0.1885	.	.	.	.	E	2	.	ENSP00000329735:D2E	D	+	3	2	C3orf54	49815829	0.058000	0.20735	0.706000	0.30403	0.670000	0.39368	-0.974000	0.03794	0.102000	0.17638	-0.293000	0.09583	GAC	FAM212A	-	NULL	ENSG00000185614		0.692	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM212A	HGNC	protein_coding	OTTHUMT00000350503.1	70	0.00	0	C	NM_003335		49840825	49840825	+1	no_errors	ENST00000333323	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.565	A
GAREML	150946	genome.wustl.edu	37	2	26399224	26399224	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:26399224G>A	ENST00000401533.2	+	2	254	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	42	CABIT.					extracellular vesicular exosome (GO:0070062)											GGAGTACGCCGAGGGCGTCAG	0.592																																						dbGAP											0													48.0	45.0	46.0					2																	26399224		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.124G>A	2.37:g.26399224G>A	ENSP00000384593:p.Glu42Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC97|B7WNK9|Q8NF27|Q9UIK8	Missense_Mutation	SNP	superfamily_SAM/pointed	p.E42K	ENST00000401533.2	37	c.124	CCDS54336.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.410363	0.96072	.	.	ENSG00000157833	ENST00000401533	T	0.15952	2.38	4.94	4.94	0.65067	.	0.239177	0.32952	N	0.005446	T	0.38719	0.1051	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.18967	-1.0320	10	0.66056	D	0.02	-21.151	16.7116	0.85387	0.0:0.0:1.0:0.0	.	42	Q75VX8	FA59B_HUMAN	K	42	ENSP00000384593:E42K	ENSP00000384593:E42K	E	+	1	0	FAM59B	26252728	1.000000	0.71417	0.939000	0.37840	0.789000	0.44602	9.298000	0.96132	2.287000	0.76781	0.462000	0.41574	GAG	FAM59B	-	NULL	ENSG00000157833		0.592	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM59B	HGNC	protein_coding	OTTHUMT00000324498.2	71	0.00	0	G	NM_001168241		26399224	26399224	+1	no_errors	ENST00000401533	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	A
FAM65B	9750	genome.wustl.edu	37	6	24818812	24818812	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:24818812G>C	ENST00000259698.4	-	21	3148	c.2973C>G	c.(2971-2973)ctC>ctG	p.L991L	FAM65B_ENST00000538035.1_Silent_p.L970L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	991					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTGGAGCTGGAGGTTTGTCT	0.502																																						dbGAP											0													92.0	82.0	85.0					6																	24818812		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2973C>G	6.37:g.24818812G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	superfamily_ARM-type_fold	p.L991	ENST00000259698.4	37	c.2973	CCDS47383.1	6																																																																																			FAM65B	-	superfamily_ARM-type_fold	ENSG00000111913		0.502	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	152	0.00	0	G			24818812	24818812	-1	no_errors	ENST00000259698	ensembl	human	known	69_37n	silent	112	16.42	22	SNP	0.007	C
FAM83A	84985	genome.wustl.edu	37	8	124195425	124195425	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:124195425C>T	ENST00000518448.1	+	2	2343	c.329C>T	c.(328-330)tCa>tTa	p.S110L	FAM83A_ENST00000276699.6_Missense_Mutation_p.S110L|FAM83A_ENST00000318462.6_Missense_Mutation_p.S110L|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000522648.1_Missense_Mutation_p.S110L|FAM83A_ENST00000546351.1_Missense_Mutation_p.S110L|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.S110L			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	110										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCTGTGGCCTCAGAGGGCAGC	0.642																																						dbGAP											0													59.0	63.0	61.0					8																	124195425		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.329C>T	8.37:g.124195425C>T	ENSP00000428876:p.Ser110Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	pfam_DUF1669	p.S110L	ENST00000518448.1	37	c.329	CCDS6340.1	8	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337680	0.81911	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.31247	1.57;1.5;1.57;1.57;1.5;1.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.90198	3.095	0.50813	D	0.99989	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.955;0.951;0.985	T	0.72228	-0.4354	10	0.66056	D	0.02	-14.4032	19.2957	0.94120	0.0:1.0:0.0:0.0	.	110;110;110	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	L	110	ENSP00000428876:S110L;ENSP00000440565:S110L;ENSP00000445218:S110L;ENSP00000323034:S110L;ENSP00000427979:S110L;ENSP00000276699:S110L	ENSP00000276699:S110L	S	+	2	0	FAM83A	124264606	1.000000	0.71417	0.870000	0.34147	0.263000	0.26337	5.486000	0.66856	2.548000	0.85928	0.561000	0.74099	TCA	FAM83A	-	pfam_DUF1669	ENSG00000147689		0.642	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	HGNC	protein_coding	OTTHUMT00000381737.1	18	0.00	0	C	NM_032899		124195425	124195425	+1	no_errors	ENST00000318462	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.943	T
FAM83D	81610	genome.wustl.edu	37	20	37580527	37580527	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:37580527C>T	ENST00000217429.4	+	4	1253	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	374					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAGACTACTTCAGCAGCCACA	0.597																																						dbGAP											0													34.0	39.0	38.0					20																	37580527		2114	4232	6346	-	-	-	SO:0001819	synonymous_variant	0			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1212C>T	20.37:g.37580527C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	pfam_DUF1669	p.F404	ENST00000217429.4	37	c.1212	CCDS42872.1	20																																																																																			FAM83D	-	NULL	ENSG00000101447		0.597	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83D	HGNC	protein_coding	OTTHUMT00000079211.1	66	0.00	0	C			37580527	37580527	+1	no_errors	ENST00000217429	ensembl	human	known	69_37n	silent	40	16.33	8	SNP	0.000	T
FAP	2191	genome.wustl.edu	37	2	163039979	163039979	+	Splice_Site	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:163039979C>G	ENST00000188790.4	-	21	2022		c.e21-1		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATGAATTTTCTAAAGTAAAA	0.284																																						dbGAP											0													56.0	63.0	61.0					2																	163039979		2201	4295	6496	-	-	-	SO:0001630	splice_region_variant	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1815-1G>C	2.37:g.163039979C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e21-1	ENST00000188790.4	37	c.1815-1	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709860	0.48517	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9507	0.97198	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162748225	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.309000	0.78937	2.763000	0.94921	0.655000	0.94253	.	FAP	-	-	ENSG00000078098		0.284	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	166	0.00	0	C		Intron	163039979	163039979	-1	no_errors	ENST00000188790	ensembl	human	known	69_37n	splice_site	79	15.05	14	SNP	1.000	G
FARS2	10667	genome.wustl.edu	37	6	5368981	5368981	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:5368981C>G	ENST00000324331.6	+	2	514	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	FARS2_ENST00000274680.4_Missense_Mutation_p.Q60E			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	60					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATCCTACCCTCAGGACGACCA	0.612																																						dbGAP											0													73.0	59.0	64.0					6																	5368981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.178C>G	6.37:g.5368981C>G	ENSP00000316335:p.Gln60Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.Q60E	ENST00000324331.6	37	c.178	CCDS4494.1	6	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484242	0.26598	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.53640	0.61;0.61	5.45	5.45	0.79879	.	0.267583	0.37136	N	0.002232	T	0.16128	0.0388	L	0.27053	0.805	0.29627	N	0.84575	B	0.20261	0.043	B	0.15484	0.013	T	0.11743	-1.0575	10	0.02654	T	1	-9.7694	18.6303	0.91358	0.0:1.0:0.0:0.0	.	60	O95363	SYFM_HUMAN	E	60	ENSP00000274680:Q60E;ENSP00000316335:Q60E	ENSP00000274680:Q60E	Q	+	1	0	FARS2	5313980	0.989000	0.36119	0.898000	0.35279	0.972000	0.66771	4.461000	0.60115	2.713000	0.92767	0.655000	0.94253	CAG	FARS2	-	NULL	ENSG00000145982		0.612	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	42	0.00	0	C	NM_006567		5368981	5368981	+1	no_errors	ENST00000274680	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.939	G
FARS2	10667	genome.wustl.edu	37	6	5404833	5404833	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:5404833C>T	ENST00000324331.6	+	3	1007	c.671C>T	c.(670-672)tCt>tTt	p.S224F	FARS2_ENST00000274680.4_Missense_Mutation_p.S224F			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	224					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AGTTCTCGCTCTGCGCATAAA	0.418																																						dbGAP											0													100.0	103.0	102.0					6																	5404833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.671C>T	6.37:g.5404833C>T	ENSP00000316335:p.Ser224Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.S224F	ENST00000324331.6	37	c.671	CCDS4494.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088218	0.76642	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533	T;T;T	0.54479	0.57;0.57;0.57	5.32	4.43	0.53597	Aminoacyl-tRNA synthetase, class II (1);	0.130838	0.51477	D	0.000093	T	0.53867	0.1823	L	0.53249	1.67	0.48696	D	0.999699	D	0.59357	0.985	P	0.60236	0.871	T	0.57300	-0.7835	10	0.48119	T	0.1	-8.2952	14.4669	0.67490	0.0:0.8516:0.1484:0.0	.	224	O95363	SYFM_HUMAN	F	224;74;224;20	ENSP00000274680:S224F;ENSP00000316335:S224F;ENSP00000392525:S20F	ENSP00000274680:S224F	S	+	2	0	FARS2	5349832	0.999000	0.42202	0.727000	0.30756	0.843000	0.47879	4.715000	0.61909	1.188000	0.43014	0.563000	0.77884	TCT	FARS2	-	pfscan_aa-tRNA-synth_II	ENSG00000145982		0.418	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	166	0.00	0	C	NM_006567		5404833	5404833	+1	no_errors	ENST00000274680	ensembl	human	known	69_37n	missense	88	10.20	10	SNP	1.000	T
FBXO34	55030	genome.wustl.edu	37	14	55818482	55818482	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:55818482C>T	ENST00000313833.4	+	2	1619	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	FBXO34_ENST00000440021.1_Silent_p.I458I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	458										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GCATTAGTATCACTGTGTCCA	0.438																																						dbGAP											0													131.0	124.0	126.0					14																	55818482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1374C>T	14.37:g.55818482C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I458	ENST00000313833.4	37	c.1374	CCDS32086.1	14																																																																																			FBXO34	-	NULL	ENSG00000178974		0.438	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	115	0.00	0	C			55818482	55818482	+1	no_errors	ENST00000313833	ensembl	human	known	69_37n	silent	75	11.76	10	SNP	0.979	T
FCHSD2	9873	genome.wustl.edu	37	11	72712106	72712106	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:72712106C>G	ENST00000409418.4	-	5	699	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E50Q|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E50Q|FCHSD2_ENST00000409314.1_Missense_Mutation_p.E106Q	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	106										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTATAGTTTTCACATATATTC	0.373																																						dbGAP											0													70.0	68.0	69.0					11																	72712106		2200	4292	6492	-	-	-	SO:0001583	missense	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.316G>C	11.37:g.72712106C>G	ENSP00000386722:p.Glu106Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.E106Q	ENST00000409418.4	37	c.316	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866679	0.91511	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409853;ENST00000422375	T;T;T;T;T	0.20069	2.33;2.1;2.1;2.1;2.1	5.97	5.97	0.96955	Fps/Fes/Fer/CIP4 homology (1);	0.145904	0.64402	D	0.000010	T	0.43144	0.1234	M	0.76170	2.325	0.58432	D	0.999998	P;P	0.51537	0.946;0.933	P;P	0.54060	0.741;0.623	T	0.25187	-1.0139	10	0.72032	D	0.01	-24.7176	19.4017	0.94632	0.0:1.0:0.0:0.0	.	106;50	O94868;O94868-3	FCSD2_HUMAN;.	Q	50;106;106;50;85	ENSP00000308978:E50Q;ENSP00000386987:E106Q;ENSP00000386722:E106Q;ENSP00000386314:E50Q;ENSP00000408706:E85Q	ENSP00000308978:E50Q	E	-	1	0	FCHSD2	72389754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.628000	0.74262	2.835000	0.97688	0.591000	0.81541	GAA	FCHSD2	-	pfam_FCH,smart_FCH	ENSG00000137478		0.373	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	191	0.00	0	C	NM_014824		72712106	72712106	-1	no_errors	ENST00000409418	ensembl	human	known	69_37n	missense	91	14.02	15	SNP	1.000	G
FCRL2	79368	genome.wustl.edu	37	1	157737322	157737322	+	Intron	SNP	C	C	T	rs147750880		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:157737322C>T	ENST00000361516.3	-	6	932				FCRL2_ENST00000469986.1_Silent_p.L34L|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2						cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGGGGCTATCAGAAAAGATT	0.557																																						dbGAP											0													64.0	69.0	67.0					1																	157737322		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.884-23G>A	1.37:g.157737322C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfscan_Ig-like	p.L34	ENST00000361516.3	37	c.102	CCDS1168.1	1																																																																																			FCRL2	-	NULL	ENSG00000132704		0.557	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	87	0.00	0	C	NM_030764		157737322	157737322	-1	no_errors	ENST00000469986	ensembl	human	known	69_37n	silent	52	16.13	10	SNP	0.000	T
FGFR1OP	11116	genome.wustl.edu	37	6	167417805	167417805	+	Silent	SNP	A	A	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:167417805A>G	ENST00000366847.4	+	5	585	c.354A>G	c.(352-354)gaA>gaG	p.E118E	FGFR1OP_ENST00000349556.4_Silent_p.E118E|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	118					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GTATAATTGAAGCAGAAGGTA	0.408			T	FGFR1	"""MPD, NHL"""																																	dbGAP		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0													83.0	81.0	82.0					6																	167417805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.354A>G	6.37:g.167417805A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	p.E118	ENST00000366847.4	37	c.354	CCDS5296.1	6																																																																																			FGFR1OP	-	pfam_FOP_dimerisation-dom_N	ENSG00000213066		0.408	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	HGNC	protein_coding	OTTHUMT00000043099.2	193	0.00	0	A	NM_007045		167417805	167417805	+1	no_errors	ENST00000366847	ensembl	human	known	69_37n	silent	102	39.88	69	SNP	1.000	G
FGFR2	2263	genome.wustl.edu	37	10	123241689	123241689	+	Intron	SNP	G	G	T	rs141859447		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:123241689G>T	ENST00000358487.5	-	17	2574				FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369056.1_Silent_p.I769I|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000360144.3_Silent_p.I680I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAAACTTTCAGATCTGATAGG	0.433		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													74.0	69.0	71.0					10																	123241689		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2301+1522C>A	10.37:g.123241689G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I769	ENST00000358487.5	37	c.2307	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000066468		0.433	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	199	0.00	0	G	NM_022976, NM_000141		123241689	123241689	-1	no_errors	ENST00000369056	ensembl	human	known	69_37n	silent	76	15.56	14	SNP	0.996	T
FKBP6	8468	genome.wustl.edu	37	7	72755332	72755332	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:72755332G>C	ENST00000252037.4	+	7	913	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.E277Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.E252Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	282					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGCCCAGAAGGAGCAACCCTT	0.468																																						dbGAP											0													138.0	135.0	136.0					7																	72755332		1910	4130	6040	-	-	-	SO:0001583	missense	0			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.844G>C	7.37:g.72755332G>C	ENSP00000252037:p.Glu282Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E282Q	ENST00000252037.4	37	c.844	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	7.194	0.592185	0.13812	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.79	3.9	0.45041	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.411113	0.26753	N	0.022673	T	0.65626	0.2709	L	0.53249	1.67	0.09310	N	1	B;B;B	0.16166	0.016;0.001;0.004	B;B;B	0.11329	0.006;0.002;0.003	T	0.57277	-0.7839	10	0.45353	T	0.12	-12.6323	6.3955	0.21611	0.105:0.188:0.707:0.0	.	277;282;252	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Q	277;237;252;282	ENSP00000416277:E277Q;ENSP00000402360:E237Q;ENSP00000394952:E252Q;ENSP00000252037:E282Q	ENSP00000252037:E282Q	E	+	1	0	FKBP6	72393268	0.971000	0.33674	0.916000	0.36221	0.824000	0.46624	1.853000	0.39358	0.983000	0.38602	0.563000	0.77884	GAG	FKBP6	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000077800		0.468	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	HGNC	protein_coding	OTTHUMT00000318723.1	231	0.00	0	G	NM_003602		72755332	72755332	+1	no_errors	ENST00000252037	ensembl	human	known	69_37n	missense	174	12.56	25	SNP	0.039	C
FLVCR2	55640	genome.wustl.edu	37	14	76045470	76045470	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:76045470C>G	ENST00000238667.4	+	1	511	c.155C>G	c.(154-156)tCg>tGg	p.S52W	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	52	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCAGTTCGGCCCACCCC	0.662																																						dbGAP											0													114.0	117.0	116.0					14																	76045470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.155C>G	14.37:g.76045470C>G	ENSP00000238667:p.Ser52Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.S52W	ENST00000238667.4	37	c.155	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682546	0.88542	.	.	ENSG00000119686	ENST00000238667	T	0.42131	0.98	4.96	4.01	0.46588	.	0.376185	0.24347	N	0.039313	T	0.27098	0.0664	L	0.27053	0.805	0.21604	N	0.999624	B	0.19583	0.037	B	0.14023	0.01	T	0.11348	-1.0591	10	0.87932	D	0	-5.8674	6.4944	0.22133	0.0:0.7208:0.1835:0.0956	.	52	Q9UPI3	FLVC2_HUMAN	W	52	ENSP00000238667:S52W	ENSP00000238667:S52W	S	+	2	0	AC007182.1	75115223	0.001000	0.12720	0.218000	0.23776	0.946000	0.59487	0.864000	0.27926	2.744000	0.94065	0.650000	0.86243	TCG	FLVCR2	-	superfamily_Trimer_LpxA-like	ENSG00000119686		0.662	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	262	0.00	0	C	NM_017791		76045470	76045470	+1	no_errors	ENST00000238667	ensembl	human	known	69_37n	missense	180	10.45	21	SNP	0.078	G
FMO1	2326	genome.wustl.edu	37	1	171236744	171236744	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:171236744G>A	ENST00000354841.4	+	2	326	c.195G>A	c.(193-195)gaG>gaA	p.E65E	FMO1_ENST00000402921.2_Intron|FMO1_ENST00000367750.3_Silent_p.E65E|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	65					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCTGCAAGGAGATGTCTTGTT	0.408																																						dbGAP											0													175.0	155.0	161.0					1																	171236744		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.195G>A	1.37:g.171236744G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.E65	ENST00000354841.4	37	c.195	CCDS1294.1	1																																																																																			FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000010932		0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	271	0.00	0	G	NM_002021		171236744	171236744	+1	no_errors	ENST00000354841	ensembl	human	known	69_37n	silent	150	18.92	35	SNP	1.000	A
FOXF2	2295	genome.wustl.edu	37	6	1390570	1390570	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:1390570C>T	ENST00000259806.1	+	1	502	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	130					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTACCAGTTCCTGCAGGCGCG	0.627																																						dbGAP											0													33.0	35.0	34.0					6																	1390570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.388C>T	6.37:g.1390570C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGJ1|Q9UQ85	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L130	ENST00000259806.1	37	c.388	CCDS4472.1	6																																																																																			FOXF2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000137273		0.627	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	44	0.00	0	C			1390570	1390570	+1	no_errors	ENST00000259806	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	1.000	T
FOXJ3	22887	genome.wustl.edu	37	1	42730838	42730838	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:42730838G>A	ENST00000372572.1	-	6	703	c.392C>T	c.(391-393)tCa>tTa	p.S131L	FOXJ3_ENST00000361776.1_Missense_Mutation_p.S131L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.S131L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S131L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S131L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	131					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTGTTCAATGACAGATTATG	0.323																																						dbGAP											0													131.0	136.0	135.0					1																	42730838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.392C>T	1.37:g.42730838G>A	ENSP00000361653:p.Ser131Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.S131L	ENST00000372572.1	37	c.392	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.476048	0.96291	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.155194	0.42682	D	0.000671	D	0.99007	0.9661	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99461	1.0943	10	0.87932	D	0	.	17.2171	0.86947	0.0:0.0:1.0:0.0	.	131;131	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	L	131;131;131;131;131;131;88	ENSP00000361654:S131L;ENSP00000361653:S131L;ENSP00000354620:S131L;ENSP00000354449:S131L;ENSP00000439044:S131L;ENSP00000393408:S131L;ENSP00000403060:S88L	ENSP00000354620:S131L	S	-	2	0	FOXJ3	42503425	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.653000	0.90120	0.563000	0.77884	TCA	FOXJ3	-	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	ENSG00000198815		0.323	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	216	0.00	0	G	NM_014947		42730838	42730838	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	missense	112	14.50	19	SNP	1.000	A
FRMD6	122786	genome.wustl.edu	37	14	52192580	52192580	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:52192580C>G	ENST00000344768.5	+	13	1772	c.1576C>G	c.(1576-1578)Ctt>Gtt	p.L526V	RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000554167.1_Missense_Mutation_p.L449V|FRMD6_ENST00000553556.1_Missense_Mutation_p.L168V|FRMD6_ENST00000356218.4_Missense_Mutation_p.L518V|FRMD6_ENST00000395718.2_Missense_Mutation_p.L518V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	526					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TACTGATTCTCTTCCACAGGT	0.333																																						dbGAP											0													85.0	85.0	85.0					14																	52192580		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1576C>G	14.37:g.52192580C>G	ENSP00000343899:p.Leu526Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.L526V	ENST00000344768.5	37	c.1576	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613916	0.46631	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	D;D;D;T	0.84370	-1.84;-1.84;-1.61;-1.44	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.69940	0.3167	N	0.25647	0.755	0.50171	D	0.999858	P;P;P	0.41673	0.759;0.647;0.639	B;B;B	0.30495	0.116;0.091;0.066	T	0.69669	-0.5083	10	0.37606	T	0.19	.	6.8138	0.23819	0.1681:0.7235:0.0:0.1084	.	449;526;518	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	518;518;526;449;168	ENSP00000348550:L518V;ENSP00000379068:L518V;ENSP00000343899:L526V;ENSP00000451977:L449V	ENSP00000343899:L526V	L	+	1	0	FRMD6	51262330	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.364000	0.34171	2.937000	0.99478	0.650000	0.86243	CTT	FRMD6	-	NULL	ENSG00000139926		0.333	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	236	0.00	0	C	NM_152330		52192580	52192580	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	missense	142	11.25	18	SNP	1.000	G
FRY	10129	genome.wustl.edu	37	13	32786467	32786467	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:32786467G>A	ENST00000380250.3	+	35	5126	c.4630G>A	c.(4630-4632)Gaa>Aaa	p.E1544K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1544						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1544K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTGGCCAGGAAAATTTCCC	0.398																																						dbGAP											1	Substitution - Missense(1)	skin(1)											72.0	67.0	69.0					13																	32786467		1848	4078	5926	-	-	-	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4630G>A	13.37:g.32786467G>A	ENSP00000369600:p.Glu1544Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1544K	ENST00000380250.3	37	c.4630	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216153	0.79352	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22743	1.94	5.9	5.9	0.94986	.	0.100675	0.64402	D	0.000002	T	0.29652	0.0740	L	0.51422	1.61	0.80722	D	1	B	0.27932	0.194	B	0.41088	0.347	T	0.05241	-1.0897	10	0.07482	T	0.82	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1544	Q5TBA9	FRY_HUMAN	K	1544;381	ENSP00000369600:E1544K	ENSP00000369600:E1544K	E	+	1	0	FRY	31684467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.788000	0.95919	0.650000	0.86243	GAA	FRY	-	NULL	ENSG00000073910		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	223	0.00	0	G	NM_023037		32786467	32786467	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	missense	105	34.38	55	SNP	1.000	A
GAB3	139716	genome.wustl.edu	37	X	153940944	153940944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:153940944G>C	ENST00000369575.3	-	4	657	c.626C>G	c.(625-627)tCa>tGa	p.S209*	GAB3_ENST00000424127.2_Nonsense_Mutation_p.S210*|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	209					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAACGGTCTGAGTTTGACCA	0.507																																						dbGAP											0													60.0	56.0	57.0					X																	153940944		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.626C>G	X.37:g.153940944G>C	ENSP00000358588:p.Ser209*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHF8|E9PB44	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S210*	ENST00000369575.3	37	c.629	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.795347	0.96952	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	.	.	.	5.53	5.53	0.82687	.	0.180875	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.1236	15.6457	0.77049	0.0:0.0:1.0:0.0	.	.	.	.	X	209;210;210	.	ENSP00000358581:S210X	S	-	2	0	GAB3	153594138	1.000000	0.71417	0.956000	0.39512	0.813000	0.45954	8.668000	0.91158	2.289000	0.77006	0.506000	0.49869	TCA	GAB3	-	NULL	ENSG00000160219		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	120	0.00	0	G	NM_001081573		153940944	153940944	-1	no_errors	ENST00000424127	ensembl	human	known	69_37n	nonsense	39	22.00	11	SNP	0.999	C
GABRA2	2555	genome.wustl.edu	37	4	46252416	46252416	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:46252416C>T	ENST00000510861.1	-	10	1438	c.1265G>A	c.(1264-1266)aGa>aAa	p.R422K	GABRA2_ENST00000540012.1_Missense_Mutation_p.R427K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R422K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R422K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R422K|GABRA2_ENST00000507069.1_Missense_Mutation_p.R482K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	422					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAAAACTATTCTGGACATTCT	0.393																																						dbGAP											0													155.0	158.0	157.0					4																	46252416		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1265G>A	4.37:g.46252416C>T	ENSP00000421828:p.Arg422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R427K	ENST00000510861.1	37	c.1280	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879267	0.91740	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-1.76;-2.34	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.64567	1.98	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.994;0.996	D	0.92854	0.6300	10	0.87932	D	0	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	427;422	B7Z1H8;P47869	.;GBRA2_HUMAN	K	422;422;422;422;427;482	ENSP00000421828:R422K;ENSP00000421300:R422K;ENSP00000371033:R422K;ENSP00000348897:R422K;ENSP00000444409:R427K;ENSP00000427603:R482K	ENSP00000348897:R422K	R	-	2	0	GABRA2	45947173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.827000	0.97445	0.655000	0.94253	AGA	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	352	0.00	0	C			46252416	46252416	-1	no_errors	ENST00000540012	ensembl	human	known	69_37n	missense	168	20.38	43	SNP	1.000	T
GCN1L1	10985	genome.wustl.edu	37	12	120583088	120583088	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:120583088G>A	ENST00000300648.6	-	39	5006	c.4994C>T	c.(4993-4995)tCg>tTg	p.S1665L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1665					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCAAAAGCGATGCTTTCAG	0.602																																						dbGAP											0													34.0	39.0	38.0					12																	120583088		2047	4174	6221	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4994C>T	12.37:g.120583088G>A	ENSP00000300648:p.Ser1665Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1665L	ENST00000300648.6	37	c.4994	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.124829	0.94429	.	.	ENSG00000089154	ENST00000300648	T	0.61040	0.14	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.71941	-0.4440	10	0.62326	D	0.03	-15.2584	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1665	Q92616	GCN1L_HUMAN	L	1665	ENSP00000300648:S1665L	ENSP00000300648:S1665L	S	-	2	0	GCN1L1	119067471	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	9.362000	0.97126	2.884000	0.98904	0.655000	0.94253	TCG	GCN1L1	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	42	0.00	0	G			120583088	120583088	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	1.000	A
GDE1	51573	genome.wustl.edu	37	16	19528440	19528440	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:19528440C>A	ENST00000353258.3	-	2	513	c.333G>T	c.(331-333)atG>atT	p.M111I		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	111	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TGTTATCGTGCATTAAGACAG	0.428																																						dbGAP											0													201.0	167.0	179.0					16																	19528440		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.333G>T	16.37:g.19528440C>A	ENSP00000261386:p.Met111Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.M111I	ENST00000353258.3	37	c.333	CCDS10578.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936973	0.73557	.	.	ENSG00000006007	ENST00000353258	T	0.30714	1.52	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.143577	0.85682	D	0.000000	T	0.30448	0.0765	L	0.48935	1.535	0.80722	D	1	P	0.37207	0.587	B	0.39027	0.288	T	0.04621	-1.0938	10	0.07644	T	0.81	-17.1877	19.5132	0.95153	0.0:1.0:0.0:0.0	.	111	Q9NZC3	GDE1_HUMAN	I	111	ENSP00000261386:M111I	ENSP00000261386:M111I	M	-	3	0	GDE1	19435941	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.437000	0.80417	2.629000	0.89072	0.563000	0.77884	ATG	GDE1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000006007		0.428	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDE1	HGNC	protein_coding	OTTHUMT00000254274.2	226	0.00	0	C	NM_016641		19528440	19528440	-1	no_errors	ENST00000353258	ensembl	human	known	69_37n	missense	141	11.25	18	SNP	1.000	A
GDPD1	284161	genome.wustl.edu	37	17	57322856	57322856	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:57322856G>C	ENST00000284116.4	+	3	404	c.267G>C	c.(265-267)gaG>gaC	p.E89D	GDPD1_ENST00000581276.1_Missense_Mutation_p.E89D|GDPD1_ENST00000581140.1_Missense_Mutation_p.E89D	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CACATGATGAGAATCTAAAGA	0.358																																						dbGAP											0													104.0	89.0	94.0					17																	57322856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.267G>C	17.37:g.57322856G>C	ENSP00000284116:p.Glu89Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.E89D	ENST00000284116.4	37	c.267	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001489	0.35320	.	.	ENSG00000153982	ENST00000284116	T	0.28895	1.59	5.41	2.33	0.28932	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.387230	0.31233	N	0.008011	T	0.15565	0.0375	N	0.12182	0.205	0.28550	N	0.911651	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13098	-1.0522	10	0.35671	T	0.21	.	8.7626	0.34683	0.2527:0.0:0.7473:0.0	.	89;89	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	D	89	ENSP00000284116:E89D	ENSP00000284116:E89D	E	+	3	2	GDPD1	54677638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.934000	0.40163	0.649000	0.30751	0.485000	0.47835	GAG	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.358	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	131	0.00	0	G	NM_182569		57322856	57322856	+1	no_errors	ENST00000284116	ensembl	human	known	69_37n	missense	85	10.53	10	SNP	1.000	C
GEMIN2	8487	genome.wustl.edu	37	14	39583603	39583603	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:39583603G>C	ENST00000308317.6	+	1	177	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	GEMIN2_ENST00000396249.2_Missense_Mutation_p.E32Q|GEMIN2_ENST00000250379.8_Missense_Mutation_p.E32Q	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	32					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											ATTGCCGGTAGAGCCTTGCGA	0.627																																						dbGAP											0													63.0	59.0	60.0					14																	39583603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.94G>C	14.37:g.39583603G>C	ENSP00000308533:p.Glu32Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Missense_Mutation	SNP	pirsf_Survival_motor_neuron_Gemin2	p.E32Q	ENST00000308317.6	37	c.94	CCDS9669.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.4|21.4|21.4	4.143234|4.143234|4.143234	0.77888|0.77888|0.77888	.|.|.	.|.|.	ENSG00000092208|ENSG00000092208|ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379|ENST00000534684|ENST00000527381	.|.|.	.|.|.	.|.|.	6.04|6.04|6.04	6.04|6.04|6.04	0.98038|0.98038|0.98038	.|.|.	0.225057|.|.	0.50627|.|.	D|.|.	0.000113|.|.	T|T|.	0.73187|0.73187|.	0.3555|0.3555|.	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.38622|0.38622|0.38622	D|D|D	0.951156|0.951156|0.951156	D;D;P|.|.	0.59357|.|.	0.958;0.985;0.952|.|.	P;P;P|.|.	0.56916|.|.	0.571;0.809;0.778|.|.	T|T|.	0.70644|0.70644|.	-0.4815|-0.4815|.	9|5|.	0.38643|.|.	T|.|.	0.18|.|.	-20.2572|-20.2572|-20.2572	19.3663|19.3663|19.3663	0.94464|0.94464|0.94464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	32;32;32|.|.	O14893-2;O14893-3;O14893|.|.	.;.;GEMI2_HUMAN|.|.	Q|T|Y	32|26|23	.|.|.	ENSP00000250379:E32Q|.|.	E|R|X	+|+|+	1|2|3	0|0|2	GEMIN2|GEMIN2|GEMIN2	38653354|38653354|38653354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.387000|0.387000|0.387000	0.30353|0.30353|0.30353	5.236000|5.236000|5.236000	0.65354|0.65354|0.65354	2.873000|2.873000|2.873000	0.98535|0.98535|0.98535	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|AGA|TAG	GEMIN2	-	pirsf_Survival_motor_neuron_Gemin2	ENSG00000092208		0.627	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN2	HGNC	protein_coding	OTTHUMT00000276730.2	73	0.00	0	G			39583603	39583603	+1	no_errors	ENST00000308317	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	1.000	C
GHRHR	2692	genome.wustl.edu	37	7	31010784	31010784	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:31010784C>G	ENST00000326139.2	+	5	463	c.417C>G	c.(415-417)atC>atG	p.I139M	GHRHR_ENST00000409904.3_Missense_Mutation_p.I75M|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	139					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	GCCATAGCATCTCTATTGTAG	0.502																																						dbGAP											0													187.0	148.0	161.0					7																	31010784		2202	4293	6495	-	-	-	SO:0001583	missense	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.417C>G	7.37:g.31010784C>G	ENSP00000320180:p.Ile139Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99863	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.I139M	ENST00000326139.2	37	c.417	CCDS5432.1	7	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792851	0.50102	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.40225	1.04;1.04	5.25	4.38	0.52667	GPCR, family 2-like (1);	.	.	.	.	T	0.47801	0.1465	L	0.55990	1.75	0.80722	D	1	P;P;B	0.45986	0.87;0.87;0.425	P;P;B	0.50617	0.646;0.526;0.145	T	0.46721	-0.9171	9	0.51188	T	0.08	.	11.0189	0.47707	0.339:0.661:0.0:0.0	.	75;139;75	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	M	139;75	ENSP00000320180:I139M;ENSP00000387113:I75M	ENSP00000320180:I139M	I	+	3	3	GHRHR	30977309	0.984000	0.35163	0.999000	0.59377	0.743000	0.42351	0.174000	0.16743	1.453000	0.47775	-0.224000	0.12420	ATC	GHRHR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000106128		0.502	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	434	0.00	0	C			31010784	31010784	+1	no_errors	ENST00000326139	ensembl	human	known	69_37n	missense	280	10.22	32	SNP	1.000	G
GIF	2694	genome.wustl.edu	37	11	59603335	59603335	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:59603335C>G	ENST00000257248.2	-	7	1066	c.1019G>C	c.(1018-1020)gGg>gCg	p.G340A	GIF_ENST00000541311.1_Missense_Mutation_p.G315A	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	340					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TAACACTGACCCACTTTTCAC	0.428																																					NSCLC(53;1139 1245 16872 38474 42853)	dbGAP											0													250.0	227.0	235.0					11																	59603335		2201	4295	6496	-	-	-	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1019G>C	11.37:g.59603335C>G	ENSP00000257248:p.Gly340Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.G340A	ENST00000257248.2	37	c.1019	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050297	0.19827	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.58060	0.41;0.36	4.89	4.89	0.63831	.	0.212726	0.33092	N	0.005282	T	0.55033	0.1895	M	0.77486	2.375	0.26745	N	0.970319	D	0.53151	0.958	B	0.42087	0.375	T	0.61574	-0.7035	10	0.59425	D	0.04	-9.924	13.417	0.60974	0.0:1.0:0.0:0.0	.	340	P27352	IF_HUMAN	A	340;315	ENSP00000257248:G340A;ENSP00000440427:G315A	ENSP00000257248:G340A	G	-	2	0	GIF	59359911	0.308000	0.24509	0.067000	0.19924	0.021000	0.10359	3.551000	0.53698	2.532000	0.85374	0.655000	0.94253	GGG	GIF	-	NULL	ENSG00000134812		0.428	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	298	0.00	0	C	NM_005142		59603335	59603335	-1	no_errors	ENST00000257248	ensembl	human	known	69_37n	missense	164	13.16	25	SNP	0.336	G
GJA10	84694	genome.wustl.edu	37	6	90604554	90604554	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:90604554C>T	ENST00000369352.1	+	1	367	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	123					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAATCCAGATCTTGACTTGGA	0.478																																						dbGAP											0													72.0	71.0	71.0					6																	90604554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.367C>T	6.37:g.90604554C>T	ENSP00000358358:p.Leu123Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L123F	ENST00000369352.1	37	c.367	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	7.655	0.683700	0.14907	.	.	ENSG00000135355	ENST00000369352	D	0.97642	-4.47	4.91	3.02	0.34903	.	0.991351	0.08164	U	0.987956	D	0.85957	0.5818	N	0.21373	0.66	0.21105	N	0.999787	B	0.18310	0.027	B	0.15052	0.012	T	0.77213	-0.2670	10	0.08179	T	0.78	.	10.3473	0.43913	0.1415:0.585:0.2735:0.0	.	123	Q969M2	CXA10_HUMAN	F	123	ENSP00000358358:L123F	ENSP00000358358:L123F	L	+	1	0	GJA10	90661275	0.065000	0.20965	0.910000	0.35882	0.991000	0.79684	1.283000	0.33237	1.289000	0.44618	0.563000	0.77884	CTT	GJA10	-	NULL	ENSG00000135355		0.478	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	177	0.00	0	C	NM_032602		90604554	90604554	+1	no_errors	ENST00000369352	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	0.352	T
GLI1	2735	genome.wustl.edu	37	12	57865236	57865236	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:57865236C>G	ENST00000228682.2	+	12	2804	c.2713C>G	c.(2713-2715)Caa>Gaa	p.Q905E	GLI1_ENST00000546141.1_Missense_Mutation_p.Q864E|GLI1_ENST00000543426.1_Missense_Mutation_p.Q777E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	905					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTTCAATCTCAACAGGAGCT	0.562																																					Pancreas(157;841 1936 10503 41495 50368)	dbGAP											0													49.0	53.0	52.0					12																	57865236		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2713C>G	12.37:g.57865236C>G	ENSP00000228682:p.Gln905Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q905E	ENST00000228682.2	37	c.2713	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459063	0.63401	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.15952	2.45;2.38;2.47;2.47	4.53	4.53	0.55603	.	0.000000	0.41500	D	0.000863	T	0.29976	0.0750	L	0.36672	1.1	0.47819	D	0.999527	D	0.54964	0.969	D	0.64877	0.93	T	0.01068	-1.1462	10	0.33141	T	0.24	.	16.5712	0.84613	0.0:1.0:0.0:0.0	.	905	P08151	GLI1_HUMAN	E	777;905;864;864;373	ENSP00000437607:Q777E;ENSP00000228682:Q905E;ENSP00000441006:Q864E;ENSP00000434408:Q864E	ENSP00000228682:Q905E	Q	+	1	0	GLI1	56151503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.866000	0.63005	2.511000	0.84671	0.555000	0.69702	CAA	GLI1	-	NULL	ENSG00000111087		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	67	0.00	0	C	NM_005269		57865236	57865236	+1	no_errors	ENST00000228682	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	G
GLI2	2736	genome.wustl.edu	37	2	121747939	121747939	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:121747939C>G	ENST00000452319.1	+	14	4509	c.4449C>G	c.(4447-4449)atC>atG	p.I1483M	GLI2_ENST00000361492.4_Missense_Mutation_p.I1483M|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGACAGCATCCAGCCCCAGC	0.627																																						dbGAP											0													70.0	75.0	74.0					2																	121747939		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4449C>G	2.37:g.121747939C>G	ENSP00000390436:p.Ile1483Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1483M	ENST00000452319.1	37	c.4449	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504088	0.26949	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14022	2.54;2.54	4.36	1.36	0.22044	.	0.600414	0.16288	N	0.221020	T	0.11196	0.0273	L	0.41236	1.265	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.10450	0.002;0.005	T	0.09818	-1.0657	10	0.38643	T	0.18	.	9.4792	0.38891	0.0:0.5964:0.3218:0.0818	.	1483;1138	P10070;P10070-2	GLI2_HUMAN;.	M	1483	ENSP00000390436:I1483M;ENSP00000354586:I1483M	ENSP00000354586:I1483M	I	+	3	3	GLI2	121464409	0.966000	0.33281	0.879000	0.34478	0.858000	0.48976	1.055000	0.30467	0.446000	0.26666	0.555000	0.69702	ATC	GLI2	-	NULL	ENSG00000074047		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	71	0.00	0	C	NM_005270		121747939	121747939	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	0.990	G
GLYR1	84656	genome.wustl.edu	37	16	4882058	4882058	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:4882058C>G	ENST00000321919.9	-	5	535	c.459G>C	c.(457-459)gaG>gaC	p.E153D	GLYR1_ENST00000591451.1_Missense_Mutation_p.E153D|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.E153D|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	153					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TGGAGCCTCTCTCTGAAGAGC	0.517																																						dbGAP											0													119.0	116.0	117.0					16																	4882058		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.459G>C	16.37:g.4882058C>G	ENSP00000322716:p.Glu153Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.E153D	ENST00000321919.9	37	c.459	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294050	0.23564	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.65916	-0.18;-0.18	5.29	2.15	0.27550	.	0.102964	0.64402	N	0.000003	T	0.54415	0.1857	N	0.14661	0.345	0.27498	N	0.952074	B;B;B	0.32829	0.386;0.386;0.267	P;P;P	0.54924	0.764;0.764;0.585	T	0.52313	-0.8592	10	0.14252	T	0.57	-19.5841	5.3747	0.16158	0.0:0.5916:0.1673:0.2411	.	153;153;153	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	D	153	ENSP00000322716:E153D;ENSP00000371413:E153D	ENSP00000322716:E153D	E	-	3	2	GLYR1	4822059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.540000	0.23191	0.693000	0.31634	0.650000	0.86243	GAG	GLYR1	-	NULL	ENSG00000140632		0.517	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	186	0.00	0	C	NM_032569		4882058	4882058	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	missense	122	17.01	25	SNP	0.999	G
GOLGB1	2804	genome.wustl.edu	37	3	121409645	121409645	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:121409645C>T	ENST00000340645.5	-	14	8676	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2856K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2851					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTCCAGCTCATTCCACAGG	0.468																																						dbGAP											0													65.0	62.0	63.0					3																	121409645		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8551G>A	3.37:g.121409645C>T	ENSP00000341848:p.Glu2851Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2851K	ENST00000340645.5	37	c.8551	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354939	0.41700	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.51817	0.69;0.69	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000006	T	0.54615	0.1869	L	0.32530	0.975	0.42188	D	0.991716	D;P;D	0.76494	0.998;0.946;0.999	D;P;D	0.80764	0.994;0.859;0.98	T	0.49597	-0.8923	10	0.35671	T	0.21	.	11.3879	0.49796	0.1802:0.8197:0.0:0.0	.	2856;2856;2851	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2851;2856	ENSP00000341848:E2851K;ENSP00000377275:E2856K	ENSP00000341848:E2851K	E	-	1	0	GOLGB1	122892335	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.224000	0.58593	2.756000	0.94617	0.655000	0.94253	GAG	GOLGB1	-	superfamily_STAT_TF_coiled-coil	ENSG00000173230		0.468	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	156	0.00	0	C	NM_004487		121409645	121409645	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155755109	155755109	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:155755109G>A	ENST00000368331.1	-	13	1837				GON4L_ENST00000471341.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCTCACTCGAGGATCATTA	0.418																																						dbGAP											0													179.0	158.0	165.0					1																	155755109		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1788+15C>T	1.37:g.155755109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-	ENSG00000116580		0.418	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		405	0.00	0	G	NM_032292		155755109	155755109	-1	no_errors	ENST00000467009	ensembl	human	known	69_37n	rna	206	20.31	53	SNP	0.000	A
GORAB	92344	genome.wustl.edu	37	1	170521388	170521388	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:170521388G>C	ENST00000367763.3	+	5	990	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	324	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACAAGAAGTAGAATCAAGGAG	0.453																																						dbGAP											0													108.0	97.0	100.0					1																	170521388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.970G>C	1.37:g.170521388G>C	ENSP00000356737:p.Glu324Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	pfam_Golgin_RAB6-interacting	p.E324Q	ENST00000367763.3	37	c.970	CCDS1289.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576596	0.86645	.	.	ENSG00000120370	ENST00000367763	T	0.63744	-0.06	5.48	5.48	0.80851	.	0.366123	0.28504	N	0.015104	T	0.66886	0.2835	M	0.62723	1.935	0.80722	D	1	D	0.57257	0.979	P	0.55455	0.776	T	0.65368	-0.6185	10	0.40728	T	0.16	-24.5395	18.966	0.92697	0.0:0.0:1.0:0.0	.	324	Q5T7V8	GORAB_HUMAN	Q	324	ENSP00000356737:E324Q	ENSP00000356737:E324Q	E	+	1	0	GORAB	168788012	1.000000	0.71417	0.080000	0.20451	0.003000	0.03518	6.974000	0.76122	2.576000	0.86940	0.655000	0.94253	GAA	GORAB	-	NULL	ENSG00000120370		0.453	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	151	0.00	0	G	NM_152281		170521388	170521388	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	0.681	C
GPR108	56927	genome.wustl.edu	37	19	6732521	6732521	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:6732521C>T	ENST00000264080.7	-	11	999	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	GPR108_ENST00000430424.4_Missense_Mutation_p.E83K|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	325						integral component of membrane (GO:0016021)		p.E325K(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCAAGGCCTTCGATGGGGTGG	0.632																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											73.0	75.0	74.0					19																	6732521		2107	4207	6314	-	-	-	SO:0001583	missense	0				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.973G>A	19.37:g.6732521C>T	ENSP00000264080:p.Glu325Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.E325K	ENST00000264080.7	37	c.973	CCDS42479.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065911	0.76187	.	.	ENSG00000125734	ENST00000264080;ENST00000430424	T	0.25414	1.8	4.02	2.98	0.34508	.	0.000000	0.64402	U	0.000009	T	0.45736	0.1357	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.41502	-0.9505	10	0.72032	D	0.01	-11.6071	7.7417	0.28845	0.0:0.8833:0.0:0.1167	.	325	Q9NPR9	GP108_HUMAN	K	325;83	ENSP00000264080:E325K	ENSP00000264080:E325K	E	-	1	0	GPR108	6683521	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	3.877000	0.56123	1.026000	0.39733	0.491000	0.48974	GAA	GPR108	-	pfam_TM_rcpt_euk	ENSG00000125734		0.632	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR108	HGNC	protein_coding	OTTHUMT00000407508.2	129	0.00	0	C			6732521	6732521	-1	no_errors	ENST00000264080	ensembl	human	known	69_37n	missense	47	20.34	12	SNP	1.000	T
GPR112	139378	genome.wustl.edu	37	X	135431750	135431750	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:135431750G>A	ENST00000394143.1	+	6	6176	c.5885G>A	c.(5884-5886)aGa>aAa	p.R1962K	GPR112_ENST00000412101.1_Missense_Mutation_p.R1757K|GPR112_ENST00000287534.4_Missense_Mutation_p.R1899K|GPR112_ENST00000370652.1_Missense_Mutation_p.R1962K|GPR112_ENST00000394141.1_Missense_Mutation_p.R1757K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1962					G-protein coupled receptor signaling pathway (GO:0007186)|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(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCTTTAAGAGCTATCACT	0.418																																						dbGAP											0													104.0	99.0	101.0					X																	135431750		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5885G>A	X.37:g.135431750G>A	ENSP00000377699:p.Arg1962Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R1962K	ENST00000394143.1	37	c.5885	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	5.615	0.298109	0.10622	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30182	1.58;1.58;1.54;1.68;1.54	4.21	-1.45	0.08828	.	.	.	.	.	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	B;B;P	0.34662	0.202;0.02;0.462	B;B;B	0.30943	0.058;0.008;0.122	T	0.19647	-1.0299	9	0.02654	T	1	.	0.5333	0.00632	0.3619:0.1812:0.2806:0.1762	.	1899;1757;1962	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1962;1962;1757;1899;1757	ENSP00000377699:R1962K;ENSP00000359686:R1962K;ENSP00000416526:R1757K;ENSP00000287534:R1899K;ENSP00000377697:R1757K	ENSP00000287534:R1899K	R	+	2	0	GPR112	135259416	0.005000	0.15991	0.199000	0.23439	0.075000	0.17131	-0.243000	0.08915	-0.056000	0.13221	0.530000	0.56133	AGA	GPR112	-	NULL	ENSG00000156920		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	170	0.58	1	G			135431750	135431750	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	83	10.75	10	SNP	0.012	A
GPR128	84873	genome.wustl.edu	37	3	100362199	100362199	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:100362199C>T	ENST00000273352.3	+	7	1056	c.788C>T	c.(787-789)tCt>tTt	p.S263F	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	263					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCAAATTTCTCTTCAGAAAAT	0.408																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0													155.0	159.0	157.0					3																	100362199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.788C>T	3.37:g.100362199C>T	ENSP00000273352:p.Ser263Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S263F	ENST00000273352.3	37	c.788	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	4.996	0.185022	0.09495	.	.	ENSG00000144820	ENST00000273352	T	0.42900	0.96	4.26	2.4	0.29515	.	1.104400	0.06944	N	0.813384	T	0.35799	0.0944	L	0.44542	1.39	0.09310	N	0.999999	P	0.36616	0.561	B	0.33339	0.162	T	0.28138	-1.0053	10	0.62326	D	0.03	.	9.0953	0.36636	0.399:0.601:0.0:0.0	.	263	Q96K78	GP128_HUMAN	F	263	ENSP00000273352:S263F	ENSP00000273352:S263F	S	+	2	0	GPR128	101844889	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.673000	0.25203	0.410000	0.25675	0.650000	0.86243	TCT	GPR128	-	NULL	ENSG00000144820		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	298	0.00	0	C			100362199	100362199	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	missense	161	15.26	29	SNP	0.003	T
GPR98	84059	genome.wustl.edu	37	5	90055367	90055367	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:90055367G>A	ENST00000405460.2	+	58	12178	c.12082G>A	c.(12082-12084)Gat>Aat	p.D4028N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4028	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACAAAATGATTCTCCATT	0.373																																						dbGAP											0													156.0	147.0	150.0					5																	90055367		1996	4187	6183	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12082G>A	5.37:g.90055367G>A	ENSP00000384582:p.Asp4028Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	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,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D4028N	ENST00000405460.2	37	c.12082	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.781614|5.781614	0.96929|0.96929	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.52526|.	0.66|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Na-Ca exchanger/integrin-beta4 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84179|0.84179	0.5415|0.5415	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.986;0.991|.	D|D	0.86728|0.86728	0.1946|0.1946	10|5	0.66056|.	D|.	0.02|.	.|.	18.7882|18.7882	0.91963|0.91963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4028;4028|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	N|I	4028|1593	ENSP00000384582:D4028N|.	ENSP00000296619:D4028N|.	D|M	+|+	1|3	0|0	GPR98|GPR98	90091123|90091123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.849000|8.849000	0.92178|0.92178	2.521000|2.521000	0.84997|0.84997	0.563000|0.563000	0.77884|0.77884	GAT|ATG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	537	0.00	0	G	NM_032119		90055367	90055367	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	202	26.35	73	SNP	1.000	A
GPSM1	26086	genome.wustl.edu	37	9	139232342	139232342	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:139232342G>A	ENST00000440944.1	+	6	962	c.742G>A	c.(742-744)Gag>Aag	p.E248K	GPSM1_ENST00000392945.3_Missense_Mutation_p.E248K	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	248	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CAAGGCAGCCGAGAGGAGGGC	0.657																																						dbGAP											0													67.0	58.0	61.0					9																	139232342		2198	4299	6497	-	-	-	SO:0001583	missense	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.742G>A	9.37:g.139232342G>A	ENSP00000392828:p.Glu248Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E248K	ENST00000440944.1	37	c.742	CCDS48055.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.704620	0.96812	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.76186	-1.0;-1.0;-1.0	4.22	4.22	0.49857	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	U	0.000003	D	0.87470	0.6185	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.77004	0.989;0.867	D	0.90285	0.4318	10	0.87932	D	0	-11.4665	15.9667	0.79979	0.0:0.0:1.0:0.0	.	248;248	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	K	248;248;225	ENSP00000376674:E248K;ENSP00000392828:E248K;ENSP00000346797:E225K	ENSP00000346797:E225K	E	+	1	0	GPSM1	138352163	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	9.656000	0.98514	2.060000	0.61445	0.462000	0.41574	GAG	GPSM1	-	pfscan_TPR-contain_dom	ENSG00000160360		0.657	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		46	0.00	0	G	NM_015597		139232342	139232342	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	missense	27	26.32	10	SNP	1.000	A
GREM2	64388	genome.wustl.edu	37	1	240656326	240656326	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:240656326C>T	ENST00000318160.4	-	2	716	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	150	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GCTTCACCTTCTGGATTTTCT	0.687																																						dbGAP											0													49.0	52.0	51.0					1																	240656326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.450G>A	1.37:g.240656326C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.Q150	ENST00000318160.4	37	c.450	CCDS31070.1	1																																																																																			GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.687	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	39	0.00	0	C	NM_022469		240656326	240656326	-1	no_errors	ENST00000318160	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	1.000	T
GRID2	2895	genome.wustl.edu	37	4	94032024	94032024	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:94032024G>C	ENST00000282020.4	+	4	913	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	GRID2_ENST00000510992.1_Missense_Mutation_p.E124Q|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	219					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAGAATAGAAGAACTGAATCG	0.413																																						dbGAP											0													149.0	146.0	147.0					4																	94032024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.655G>C	4.37:g.94032024G>C	ENSP00000282020:p.Glu219Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E219Q	ENST00000282020.4	37	c.655	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.233275	0.95207	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.82803	-1.65;-1.62	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.69078	0.991;0.991;0.997	D;D;D	0.79108	0.988;0.988;0.992	D	0.89532	0.3786	10	0.87932	D	0	.	19.7485	0.96259	0.0:0.0:1.0:0.0	.	124;219;160	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	Q	219;124	ENSP00000282020:E219Q;ENSP00000421257:E124Q	ENSP00000282020:E219Q	E	+	1	0	GRID2	94251047	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.347000	0.97059	2.742000	0.94016	0.655000	0.94253	GAA	GRID2	-	pfam_ANF_lig-bd_rcpt	ENSG00000152208		0.413	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	183	0.00	0	G			94032024	94032024	+1	no_errors	ENST00000282020	ensembl	human	known	69_37n	missense	90	12.62	13	SNP	1.000	C
GRIK2	2898	genome.wustl.edu	37	6	102124653	102124653	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:102124653G>C	ENST00000421544.1	+	4	1187	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	GRIK2_ENST00000369137.3_Missense_Mutation_p.E233Q|GRIK2_ENST00000358361.3_Missense_Mutation_p.E233Q|GRIK2_ENST00000369138.1_Missense_Mutation_p.E233Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.E233Q|GRIK2_ENST00000369134.4_Missense_Mutation_p.E184Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.E233Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	233					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E233K(4)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGTAGCCATGAAATGGCAGC	0.323																																						dbGAP											4	Substitution - Missense(4)	upper_aerodigestive_tract(2)|breast(2)											74.0	76.0	75.0					6																	102124653		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.697G>C	6.37:g.102124653G>C	ENSP00000397026:p.Glu233Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E233Q	ENST00000421544.1	37	c.697	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980168	0.53827	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D;T	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;1.81	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.118288	0.64402	D	0.000017	T	0.75125	0.3807	L	0.50919	1.6	0.47698	D	0.99949	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.003;0.008;0.002	T	0.70008	-0.4990	10	0.51188	T	0.08	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	233;233;233	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	Q	233;233;233;233;233;233;233;184;195;4	ENSP00000397026:E233Q;ENSP00000405596:E233Q;ENSP00000358134:E233Q;ENSP00000351128:E233Q;ENSP00000358133:E233Q;ENSP00000313276:E233Q;ENSP00000358130:E184Q;ENSP00000391988:E4Q	ENSP00000313276:E233Q	E	+	1	0	GRIK2	102231346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.745000	0.94114	0.650000	0.86243	GAA	GRIK2	-	pfam_ANF_lig-bd_rcpt	ENSG00000164418		0.323	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	157	0.00	0	G			102124653	102124653	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	81	15.46	15	SNP	1.000	C
GRIP1	23426	genome.wustl.edu	37	12	66909438	66909438	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:66909438C>G	ENST00000398016.3	-	7	753	c.685G>C	c.(685-687)Gaa>Caa	p.E229Q	GRIP1_ENST00000286445.7_Missense_Mutation_p.E229Q|GRIP1_ENST00000359742.4_Missense_Mutation_p.E229Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGTGCTGCTTCTTGTCCACAT	0.478																																						dbGAP											0													220.0	222.0	221.0					12																	66909438		1991	4180	6171	-	-	-	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.685G>C	12.37:g.66909438C>G	ENSP00000381098:p.Glu229Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E229Q	ENST00000398016.3	37	c.685	CCDS41807.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.92|12.92|12.92	2.082441|2.082441|2.082441	0.36758|0.36758|0.36758	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666|ENST00000538164|ENST00000543172	T;T;T;T;T;T;T;T|.|.	0.30981|.|.	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51|.|.	5.77|5.77|5.77	5.77|5.77|5.77	0.91146|0.91146|0.91146	PDZ/DHR/GLGF (4);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.53899|0.53899|0.53899	0.1825|0.1825|0.1825	N|N|N	0.16743|0.16743|0.16743	0.435|0.435|0.435	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;P;B|.|.	0.40534|.|.	0.187;0.72;0.373|.|.	B;B;B|.|.	0.39840|.|.	0.028;0.311;0.154|.|.	T|T|T	0.46789|0.46789|0.46789	-0.9166|-0.9166|-0.9166	9|5|5	.|.|.	.|.|.	.|.|.	-26.6607|-26.6607|-26.6607	19.9791|19.9791|19.9791	0.97320|0.97320|0.97320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	229;229;229|.|.	F5H4N6;Q9Y3R0;Q9Y3R0-3|.|.	.;GRIP1_HUMAN;.|.|.	Q|N|T	229;229;229;100;229;173;173;202|43|49	ENSP00000381098:E229Q;ENSP00000352780:E229Q;ENSP00000286445:E229Q;ENSP00000443006:E100Q;ENSP00000446047:E229Q;ENSP00000446024:E173Q;ENSP00000446011:E173Q;ENSP00000439124:E202Q|.|.	.|.|.	E|K|R	-|-|-	1|3|2	0|2|0	GRIP1|GRIP1|GRIP1	65195705|65195705|65195705	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.048000|0.048000|0.048000	0.14542|0.14542|0.14542	7.456000|7.456000|7.456000	0.80751|0.80751|0.80751	2.733000|2.733000|2.733000	0.93635|0.93635|0.93635	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|AAG|AGA	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.478	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	214	0.00	0	C			66909438	66909438	-1	no_errors	ENST00000359742	ensembl	human	known	69_37n	missense	129	11.03	16	SNP	1.000	G
GRIP1	23426	genome.wustl.edu	37	12	66932879	66932879	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:66932879C>T	ENST00000398016.3	-	4	465	c.397G>A	c.(397-399)Gag>Aag	p.E133K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E133K|GRIP1_ENST00000359742.4_Missense_Mutation_p.E133K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGCTCGTACTCTACTTCAAGA	0.478																																						dbGAP											0													191.0	181.0	184.0					12																	66932879		1932	4131	6063	-	-	-	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.397G>A	12.37:g.66932879C>T	ENSP00000381098:p.Glu133Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E133K	ENST00000398016.3	37	c.397	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110334	0.56398	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.99;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.28014	0.82	0.80722	D	1	D;P;D	0.76494	0.999;0.839;0.999	D;P;D	0.71870	0.974;0.596;0.975	T	0.24584	-1.0156	9	.	.	.	-20.1859	17.7295	0.88373	0.0:1.0:0.0:0.0	.	133;133;133	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	K	133;133;133;4;133;77;77;106;77;77;159	ENSP00000381098:E133K;ENSP00000352780:E133K;ENSP00000286445:E133K;ENSP00000443006:E4K;ENSP00000446047:E133K;ENSP00000446024:E77K;ENSP00000446011:E77K;ENSP00000439124:E106K;ENSP00000438500:E77K;ENSP00000443392:E77K;ENSP00000438921:E159K	.	E	-	1	0	GRIP1	65219146	1.000000	0.71417	0.957000	0.39632	0.011000	0.07611	7.818000	0.86416	2.263000	0.75096	0.467000	0.42956	GAG	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155974		0.478	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	272	0.00	0	C			66932879	66932879	-1	no_errors	ENST00000359742	ensembl	human	known	69_37n	missense	135	15.09	24	SNP	1.000	T
GTF3C1	2975	genome.wustl.edu	37	16	27480781	27480781	+	Silent	SNP	C	C	T	rs11551766		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:27480781C>T	ENST00000356183.4	-	32	4920	c.4905G>A	c.(4903-4905)gtG>gtA	p.V1635V	GTF3C1_ENST00000561623.1_Silent_p.V1635V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1635					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCAGGTTTCACCTCCATGC	0.602																																						dbGAP											0													172.0	135.0	147.0					16																	27480781		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4905G>A	16.37:g.27480781C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	pfam_TFIIIC_Bblock-bd	p.V1635	ENST00000356183.4	37	c.4905	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	263	0.00	0	C	NM_001520		27480781	27480781	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	silent	123	22.15	35	SNP	1.000	T
HADHA	3030	genome.wustl.edu	37	2	26437956	26437956	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:26437956C>G	ENST00000380649.3	-	8	894	c.765G>C	c.(763-765)aaG>aaC	p.K255N	HADHA_ENST00000457468.2_Missense_Mutation_p.K168N	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	255					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGAGATCTTCTTATCAG	0.368																																						dbGAP											0													189.0	186.0	187.0					2																	26437956		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.765G>C	2.37:g.26437956C>G	ENSP00000370023:p.Lys255Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	p.K255N	ENST00000380649.3	37	c.765	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402050	0.42613	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.71341	-0.56;-0.56	5.97	1.82	0.25136	.	0.042575	0.85682	D	0.000000	T	0.64843	0.2635	L	0.58583	1.82	0.58432	D	0.999998	B;B;B	0.28026	0.082;0.198;0.198	B;B;B	0.31337	0.035;0.128;0.128	T	0.59112	-0.7515	10	0.54805	T	0.06	-12.5223	9.4019	0.38437	0.0:0.6897:0.0:0.3103	.	168;255;255	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	N	255;168	ENSP00000370023:K255N;ENSP00000405344:K168N	ENSP00000370023:K255N	K	-	3	2	HADHA	26291460	0.899000	0.30636	0.930000	0.37139	0.819000	0.46315	-0.084000	0.11268	0.026000	0.15269	-0.237000	0.12165	AAG	HADHA	-	tigrfam_Fa_ox_alpha_mit	ENSG00000084754		0.368	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1	455	0.00	0	C	NM_000182		26437956	26437956	-1	no_errors	ENST00000380649	ensembl	human	known	69_37n	missense	211	14.52	36	SNP	1.000	G
HAO2	51179	genome.wustl.edu	37	1	119936427	119936427	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:119936427G>C	ENST00000325945.3	+	8	1093	c.1020G>C	c.(1018-1020)gaG>gaC	p.E340D	HAO2_ENST00000361035.4_Missense_Mutation_p.E353D|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	340	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CGGTCGCTGAGATCAATCGAA	0.478																																						dbGAP											0													206.0	189.0	195.0					1																	119936427		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.1020G>C	1.37:g.119936427G>C	ENSP00000316339:p.Glu340Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.E353D	ENST00000325945.3	37	c.1059	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.422528	0.01126	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.32753	1.44;1.44	4.44	2.56	0.30785	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.050540	0.85682	D	0.000000	T	0.05640	0.0148	N	0.12443	0.215	0.58432	D	0.999996	B	0.02656	0.0	B	0.09377	0.004	T	0.19976	-1.0289	9	.	.	.	-26.7383	8.8309	0.35082	0.2564:0.0:0.7436:0.0	.	340	Q9NYQ3	HAOX2_HUMAN	D	353;340	ENSP00000354314:E353D;ENSP00000316339:E340D	.	E	+	3	2	HAO2	119737950	1.000000	0.71417	0.928000	0.36995	0.179000	0.23085	1.365000	0.34182	0.630000	0.30394	0.563000	0.77884	GAG	HAO2	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000116882		0.478	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	331	0.00	0	G	NM_001005783		119936427	119936427	+1	no_errors	ENST00000361035	ensembl	human	known	69_37n	missense	212	14.11	35	SNP	1.000	C
HEATR3	55027	genome.wustl.edu	37	16	50102697	50102697	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:50102697C>T	ENST00000299192.7	+	3	509	c.318C>T	c.(316-318)ctC>ctT	p.L106L	HEATR3_ENST00000285767.4_Silent_p.L20L|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	106										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTAGAAATCTCAGTGCTTGTG	0.378																																						dbGAP											0													275.0	253.0	260.0					16																	50102697		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.318C>T	16.37:g.50102697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	superfamily_ARM-type_fold	p.L106	ENST00000299192.7	37	c.318	CCDS10739.1	16																																																																																			HEATR3	-	superfamily_ARM-type_fold	ENSG00000155393		0.378	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	444	0.00	0	C	NM_182922		50102697	50102697	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	silent	217	11.34	28	SNP	1.000	T
HEATR3	55027	genome.wustl.edu	37	16	50120139	50120139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:50120139C>T	ENST00000299192.7	+	11	1578	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.Q377*|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	463										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAACACTATTCAGTGCAGAGC	0.493																																						dbGAP											0													47.0	34.0	38.0					16																	50120139		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1387C>T	16.37:g.50120139C>T	ENSP00000299192:p.Gln463*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q463*	ENST00000299192.7	37	c.1387	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.741477	0.96873	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.7872	0.96444	0.0:1.0:0.0:0.0	.	.	.	.	X	377;463	.	ENSP00000285767:Q377X	Q	+	1	0	HEATR3	48677640	1.000000	0.71417	0.947000	0.38551	0.052000	0.14988	6.550000	0.73905	2.653000	0.90120	0.650000	0.86243	CAG	HEATR3	-	superfamily_ARM-type_fold	ENSG00000155393		0.493	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	75	0.00	0	C	NM_182922		50120139	50120139	+1	no_errors	ENST00000299192	ensembl	human	known	69_37n	nonsense	45	11.76	6	SNP	0.999	T
HEATR5A	25938	genome.wustl.edu	37	14	31778176	31778176	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:31778176C>G	ENST00000389961.3	-	28	4635	c.4636G>C	c.(4636-4638)Gag>Cag	p.E1546Q	AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000543095.2_Missense_Mutation_p.E1552Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1546Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1259Q			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1546										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGACATCCTCAGGGGACTTT	0.403																																						dbGAP											0													94.0	85.0	88.0					14																	31778176		1853	4099	5952	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4636G>C	14.37:g.31778176C>G	ENSP00000374611:p.Glu1546Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1546Q	ENST00000389961.3	37	c.4636		14	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828012	0.71143	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.69806	0.84;-0.43;0.84;0.84	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.77616	2.38	0.80722	D	1	P	0.41524	0.753	B	0.39027	0.288	T	0.70637	-0.4817	10	0.31617	T	0.26	.	19.4284	0.94754	0.0:1.0:0.0:0.0	.	1546	Q86XA9-2	.	Q	1546;1546;1259;1552	ENSP00000374611:E1546Q;ENSP00000405407:E1546Q;ENSP00000408681:E1259Q;ENSP00000437968:E1552Q	ENSP00000374611:E1546Q	E	-	1	0	HEATR5A	30847927	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.891000	0.69782	2.620000	0.88729	0.655000	0.94253	GAG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		157	0.00	0	C	NM_015473		31778176	31778176	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	96	10.28	11	SNP	1.000	G
MROH2B	133558	genome.wustl.edu	37	5	41009477	41009477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:41009477C>A	ENST00000399564.4	-	32	3775	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E664*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1109																	GCTGGCTTTTCAGCCAGCGCC	0.498																																						dbGAP											0													91.0	95.0	94.0					5																	41009477		1852	4104	5956	-	-	-	SO:0001587	stop_gained	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3325G>T	5.37:g.41009477C>A	ENSP00000382476:p.Glu1109*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E1109*	ENST00000399564.4	37	c.3325	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.796022	0.97845	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	6.06	3.23	0.37069	.	0.188110	0.37761	N	0.001941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	8.5709	0.33569	0.0:0.633:0.2888:0.0783	.	.	.	.	X	664;814;1109	.	ENSP00000296803:E814X	E	-	1	0	HEATR7B2	41045234	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	2.152000	0.42272	0.890000	0.36211	-0.175000	0.13238	GAA	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	114	0.00	0	C	NM_173489		41009477	41009477	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	nonsense	79	21.57	22	SNP	0.998	A
HEXB	3074	genome.wustl.edu	37	5	74016965	74016965	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:74016965C>G	ENST00000261416.7	+	14	1753	c.1636C>G	c.(1636-1638)Ctt>Gtt	p.L546V	HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000511181.1_Missense_Mutation_p.L321V|GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000509579.1_Missense_Mutation_p.L25V	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	546					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCACAACCTCTTTATGCTGG	0.303																																					Melanoma(66;841 1270 13391 18706 27225)	dbGAP											0													75.0	70.0	72.0					5																	74016965		2203	4299	6502	-	-	-	SO:0001583	missense	0			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1636C>G	5.37:g.74016965C>G	ENSP00000261416:p.Leu546Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.L546V	ENST00000261416.7	37	c.1636	CCDS4022.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.766|3.766	-0.048713|-0.048713	0.07407|0.07407	.|.	.|.	ENSG00000049860|ENSG00000049860	ENST00000511181;ENST00000261416;ENST00000509579|ENST00000513336	D;D;D|.	0.98207|.	-2.68;-2.68;-4.79|.	5.98|5.98	5.11|5.11	0.69529|0.69529	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	M|M	0.64997|0.64997	1.995|1.995	0.44214|0.44214	D|D	0.99704|0.99704	B|.	0.16603|.	0.018|.	B|.	0.16289|.	0.015|.	T|T	0.61744|0.61744	-0.7000|-0.7000	10|5	0.08381|.	T|.	0.77|.	-12.8258|-12.8258	7.7116|7.7116	0.28682|0.28682	0.0:0.7229:0.1399:0.1372|0.0:0.7229:0.1399:0.1372	.|.	546|.	P07686|.	HEXB_HUMAN|.	V|C	321;546;25|191	ENSP00000426285:L321V;ENSP00000261416:L546V;ENSP00000424939:L25V|.	ENSP00000261416:L546V|.	L|S	+|+	1|2	0|0	HEXB|HEXB	74052721|74052721	0.023000|0.023000	0.18921|0.18921	0.896000|0.896000	0.35187|0.35187	0.906000|0.906000	0.53458|0.53458	0.407000|0.407000	0.21049|0.21049	1.533000|1.533000	0.49186|0.49186	0.650000|0.650000	0.86243|0.86243	CTT|TCT	HEXB	-	superfamily_Glycoside_hydrolase_SF	ENSG00000049860		0.303	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	151	0.00	0	C	NM_000521		74016965	74016965	+1	no_errors	ENST00000261416	ensembl	human	known	69_37n	missense	73	14.12	12	SNP	0.996	G
HGSNAT	138050	genome.wustl.edu	37	8	43054540	43054540	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:43054540C>G	ENST00000458501.2	+	18	1820	c.1820C>G	c.(1819-1821)tCc>tGc	p.S607C	HGSNAT_ENST00000379644.4_Missense_Mutation_p.S579C|HGSNAT_ENST00000297798.7_Missense_Mutation_p.S311C|HGSNAT_ENST00000521576.1_Missense_Mutation_p.S296C			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	607					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGAATGAATTCCATTCTGGTA	0.423																																						dbGAP											0													52.0	54.0	53.0					8																	43054540		2177	4277	6454	-	-	-	SO:0001583	missense	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1820C>G	8.37:g.43054540C>G	ENSP00000389524:p.Ser607Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.S607C	ENST00000458501.2	37	c.1820		8	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890163	0.52014	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97679	1.0171	10	0.59425	D	0.04	-18.5014	16.4286	0.83832	0.0:1.0:0.0:0.0	.	607	Q68CP4	HGNAT_HUMAN	C	607;579;296;311	ENSP00000389524:S607C;ENSP00000368965:S579C;ENSP00000429029:S296C;ENSP00000297798:S311C	ENSP00000297798:S311C	S	+	2	0	HGSNAT	43173697	1.000000	0.71417	0.874000	0.34290	0.048000	0.14542	7.284000	0.78650	2.455000	0.83008	0.563000	0.77884	TCC	HGSNAT	-	NULL	ENSG00000165102		0.423	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		97	0.00	0	C	XM_372038		43054540	43054540	+1	no_errors	ENST00000458501	ensembl	human	known	69_37n	missense	70	11.39	9	SNP	0.999	G
HIST1H4D	8360	genome.wustl.edu	37	6	26188994	26188994	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:26188994C>A	ENST00000340756.2	-	1	310	c.311G>T	c.(310-312)tGa>tTa	p.*104L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537																																						dbGAP											0													101.0	85.0	90.0					6																	26188994		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.311G>T	6.37:g.26188994C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104L	ENST00000340756.2	37	c.311	CCDS4589.1	6	.	.	.	.	.	.	.	.	.	.	.	9.330	1.060309	0.19987	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	-3.85	0.04243	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9255	0.58258	0.0:0.559:0.0:0.441	.	.	.	.	L	104	.	.	X	-	2	2	HIST1H4D	26296973	0.771000	0.28555	0.024000	0.17045	0.054000	0.15201	-0.010000	0.12743	-0.974000	0.03550	-0.312000	0.09012	TGA	HIST1H4D	-	NULL	ENSG00000188987		0.537	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	110	0.00	0	C	NM_003539		26188994	26188994	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	nonstop	113	16.18	22	SNP	0.565	A
HIST1H2AG	8969	genome.wustl.edu	37	6	27100956	27100956	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:27100956C>A	ENST00000359193.2	+	1	125	c.106C>A	c.(106-108)Cgc>Agc	p.R36S	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	36						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCGCCTGCTCCGCAAAGGCAA	0.677																																						dbGAP											0													31.0	37.0	35.0					6																	27100956		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.106C>A	6.37:g.27100956C>A	ENSP00000352119:p.Arg36Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R36S	ENST00000359193.2	37	c.106	CCDS4619.1	6	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431249	0.25813	.	.	ENSG00000196787	ENST00000359193	T	0.51574	0.7	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.41097	D	0.000953	T	0.36799	0.0980	.	.	.	0.30628	N	0.757785	P	0.38078	0.617	P	0.46208	0.507	T	0.34925	-0.9809	9	0.87932	D	0	.	9.9258	0.41492	0.2037:0.7963:0.0:0.0	.	36	P0C0S8	H2A1_HUMAN	S	36	ENSP00000352119:R36S	ENSP00000352119:R36S	R	+	1	0	HIST1H2AG	27208935	0.924000	0.31332	0.976000	0.42696	0.177000	0.22998	1.932000	0.40143	2.217000	0.71921	0.655000	0.94253	CGC	HIST1H2AG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196787		0.677	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	HGNC	protein_coding	OTTHUMT00000040137.1	87	0.00	0	C	NM_021064		27100956	27100956	+1	no_errors	ENST00000359193	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	0.996	A
HJURP	55355	genome.wustl.edu	37	2	234746277	234746277	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:234746277C>A	ENST00000411486.2	-	9	2258	c.2193G>T	c.(2191-2193)agG>agT	p.R731S	HJURP_ENST00000432087.1_Missense_Mutation_p.R677S|HJURP_ENST00000441687.1_Missense_Mutation_p.R646S	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	731					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCTCTTCCATCCTGTAAGACG	0.358																																						dbGAP											0													136.0	134.0	135.0					2																	234746277		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2193G>T	2.37:g.234746277C>A	ENSP00000414109:p.Arg731Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.R731S	ENST00000411486.2	37	c.2193	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298273	0.23650	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687	T;T;T	0.08984	3.03;3.03;3.03	3.26	1.45	0.22620	.	1.285240	0.05723	N	0.598015	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	P;P;P	0.42518	0.782;0.557;0.675	B;B;B	0.32864	0.154;0.154;0.122	T	0.36744	-0.9735	10	0.72032	D	0.01	.	5.5748	0.17216	0.0:0.7407:0.0:0.2593	.	646;677;731	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	S	731;677;646	ENSP00000414109:R731S;ENSP00000407208:R677S;ENSP00000401944:R646S	ENSP00000414109:R731S	R	-	3	2	HJURP	234411016	0.005000	0.15991	0.093000	0.20910	0.009000	0.06853	0.250000	0.18235	0.406000	0.25560	0.557000	0.71058	AGG	HJURP	-	NULL	ENSG00000123485		0.358	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	253	0.00	0	C	NM_018410		234746277	234746277	-1	no_errors	ENST00000411486	ensembl	human	known	69_37n	missense	100	10.71	12	SNP	0.117	A
HK2	3099	genome.wustl.edu	37	2	75104436	75104436	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:75104436C>T	ENST00000290573.2	+	8	1619	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	HK2_ENST00000409174.1_Missense_Mutation_p.S312L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	340	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AAAGACATCTCAGACATTGAA	0.552																																						dbGAP											0													122.0	130.0	127.0					2																	75104436		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1019C>T	2.37:g.75104436C>T	ENSP00000290573:p.Ser340Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S340L	ENST00000290573.2	37	c.1019	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019794	0.75275	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97924	-4.61;-4.61	5.07	5.07	0.68467	Hexokinase, C-terminal (1);	0.301552	0.37715	N	0.001963	D	0.98833	0.9606	M	0.91510	3.215	0.80722	D	1	D	0.60160	0.987	D	0.65233	0.933	D	0.99208	1.0875	10	0.66056	D	0.02	-7.0088	16.3236	0.82964	0.0:1.0:0.0:0.0	.	340	P52789	HXK2_HUMAN	L	340;340;312	ENSP00000290573:S340L;ENSP00000387140:S312L	ENSP00000290573:S340L	S	+	2	0	HK2	74957944	1.000000	0.71417	0.987000	0.45799	0.370000	0.29829	5.806000	0.69150	2.793000	0.96121	0.655000	0.94253	TCA	HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.552	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	138	0.00	0	C	NM_000189		75104436	75104436	+1	no_errors	ENST00000290573	ensembl	human	known	69_37n	missense	84	15.15	15	SNP	1.000	T
HJURP	55355	genome.wustl.edu	37	2	234749380	234749380	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:234749380T>A	ENST00000411486.2	-	8	2111	c.2046A>T	c.(2044-2046)agA>agT	p.R682S	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.R628S|HJURP_ENST00000441687.1_Missense_Mutation_p.R597S	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	682					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ATAGCCTGGGTCTTTTTGCAG	0.592																																						dbGAP											0													85.0	88.0	87.0					2																	234749380		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2046A>T	2.37:g.234749380T>A	ENSP00000414109:p.Arg682Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.R682S	ENST00000411486.2	37	c.2046	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096736	0.36952	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687	T;T;T	0.18016	2.24;2.27;2.26	4.28	0.584	0.17422	.	0.212975	0.31507	N	0.007521	T	0.29817	0.0745	L	0.61218	1.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.07424	-1.0773	10	0.87932	D	0	-23.5555	3.4084	0.07350	0.0:0.2227:0.2047:0.5727	.	597;628;682	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	S	682;628;597	ENSP00000414109:R682S;ENSP00000407208:R628S;ENSP00000401944:R597S	ENSP00000414109:R682S	R	-	3	2	HJURP	234414119	0.277000	0.24220	0.004000	0.12327	0.028000	0.11728	0.455000	0.21843	0.094000	0.17404	0.460000	0.39030	AGA	HJURP	-	NULL	ENSG00000123485		0.592	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	123	0.00	0	T	NM_018410		234749380	234749380	-1	no_errors	ENST00000411486	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	0.005	A
HLCS	3141	genome.wustl.edu	37	21	38139574	38139574	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:38139574C>G	ENST00000399120.1	-	8	2694	c.1464G>C	c.(1462-1464)caG>caC	p.Q488H	HLCS_ENST00000336648.4_Missense_Mutation_p.Q488H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	488	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGCGGTGTCTGAAACATCA	0.542																																						dbGAP											0													104.0	88.0	94.0					21																	38139574		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1464G>C	21.37:g.38139574C>G	ENSP00000382071:p.Gln488His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.Q488H	ENST00000399120.1	37	c.1464	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146260	0.37923	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94092	-3.35;-3.35	6.11	6.11	0.99139	Biotin/lipoate A/B protein ligase (1);	0.542019	0.20459	N	0.091924	D	0.86834	0.6028	N	0.10809	0.05	0.27183	N	0.960622	B	0.02656	0.0	B	0.06405	0.002	T	0.76764	-0.2839	10	0.44086	T	0.13	.	16.1318	0.81446	0.0:0.8673:0.1327:0.0	.	488	P50747	BPL1_HUMAN	H	488	ENSP00000382071:Q488H;ENSP00000338387:Q488H	ENSP00000338387:Q488H	Q	-	3	2	HLCS	37061444	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.446000	0.44908	2.906000	0.99361	0.655000	0.94253	CAG	HLCS	-	pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase	ENSG00000159267		0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	104	0.00	0	C			38139574	38139574	-1	no_errors	ENST00000336648	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	0.997	G
HNRNPA2B1	3181	genome.wustl.edu	37	7	26236568	26236568	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:26236568C>G	ENST00000354667.4	-	5	538	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E112Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	124	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGATGTTCCTCAGTATCTTCT	0.388			T	ETV1	prostate																																	dbGAP		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													159.0	157.0	158.0					7																	26236568		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.370G>C	7.37:g.26236568C>G	ENSP00000346694:p.Glu124Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.E124Q	ENST00000354667.4	37	c.370	CCDS43557.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599767	0.87055	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	T;T	0.74421	-0.84;-0.84	6.06	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.78336	0.4267	L	0.37750	1.13	0.45295	D	0.998298	D;P	0.63880	0.993;0.93	P;B	0.59546	0.859;0.437	T	0.80303	-0.1439	10	0.59425	D	0.04	.	15.4188	0.74995	0.0:0.9336:0.0:0.0664	.	112;124	P22626-2;P22626	.;ROA2_HUMAN	Q	124;112;112	ENSP00000346694:E124Q;ENSP00000349101:E112Q	ENSP00000346694:E124Q	E	-	1	0	HNRNPA2B1	26203093	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.663000	0.83820	1.579000	0.49836	-0.145000	0.13849	GAG	HNRNPA2B1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122566		0.388	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	275	0.00	0	C	NM_002137		26236568	26236568	-1	no_errors	ENST00000354667	ensembl	human	known	69_37n	missense	160	11.60	21	SNP	1.000	G
HNRNPC	3183	genome.wustl.edu	37	14	21702335	21702335	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:21702335G>A	ENST00000320084.7	-	2	257	c.18C>T	c.(16-18)acC>acT	p.T6T	HNRNPC_ENST00000553753.1_Silent_p.T6T|HNRNPC_ENST00000555914.1_Silent_p.T6T|HNRNPC_ENST00000556142.1_Silent_p.T6T|HNRNPC_ENST00000556897.1_Silent_p.T6T|HNRNPC_ENST00000556513.1_Silent_p.T6T|HNRNPC_ENST00000555883.1_Silent_p.T6T|HNRNPC_ENST00000430246.2_Silent_p.T6T|HNRNPC_ENST00000554455.1_Silent_p.T6T|HNRNPC_ENST00000557201.1_Silent_p.T6T|HNRNPC_ENST00000420743.2_Silent_p.T6T|HNRNPC_ENST00000336053.6_Silent_p.T6T|HNRNPC_ENST00000555309.1_Silent_p.T6T|HNRNPC_ENST00000556628.1_Silent_p.T6T|HNRNPC_ENST00000449098.1_Silent_p.T6T|HNRNPC_ENST00000554969.1_Silent_p.T6T|HNRNPC_ENST00000553300.1_Silent_p.T6T	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	6					3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGTCTTGTTGGTAACGTTGC	0.413																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													111.0	108.0	109.0					14																	21702335		2152	4277	6429	-	-	-	SO:0001819	synonymous_variant	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.18C>T	14.37:g.21702335G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Silent	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.T6	ENST00000320084.7	37	c.18	CCDS41915.1	14																																																																																			HNRNPC	-	pirsf_hnRNP_C_Raly	ENSG00000092199		0.413	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	313	0.00	0	G			21702335	21702335	-1	no_errors	ENST00000320084	ensembl	human	known	69_37n	silent	197	13.97	32	SNP	1.000	A
HNRNPU	3192	genome.wustl.edu	37	1	245020071	245020071	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:245020071C>G	ENST00000283179.9	-	9	1865	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.E549Q			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	568					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCAGCAATCTCAATAAATTTC	0.383																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													83.0	94.0	90.0					1																	245020071		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1702G>C	1.37:g.245020071C>G	ENSP00000283179:p.Glu568Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.E568Q	ENST00000283179.9	37	c.1702	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963332	0.53507	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.46819	0.86;0.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	L	0.41710	1.295	0.80722	D	1	D;P;P;D	0.69078	0.997;0.537;0.592;0.997	D;B;P;D	0.81914	0.995;0.237;0.45;0.992	T	0.46978	-0.9152	10	0.07482	T	0.82	-14.3134	19.7037	0.96065	0.0:1.0:0.0:0.0	.	493;549;568;292	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	Q	549;568;493	ENSP00000393151:E549Q;ENSP00000283179:E568Q	ENSP00000283179:E568Q	E	-	1	0	HNRNPU	243086694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.649000	0.89929	0.557000	0.71058	GAG	HNRNPU	-	pfam_Zeta_toxin_domain	ENSG00000153187		0.383	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	133	0.00	0	C	NM_031844		245020071	245020071	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	64	15.58	12	SNP	1.000	G
HNRNPUL1	11100	genome.wustl.edu	37	19	41798307	41798307	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:41798307G>A	ENST00000392006.3	+	8	1330	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R386K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R286K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R272K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R286K|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R297K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R286K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	386	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCGGACAGAGAGCAGAGCCC	0.562																																						dbGAP											0													137.0	128.0	131.0					19																	41798307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1157G>A	19.37:g.41798307G>A	ENSP00000375863:p.Arg386Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.R386K	ENST00000392006.3	37	c.1157	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637634	0.29157	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	6.04	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.087219	0.64402	D	0.000001	T	0.46889	0.1416	N	0.05078	-0.115	0.31712	N	0.639369	B;B;B;B;B;B	0.23854	0.025;0.009;0.041;0.092;0.025;0.02	B;B;B;B;B;B	0.26202	0.055;0.055;0.032;0.067;0.055;0.032	T	0.44922	-0.9296	10	0.02654	T	1	-22.2148	14.2525	0.66028	0.0721:0.0:0.9279:0.0	.	297;286;386;272;386;286	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	K	286;386;272;297	ENSP00000340857:R286K;ENSP00000375863:R386K;ENSP00000367460:R272K;ENSP00000263367:R297K	ENSP00000263367:R297K	R	+	2	0	HNRNPUL1	46490147	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.782000	0.38654	1.577000	0.49804	-0.251000	0.11542	AGA	HNRNPUL1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000105323		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	209	0.00	0	G	NM_144732, NM_007040		41798307	41798307	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	missense	126	16.56	25	SNP	1.000	A
HOOK1	51361	genome.wustl.edu	37	1	60302572	60302572	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:60302572C>T	ENST00000371208.3	+	7	759	c.502C>T	c.(502-504)Cct>Tct	p.P168S	HOOK1_ENST00000395561.2_Missense_Mutation_p.P126S|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	168	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					ATTGAGCTCTCCTCCAAATGA	0.299																																						dbGAP											0													89.0	97.0	94.0					1																	60302572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.502C>T	1.37:g.60302572C>T	ENSP00000360252:p.Pro168Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin	p.P168S	ENST00000371208.3	37	c.502	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.600474	0.00849	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.17370	2.28;2.28	5.71	-0.426	0.12314	.	0.703512	0.15438	N	0.262325	T	0.05960	0.0155	N	0.12471	0.22	0.20307	N	0.999913	B	0.10296	0.003	B	0.09377	0.004	T	0.38286	-0.9668	10	0.08599	T	0.76	.	2.4083	0.04418	0.1005:0.3408:0.1701:0.3886	.	168	Q9UJC3	HOOK1_HUMAN	S	168;126	ENSP00000360252:P168S;ENSP00000378928:P126S	ENSP00000360252:P168S	P	+	1	0	HOOK1	60075160	0.000000	0.05858	0.582000	0.28627	0.147000	0.21601	-0.039000	0.12124	-0.029000	0.13827	0.650000	0.86243	CCT	HOOK1	-	pfam_HOOK	ENSG00000134709		0.299	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	287	0.00	0	C	NM_015888		60302572	60302572	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	missense	146	16.57	29	SNP	0.076	T
HOXA2	3199	genome.wustl.edu	37	7	27140817	27140817	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:27140817G>A	ENST00000222718.5	-	2	969	c.659C>T	c.(658-660)tCc>tTc	p.S220F	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	220					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TACTTTCTCGGAGTCCTCAAG	0.512																																						dbGAP											0													118.0	104.0	109.0					7																	27140817		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.659C>T	7.37:g.27140817G>A	ENSP00000222718:p.Ser220Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K3|B2RMW3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S220F	ENST00000222718.5	37	c.659	CCDS5403.1	7	.	.	.	.	.	.	.	.	.	.	G	6.834	0.523106	0.13066	.	.	ENSG00000105996	ENST00000222718	T	0.09817	2.94	5.45	5.45	0.79879	.	0.242002	0.41294	D	0.000906	T	0.10852	0.0265	L	0.40543	1.245	0.49582	D	0.999805	B	0.02656	0.0	B	0.06405	0.002	T	0.14896	-1.0456	10	0.08179	T	0.78	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	220	O43364	HXA2_HUMAN	F	220	ENSP00000222718:S220F	ENSP00000222718:S220F	S	-	2	0	HOXA2	27107342	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	4.083000	0.57643	2.716000	0.92895	0.655000	0.94253	TCC	HOXA2	-	NULL	ENSG00000105996		0.512	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	153	0.00	0	G			27140817	27140817	-1	no_errors	ENST00000222718	ensembl	human	known	69_37n	missense	92	10.68	11	SNP	0.991	A
HOXB4	3214	genome.wustl.edu	37	17	46655607	46655607	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:46655607C>A	ENST00000332503.5	-	1	1866	c.75G>T	c.(73-75)caG>caT	p.Q25H	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	25	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTAATCGCTCTGTGAATATT	0.567																																						dbGAP											0													34.0	39.0	37.0					17																	46655607		2197	4290	6487	-	-	-	SO:0001583	missense	0				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.75G>T	17.37:g.46655607C>A	ENSP00000328928:p.Gln25His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTA0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.Q25H	ENST00000332503.5	37	c.75	CCDS11529.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472720	0.43942	.	.	ENSG00000182742	ENST00000332503	D	0.81996	-1.56	3.69	3.69	0.42338	.	0.238291	0.36134	U	0.002764	T	0.75503	0.3858	L	0.45352	1.415	0.34128	D	0.664964	P	0.37398	0.593	B	0.38194	0.267	T	0.78602	-0.2140	10	0.25106	T	0.35	.	10.4966	0.44780	0.0:0.8012:0.1988:0.0	.	25	P17483	HXB4_HUMAN	H	25	ENSP00000328928:Q25H	ENSP00000328928:Q25H	Q	-	3	2	HOXB4	44010606	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.082000	0.30803	1.625000	0.50366	0.306000	0.20318	CAG	HOXB4	-	NULL	ENSG00000182742		0.567	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	41	0.00	0	C			46655607	46655607	-1	no_errors	ENST00000332503	ensembl	human	known	69_37n	missense	15	16.67	3	SNP	1.000	A
HOXB4	3214	genome.wustl.edu	37	17	46655621	46655621	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:46655621C>G	ENST00000332503.5	-	1	1852	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	21	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GAATATTCCTCGCATGGAGGG	0.502																																						dbGAP											0													34.0	40.0	38.0					17																	46655621		2198	4290	6488	-	-	-	SO:0001583	missense	0				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.61G>C	17.37:g.46655621C>G	ENSP00000328928:p.Glu21Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTA0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E21Q	ENST00000332503.5	37	c.61	CCDS11529.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354437	0.82243	.	.	ENSG00000182742	ENST00000332503	T	0.52057	0.68	3.91	3.91	0.45181	.	0.203851	0.39909	U	0.001235	T	0.69753	0.3146	M	0.85197	2.74	0.47621	D	0.99947	D	0.89917	1.0	D	0.97110	1.0	T	0.72070	-0.4401	10	0.31617	T	0.26	.	14.7296	0.69372	0.0:1.0:0.0:0.0	.	21	P17483	HXB4_HUMAN	Q	21	ENSP00000328928:E21Q	ENSP00000328928:E21Q	E	-	1	0	HOXB4	44010620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.412000	0.80091	1.744000	0.51775	0.306000	0.20318	GAG	HOXB4	-	NULL	ENSG00000182742		0.502	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	44	0.00	0	C			46655621	46655621	-1	no_errors	ENST00000332503	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	1.000	G
HPD	3242	genome.wustl.edu	37	12	122294313	122294313	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:122294313C>T	ENST00000289004.4	-	6	277		c.e6-1		HPD_ENST00000543163.1_Splice_Site|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCGCCCATCTCTGTGGCCGGC	0.582																																						dbGAP											0													153.0	110.0	125.0					12																	122294313		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.242-1G>A	12.37:g.122294313C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K461|B3KQ63|Q13234	Splice_Site	SNP	-	e6-1	ENST00000289004.4	37	c.242-1	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330886	0.41297	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4661	0.94943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPD	120778696	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	7.300000	0.78841	2.672000	0.90937	0.555000	0.69702	.	HPD	-	-	ENSG00000158104		0.582	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	241	0.00	0	C	NM_002150	Intron	122294313	122294313	-1	no_errors	ENST00000289004	ensembl	human	known	69_37n	splice_site	146	12.05	20	SNP	1.000	T
HPS1	3257	genome.wustl.edu	37	10	100179913	100179913	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:100179913G>A	ENST00000325103.6	-	18	1979	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.V582V	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	582					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCAGAGACCAGACCTGGGGAA	0.592									Hermansky-Pudlak syndrome																													dbGAP											0													126.0	110.0	115.0					10																	100179913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1746C>T	10.37:g.100179913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	NULL	p.V582	ENST00000325103.6	37	c.1746	CCDS7475.1	10																																																																																			HPS1	-	NULL	ENSG00000107521		0.592	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	105	0.00	0	G	NM_000195, NM_182637, NM_182638, NM_182639		100179913	100179913	-1	no_errors	ENST00000325103	ensembl	human	known	69_37n	silent	53	13.11	8	SNP	0.992	A
HRH3	11255	genome.wustl.edu	37	20	60794791	60794791	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:60794791G>C	ENST00000340177.5	-	1	520	c.236C>G	c.(235-237)tCc>tGc	p.S79C	HRH3_ENST00000317393.6_Missense_Mutation_p.S79C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	79					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GAGGAAGTCGGAGATGGCGAG	0.692																																						dbGAP											0													55.0	55.0	55.0					20																	60794791		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.236C>G	20.37:g.60794791G>C	ENSP00000342560:p.Ser79Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H3_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt	p.S79C	ENST00000340177.5	37	c.236	CCDS13493.1	20	.	.	.	.	.	.	.	.	.	.	g	19.56	3.851442	0.71719	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.74421	-0.84;-0.84	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.83161	0.5194	M	0.79693	2.465	0.42153	D	0.991561	D;P;B;P	0.63046	0.992;0.536;0.382;0.599	P;B;B;B	0.57548	0.823;0.398;0.199;0.245	D	0.86784	0.1981	10	0.87932	D	0	-20.7373	14.1535	0.65403	0.0:0.0:1.0:0.0	.	79;79;79;79	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	C	79	ENSP00000342560:S79C;ENSP00000321482:S79C	ENSP00000321482:S79C	S	-	2	0	HRH3	60228186	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.222000	0.78025	1.374000	0.46228	0.306000	0.20318	TCC	HRH3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000101180		0.692	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	HGNC	protein_coding	OTTHUMT00000079994.1	33	0.00	0	G	NM_007232		60794791	60794791	-1	no_errors	ENST00000317393	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	1.000	C
HSD17B10	3028	genome.wustl.edu	37	X	53459270	53459270	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:53459270G>A	ENST00000168216.6	-	3	309	c.282C>T	c.(280-282)atC>atT	p.I94I	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000375304.5_Silent_p.I94I|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375298.4_Silent_p.I94I	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	94					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						TAGCCACCGCGATGCCTGCAC	0.507																																						dbGAP											0													136.0	104.0	115.0					X																	53459270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.282C>T	X.37:g.53459270G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.I94	ENST00000168216.6	37	c.282	CCDS14354.1	X																																																																																			HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072506		0.507	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1	252	0.00	0	G	NM_004493		53459270	53459270	-1	no_errors	ENST00000168216	ensembl	human	known	69_37n	silent	116	18.88	27	SNP	0.994	A
IARS	3376	genome.wustl.edu	37	9	95050514	95050514	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:95050514C>T	ENST00000375643.3	-	3	436	c.170G>A	c.(169-171)gGa>gAa	p.G57E	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.G57E|IARS_ENST00000447699.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	57					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTATATGTCCATAGTGAGG	0.368																																						dbGAP											0													97.0	91.0	93.0					9																	95050514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.170G>A	9.37:g.95050514C>T	ENSP00000364794:p.Gly57Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.G57E	ENST00000375643.3	37	c.170	CCDS6694.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.436300|5.436300	0.96168|0.96168	.|.	.|.	ENSG00000196305|ENSG00000196305	ENST00000543028;ENST00000421189|ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	.|D;D;D	.|0.85629	.|-2.01;-2.01;-2.01	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96842|0.96842	0.8969|0.8969	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98245|0.98245	1.0490|1.0490	6|10	0.15952|0.87932	T|D	0.53|0	-24.8254|-24.8254	20.1519|20.1519	0.98089|0.98089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|57	.|P41252	.|SYIC_HUMAN	N|E	14|57	.|ENSP00000364794:G57E;ENSP00000406448:G57E;ENSP00000378922:G57E	ENSP00000406483:D14N|ENSP00000364794:G57E	D|G	-|-	1|2	0|0	IARS|IARS	94090335|94090335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.765000|7.765000	0.85310|0.85310	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAC|GGA	IARS	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt	ENSG00000196305		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	178	0.00	0	C	NM_002161		95050514	95050514	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	missense	86	15.69	16	SNP	1.000	T
IDE	3416	genome.wustl.edu	37	10	94239162	94239162	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:94239162C>G	ENST00000265986.6	-	15	1812	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Missense_Mutation_p.D31H	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	586				D -> G (in Ref. 3; BAG35668). {ECO:0000305}.	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)"""	TGCAAGGGGTCCACATAAGCA	0.413																																						dbGAP											0													145.0	124.0	131.0					10																	94239162		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1756G>C	10.37:g.94239162C>G	ENSP00000265986:p.Asp586His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D586H	ENST00000265986.6	37	c.1756	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697267	0.68386	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.32515	1.45;1.45	5.4	5.4	0.78164	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.054869	0.64402	D	0.000001	T	0.58850	0.2151	M	0.81112	2.525	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.63629	-0.6594	10	0.72032	D	0.01	-15.2717	18.7788	0.91924	0.0:1.0:0.0:0.0	.	586	P14735	IDE_HUMAN	H	586;31	ENSP00000265986:D586H;ENSP00000360637:D31H	ENSP00000265986:D586H	D	-	1	0	IDE	94229142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.544000	0.85801	0.655000	0.94253	GAC	IDE	-	superfamily_Metalloenz_metal-bd	ENSG00000119912		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	219	0.00	0	C	NM_004969		94239162	94239162	-1	no_errors	ENST00000265986	ensembl	human	known	69_37n	missense	109	14.17	18	SNP	1.000	G
IDS	3423	genome.wustl.edu	37	X	148564415	148564415	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:148564415G>A	ENST00000340855.6	-	9	1724	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IDS_ENST00000537071.1_Silent_p.F108F|IDS_ENST00000422081.2_Silent_p.F294F|IDS_ENST00000541269.1_Silent_p.F294F	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	505					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CATCAGGATTGAAGCCAACCC	0.398																																						dbGAP											0													118.0	112.0	114.0					X																	148564415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1515C>T	X.37:g.148564415G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT4|Q14604|Q9BRM3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.F505	ENST00000340855.6	37	c.1515	CCDS14685.1	X																																																																																			IDS	-	superfamily_Alkaline_phosphatase_core	ENSG00000010404		0.398	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	138	0.00	0	G			148564415	148564415	-1	no_errors	ENST00000340855	ensembl	human	known	69_37n	silent	87	10.31	10	SNP	0.009	A
IFIT2	3433	genome.wustl.edu	37	10	91066854	91066854	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:91066854C>A	ENST00000371826.3	+	2	1310	c.1141C>A	c.(1141-1143)Cag>Aag	p.Q381K	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	381					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGGCAACTTTCAGCTGTACCA	0.403																																						dbGAP											0													91.0	86.0	88.0					10																	91066854		1910	4126	6036	-	-	-	SO:0001583	missense	0			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1141C>A	10.37:g.91066854C>A	ENSP00000360891:p.Gln381Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q381K	ENST00000371826.3	37	c.1141	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076116	0.76415	.	.	ENSG00000119922	ENST00000371826	T	0.15603	2.41	4.58	4.58	0.56647	Tetratricopeptide-like helical (1);	0.613366	0.14349	U	0.325236	T	0.35189	0.0923	M	0.79258	2.445	0.39047	D	0.960246	D	0.56521	0.976	P	0.52598	0.703	T	0.13953	-1.0490	10	0.28530	T	0.3	-10.5926	17.6427	0.88141	0.0:1.0:0.0:0.0	.	381	P09913	IFIT2_HUMAN	K	381	ENSP00000360891:Q381K	ENSP00000360891:Q381K	Q	+	1	0	IFIT2	91056834	0.877000	0.30153	0.974000	0.42286	0.989000	0.77384	1.459000	0.35234	2.832000	0.97577	0.655000	0.94253	CAG	IFIT2	-	NULL	ENSG00000119922		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	155	0.00	0	C	NM_001547		91066854	91066854	+1	no_errors	ENST00000371826	ensembl	human	known	69_37n	missense	88	11.11	11	SNP	0.995	A
IFT81	28981	genome.wustl.edu	37	12	110581255	110581255	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:110581255G>C	ENST00000242591.5	+	9	1356	c.850G>C	c.(850-852)Gaa>Caa	p.E284Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E284Q|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.E284Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	284					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ATTTCCTAAAGAATTAGAAAA	0.274																																						dbGAP											0													21.0	23.0	22.0					12																	110581255		2075	4235	6310	-	-	-	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.850G>C	12.37:g.110581255G>C	ENSP00000242591:p.Glu284Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.E284Q	ENST00000242591.5	37	c.850	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442469	0.83993	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.38240	1.15	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.975;0.994	T	0.66380	-0.5938	10	0.42905	T	0.14	-18.6306	18.7812	0.91933	0.0:0.0:1.0:0.0	.	284;284	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	Q	284;284;284;254	ENSP00000355372:E284Q	ENSP00000242591:E284Q	E	+	1	0	IFT81	109065638	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.804000	0.91921	2.498000	0.84270	0.563000	0.77884	GAA	IFT81	-	NULL	ENSG00000122970		0.274	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	29	0.00	0	G	NM_014055		110581255	110581255	+1	no_errors	ENST00000242591	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	C
IGFN1	91156	genome.wustl.edu	37	1	201176276	201176276	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:201176276C>T	ENST00000335211.4	+	12	2385	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGAAGACTCACTGCAGGAG	0.532																																						dbGAP											0													56.0	52.0	54.0					1																	201176276		692	1591	2283	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.2255C>T	1.37:g.201176276C>T	ENSP00000334714:p.Ser752Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAI1|Q9NT72	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.S752L	ENST00000335211.4	37	c.2255	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913610	0.33815	.	.	ENSG00000163395	ENST00000335211	T	0.61510	0.1	4.05	1.1	0.20463	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999997	.	.	.	.	.	.	T	0.16867	-1.0388	6	.	.	.	.	3.8357	0.08893	0.0:0.5679:0.2035:0.2286	.	.	.	.	L	752	ENSP00000334714:S752L	.	S	+	2	0	IGFN1	199442899	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.055000	0.11807	0.050000	0.15949	0.655000	0.94253	TCA	IGFN1	-	NULL	ENSG00000163395		0.532	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		82	0.00	0	C	NM_178275		201176276	201176276	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	0.001	T
IGHM	3507	genome.wustl.edu	37	14	106321092	106321092	+	RNA	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:106321092C>T	ENST00000390559.2	-	0	896				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.5_ENST00000582202.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACGTGAACCTCTCCCCGGAAT	0.617																																						dbGAP											0													101.0	121.0	114.0					14																	106321092		2122	4207	6329	-	-	-			0			X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321092C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P20769	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	p.E299	ENST00000390559.2	37	c.897		14																																																																																			IGHM	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211899		0.617	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHM	HGNC	IG_C_gene	OTTHUMT00000326272.1	288	0.00	0	C	NG_001019		106321092	106321092	-1	no_start_codon	ENST00000390559	ensembl	human	known	69_37n	silent	171	11.40	22	SNP	0.000	T
IGSF5	150084	genome.wustl.edu	37	21	41137565	41137565	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:41137565C>G	ENST00000380588.4	+	3	307	c.204C>G	c.(202-204)ctC>ctG	p.L68L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	68	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCTGGAAGCTCATCATGTGGG	0.577																																						dbGAP											0													88.0	69.0	76.0					21																	41137565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.204C>G	21.37:g.41137565C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.L68	ENST00000380588.4	37	c.204	CCDS33562.1	21																																																																																			IGSF5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000183067		0.577	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IGSF5	HGNC	protein_coding	OTTHUMT00000195005.1	99	0.00	0	C			41137565	41137565	+1	no_errors	ENST00000380588	ensembl	human	novel	69_37n	silent	52	14.75	9	SNP	0.361	G
IL16	3603	genome.wustl.edu	37	15	81572015	81572015	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:81572015C>T	ENST00000302987.4	+	7	981	c.981C>T	c.(979-981)atC>atT	p.I327I	IL16_ENST00000394660.2_Silent_p.I327I			Q14005	IL16_HUMAN	interleukin 16	327	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCACTTGTATCACCAAGGACA	0.607																																						dbGAP											0													49.0	53.0	52.0					15																	81572015		1994	4158	6152	-	-	-	SO:0001819	synonymous_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.981C>T	15.37:g.81572015C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H44Y	ENST00000302987.4	37	c.130	CCDS42069.1	15																																																																																			IL16	-	superfamily_PDZ	ENSG00000172349		0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	127	0.00	0	C	NM_172217		81572015	81572015	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560115	ensembl	human	known	69_37n	missense	45	23.33	14	SNP	0.020	T
IL24	11009	genome.wustl.edu	37	1	207074880	207074880	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:207074880C>G	ENST00000294984.2	+	5	619	c.345C>G	c.(343-345)ttC>ttG	p.F115L	IL24_ENST00000391929.3_Missense_Mutation_p.F116L|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000367093.3_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	115					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					TGCTGGAGTTCTACTTGAAAA	0.498																																						dbGAP											0													111.0	101.0	104.0					1																	207074880		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.345C>G	1.37:g.207074880C>G	ENSP00000294984:p.Phe115Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core,prints_Interleukin-24	p.F115L	ENST00000294984.2	37	c.345	CCDS1471.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580884	0.46006	.	.	ENSG00000162892	ENST00000391929;ENST00000294984	T;T	0.21031	2.03;2.03	4.72	2.66	0.31614	Interleukin-10, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	L	0.46741	1.465	0.80722	D	1	P;P	0.51537	0.884;0.946	P;P	0.52646	0.636;0.705	T	0.07927	-1.0747	10	0.31617	T	0.26	.	2.6735	0.05075	0.2781:0.5415:0.0:0.1803	.	116;115	Q53XZ7;Q13007	.;IL24_HUMAN	L	116;115	ENSP00000375795:F116L;ENSP00000294984:F115L	ENSP00000294984:F115L	F	+	3	2	IL24	205141503	1.000000	0.71417	0.925000	0.36789	0.844000	0.47949	1.032000	0.30178	0.492000	0.27815	0.555000	0.69702	TTC	IL24	-	superfamily_4_helix_cytokine-like_core,prints_Interleukin-24	ENSG00000162892		0.498	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL24	HGNC	protein_coding	OTTHUMT00000088680.2	192	0.00	0	C	NM_006850		207074880	207074880	+1	no_errors	ENST00000294984	ensembl	human	known	69_37n	missense	118	14.29	20	SNP	0.984	G
ILF3	3609	genome.wustl.edu	37	19	10781688	10781688	+	Silent	SNP	G	G	C	rs145183598		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:10781688G>C	ENST00000590261.1	+	2	42	c.42G>C	c.(40-42)gtG>gtC	p.V14V	ILF3_ENST00000449870.1_Silent_p.V14V|ILF3_ENST00000592763.1_Silent_p.V14V|ILF3_ENST00000250241.8_Silent_p.V14V|ILF3_ENST00000407004.3_Silent_p.V14V|ILF3_ENST00000318511.3_Silent_p.V14V|ILF3_ENST00000589998.1_Silent_p.V14V|ILF3_ENST00000588657.1_Silent_p.V14V|ILF3_ENST00000420083.1_Silent_p.V14V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	14	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACCGCCATGTGATGGCAAAGC	0.483																																						dbGAP											0													64.0	57.0	59.0					19																	10781688		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.42G>C	19.37:g.10781688G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.V14	ENST00000590261.1	37	c.42	CCDS12246.1	19																																																																																			ILF3	-	NULL	ENSG00000129351		0.483	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	156	0.00	0	G			10781688	10781688	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	silent	68	11.54	9	SNP	0.997	C
INPP1	3628	genome.wustl.edu	37	2	191233908	191233908	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:191233908C>T	ENST00000322522.4	+	5	1002	c.546C>T	c.(544-546)gtC>gtT	p.V182V	INPP1_ENST00000392329.2_Silent_p.V182V|INPP1_ENST00000541441.1_Silent_p.V182V	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	182					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			TTCAGTGTGTCACCATTTTAA	0.413																																					Melanoma(130;184 1743 2185 19805 38428)	dbGAP											0													119.0	117.0	117.0					2																	191233908		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.546C>T	2.37:g.191233908C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Inositol_monophosphatase	p.V182	ENST00000322522.4	37	c.546	CCDS2305.1	2																																																																																			INPP1	-	pfam_Inositol_monophosphatase	ENSG00000151689		0.413	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	176	0.00	0	C			191233908	191233908	+1	no_errors	ENST00000322522	ensembl	human	known	69_37n	silent	120	11.76	16	SNP	0.996	T
INTS3	65123	genome.wustl.edu	37	1	153730149	153730149	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:153730149C>T	ENST00000318967.2	+	10	1627	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	INTS3_ENST00000456435.1_Silent_p.I147I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I353I|INTS3_ENST00000512605.1_Silent_p.I147I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	354					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCGCTACATCTGTGGGGTAG	0.517																																						dbGAP											0													160.0	133.0	142.0					1																	153730149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1059C>T	1.37:g.153730149C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Integrator_3	p.I353	ENST00000318967.2	37	c.1059	CCDS1052.1	1																																																																																			INTS3	-	pfam_Integrator_3	ENSG00000143624		0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	182	0.00	0	C	NM_023015		153730149	153730149	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	silent	107	25.52	37	SNP	1.000	T
INTS4	92105	genome.wustl.edu	37	11	77632422	77632422	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:77632422G>A	ENST00000534064.1	-	14	1762	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	576					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GACTGTCTCGGAGGTAGGCAT	0.408																																						dbGAP											0													128.0	111.0	116.0					11																	77632422		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1728C>T	11.37:g.77632422G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L576	ENST00000534064.1	37	c.1728	CCDS31644.1	11																																																																																			INTS4	-	NULL	ENSG00000149262		0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	170	0.00	0	G	NM_033547		77632422	77632422	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	silent	81	17.35	17	SNP	1.000	A
IPO11	51194	genome.wustl.edu	37	5	61763034	61763034	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:61763034C>G	ENST00000325324.6	+	6	762	c.593C>G	c.(592-594)tCt>tGt	p.S198C	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S238C	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	198					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GAAGTTTCTTCTGGCAATGAA	0.368																																						dbGAP											0													128.0	126.0	126.0					5																	61763034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.593C>G	5.37:g.61763034C>G	ENSP00000316651:p.Ser198Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S238C	ENST00000325324.6	37	c.713	CCDS34167.1	5	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068732	0.55539	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.69435	-0.4;-0.4	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.249550	0.40640	N	0.001052	T	0.62913	0.2467	L	0.53249	1.67	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.60786	-0.7194	10	0.56958	D	0.05	.	14.3832	0.66926	0.0:0.851:0.149:0.0	.	238;198	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	C	198;238	ENSP00000316651:S198C;ENSP00000386992:S238C	ENSP00000316651:S198C	S	+	2	0	IPO11	61798791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.677000	0.46892	2.570000	0.86706	0.655000	0.94253	TCT	IPO11	-	superfamily_ARM-type_fold	ENSG00000086200		0.368	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	381	0.00	0	C	NM_016338		61763034	61763034	+1	no_errors	ENST00000409296	ensembl	human	known	69_37n	missense	155	17.46	33	SNP	1.000	G
IRF2BPL	64207	genome.wustl.edu	37	14	77492921	77492921	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:77492921G>A	ENST00000238647.3	-	1	2113	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	405					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGACGGCGTCGAAGGCGAAAA	0.617																																						dbGAP											0													51.0	41.0	45.0					14																	77492921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1215C>T	14.37:g.77492921G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.F405	ENST00000238647.3	37	c.1215	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.617	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	24	0.00	0	G	NM_024496		77492921	77492921	-1	no_errors	ENST00000238647	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	A
IRS4	8471	genome.wustl.edu	37	X	107976538	107976538	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:107976538C>G	ENST00000372129.2	-	1	3113	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1013					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TAGTCACCCTCTTCCTCAATA	0.493																																						dbGAP											0													94.0	84.0	88.0					X																	107976538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3037G>C	X.37:g.107976538C>G	ENSP00000361202:p.Glu1013Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E1013Q	ENST00000372129.2	37	c.3037	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988810	0.53934	.	.	ENSG00000133124	ENST00000372129	T	0.45668	0.89	5.38	4.52	0.55395	.	0.482695	0.22236	N	0.062749	T	0.22085	0.0532	N	0.24115	0.695	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.09015	-1.0694	10	0.15066	T	0.55	-10.6782	5.4059	0.16320	0.0:0.6401:0.0:0.3599	.	1013	O14654	IRS4_HUMAN	Q	1013	ENSP00000361202:E1013Q	ENSP00000361202:E1013Q	E	-	1	0	IRS4	107863194	0.977000	0.34250	0.034000	0.17996	0.998000	0.95712	2.367000	0.44213	1.232000	0.43678	0.600000	0.82982	GAG	IRS4	-	NULL	ENSG00000133124		0.493	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	102	0.00	0	C	NM_003604		107976538	107976538	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.049	G
ITFG3	83986	genome.wustl.edu	37	16	313755	313755	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:313755G>A	ENST00000399932.3	+	10	1620	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	ITFG3_ENST00000301678.3_Missense_Mutation_p.G390E|ITFG3_ENST00000442458.2_Missense_Mutation_p.G390E|ITFG3_ENST00000600536.1_Missense_Mutation_p.G390E|ITFG3_ENST00000450082.2_Missense_Mutation_p.G390E|ITFG3_ENST00000301679.2_Missense_Mutation_p.G390E	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	390						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTTGAAAACGGAACTGGCACC	0.552																																						dbGAP											0													75.0	82.0	80.0					16																	313755		2004	4174	6178	-	-	-	SO:0001583	missense	0			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1169G>A	16.37:g.313755G>A	ENSP00000382814:p.Gly390Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.G390E	ENST00000399932.3	37	c.1169	CCDS10402.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.65|10.65	1.410121|1.410121	0.25465|0.25465	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000424016|ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.159050	.|0.56097	.|D	.|0.000032	T|T	0.63117|0.63117	0.2484|0.2484	M|M	0.62154|0.62154	1.92|1.92	0.40920|0.40920	D|D	0.984304|0.984304	.|P;P	.|0.48230	.|0.907;0.77	.|P;P	.|0.45712	.|0.491;0.491	T|T	0.60647|0.60647	-0.7222|-0.7222	5|10	.|0.15499	.|T	.|0.54	-9.7035|-9.7035	9.3977|9.3977	0.38412|0.38412	0.1011:0.0:0.8989:0.0|0.1011:0.0:0.8989:0.0	.|.	.|390;390	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	K|E	82|390	.|ENSP00000382814:G390E;ENSP00000301679:G390E;ENSP00000397477:G390E;ENSP00000301678:G390E;ENSP00000411394:G390E	.|ENSP00000301678:G390E	E|G	+|+	1|2	0|0	ITFG3|ITFG3	253756|253756	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.043000|0.043000	0.13939|0.13939	2.873000|2.873000	0.48475|0.48475	2.478000|2.478000	0.83669|0.83669	0.561000|0.561000	0.74099|0.74099	GAA|GGA	ITFG3	-	superfamily_Quinonprotein_ADH-like	ENSG00000167930		0.552	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	106	0.00	0	G	NM_032039		313755	313755	+1	no_errors	ENST00000301678	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	0.982	A
ITGA8	8516	genome.wustl.edu	37	10	15617552	15617552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:15617552C>T	ENST00000378076.3	-	24	2767	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	805					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCTGGTTCCCAGTTATGAAT	0.443																																						dbGAP											0													142.0	128.0	132.0					10																	15617552		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2414G>A	10.37:g.15617552C>T	ENSP00000367316:p.Trp805*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.W805*	ENST00000378076.3	37	c.2414	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	43	10.021291	0.99319	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	18.5323	0.90997	0.0:1.0:0.0:0.0	.	.	.	.	X	805;790	.	ENSP00000367316:W805X	W	-	2	0	ITGA8	15657558	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.264000	0.72527	2.741000	0.93983	0.650000	0.86243	TGG	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.443	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	371	0.00	0	C	NM_003638		15617552	15617552	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	nonsense	160	17.53	34	SNP	1.000	T
ITGAL	3683	genome.wustl.edu	37	16	30485581	30485581	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:30485581G>A	ENST00000356798.6	+	2	306	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ITGAL_ENST00000454514.2_Silent_p.G42G|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Silent_p.G42G|Y_RNA_ENST00000410769.1_RNA|ITGAL_ENST00000433423.2_Silent_p.G42G	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	42					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CGCGCGCCGGGAGGCACTTTG	0.711																																					NSCLC(110;1462 1641 3311 33990 49495)	dbGAP											0													21.0	23.0	22.0					16																	30485581		2191	4286	6477	-	-	-	SO:0001819	synonymous_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.126G>A	16.37:g.30485581G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G42	ENST00000356798.6	37	c.126	CCDS32433.1	16																																																																																			ITGAL	-	smart_Int_alpha_beta-p	ENSG00000005844		0.711	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	23	0.00	0	G			30485581	30485581	+1	no_errors	ENST00000356798	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	1.000	A
ITIH2	3698	genome.wustl.edu	37	10	7768927	7768927	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:7768927G>A	ENST00000358415.4	+	10	1165	c.999G>A	c.(997-999)atG>atA	p.M333I	ITIH2_ENST00000379587.4_Missense_Mutation_p.M322I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	333	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGAAGCAATGAAGACCATAT	0.393																																						dbGAP											0													108.0	102.0	104.0					10																	7768927		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.999G>A	10.37:g.7768927G>A	ENSP00000351190:p.Met333Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.M333I	ENST00000358415.4	37	c.999	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479375	0.84747	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.80566	-1.39;-1.39	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89717	0.3916	10	0.72032	D	0.01	-40.9768	18.4963	0.90866	0.0:0.0:1.0:0.0	.	333	P19823	ITIH2_HUMAN	I	333;322	ENSP00000351190:M333I;ENSP00000368906:M322I	ENSP00000351190:M333I	M	+	3	0	ITIH2	7808933	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.346000	0.97056	2.371000	0.80710	0.551000	0.68910	ATG	ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151655		0.393	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	178	0.00	0	G	NM_002216		7768927	7768927	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	missense	96	11.11	12	SNP	1.000	A
ITIH2	3698	genome.wustl.edu	37	10	7769060	7769060	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:7769060G>A	ENST00000358415.4	+	10	1298	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E367K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	378	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGGTATATTGAGAAAATCCA	0.408																																						dbGAP											0													68.0	73.0	71.0					10																	7769060		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1132G>A	10.37:g.7769060G>A	ENSP00000351190:p.Glu378Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E378K	ENST00000358415.4	37	c.1132	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	12.46	1.946001	0.34377	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.76839	-1.05;-1.05	5.09	4.18	0.49190	von Willebrand factor, type A (3);	0.104155	0.64402	D	0.000003	T	0.73745	0.3626	L	0.29908	0.895	0.35256	D	0.779106	D	0.55605	0.972	P	0.54544	0.755	T	0.72643	-0.4231	10	0.06236	T	0.91	-19.0329	15.146	0.72653	0.0:0.4034:0.5966:0.0	.	378	P19823	ITIH2_HUMAN	K	378;367	ENSP00000351190:E378K;ENSP00000368906:E367K	ENSP00000351190:E378K	E	+	1	0	ITIH2	7809066	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.707000	0.37888	1.135000	0.42183	0.551000	0.68910	GAG	ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151655		0.408	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	211	0.00	0	G	NM_002216		7769060	7769060	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	missense	107	10.08	12	SNP	1.000	A
ITIH2	3698	genome.wustl.edu	37	10	7769779	7769779	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:7769779G>C	ENST00000358415.4	+	11	1433	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H	ITIH2_ENST00000379587.4_Missense_Mutation_p.D412H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	423	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCTGATGGAGATCCAACAGT	0.458																																						dbGAP											0													126.0	101.0	109.0					10																	7769779		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1267G>C	10.37:g.7769779G>C	ENSP00000351190:p.Asp423His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D423H	ENST00000358415.4	37	c.1267	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213836	0.58452	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	D;D	0.82984	-1.67;-1.67	4.77	4.77	0.60923	von Willebrand factor, type A (3);	0.048023	0.85682	D	0.000000	D	0.90335	0.6976	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91555	0.5260	10	0.87932	D	0	-29.8241	18.1524	0.89678	0.0:0.0:1.0:0.0	.	423	P19823	ITIH2_HUMAN	H	423;412	ENSP00000351190:D423H;ENSP00000368906:D412H	ENSP00000351190:D423H	D	+	1	0	ITIH2	7809785	1.000000	0.71417	0.981000	0.43875	0.276000	0.26787	9.275000	0.95738	2.354000	0.79902	0.551000	0.68910	GAT	ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151655		0.458	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	245	0.00	0	G	NM_002216		7769779	7769779	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	missense	103	18.25	23	SNP	1.000	C
ITGB1	3688	genome.wustl.edu	37	10	33199373	33199373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:33199373G>A	ENST00000396033.2	-	14	2077	c.1942C>T	c.(1942-1944)Cag>Tag	p.Q648*	ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q648*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q648*|ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q648*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	648					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GCTCTGCACTGAACACATTCT	0.323																																						dbGAP											0													55.0	56.0	56.0					10																	33199373		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1942C>T	10.37:g.33199373G>A	ENSP00000379350:p.Gln648*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Nonsense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.Q648*	ENST00000396033.2	37	c.1942	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.234071	0.98154	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	.	.	.	5.55	5.55	0.83447	.	0.108891	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.5042	0.95108	0.0:0.0:1.0:0.0	.	.	.	.	X	648	.	ENSP00000303351:Q648X	Q	-	1	0	ITGB1	33239379	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.339000	0.72969	2.626000	0.88956	0.484000	0.47621	CAG	ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail	ENSG00000150093		0.323	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	132	0.00	0	G	NM_002211		33199373	33199373	-1	no_errors	ENST00000374956	ensembl	human	known	69_37n	nonsense	83	11.70	11	SNP	1.000	A
ITIH3	3699	genome.wustl.edu	37	3	52839834	52839834	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:52839834G>A	ENST00000449956.2	+	16	1890	c.1884G>A	c.(1882-1884)gtG>gtA	p.V628V	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	628					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACACCGGTGAGCCCCGCCA	0.642																																						dbGAP											0													60.0	67.0	65.0					3																	52839834		2037	4189	6226	-	-	-	SO:0001819	synonymous_variant	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1884G>A	3.37:g.52839834G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V628	ENST00000449956.2	37	c.1884	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	1.745	-0.490825	0.04322	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	3.96	1.13	0.20643	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33650	-0.9860	5	0.06625	T	0.88	-1.0946	2.6025	0.04870	0.1046:0.1866:0.5161:0.1927	.	.	.	.	K	629;617	.	ENSP00000381662:E629K	E	+	1	0	ITIH3	52814874	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.218000	0.17622	0.232000	0.21100	-0.304000	0.09214	GAG	ITIH3	-	NULL	ENSG00000162267		0.642	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	41	0.00	0	G	NM_002217		52839834	52839834	+1	no_errors	ENST00000449956	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	0.000	A
ITK	3702	genome.wustl.edu	37	5	156675886	156675886	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:156675886G>A	ENST00000422843.3	+	16	1812	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGTTTTCAGTGAAGGCAAAAT	0.502			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	dbGAP		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													121.0	105.0	111.0					5																	156675886		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1660G>A	5.37:g.156675886G>A	ENSP00000398655:p.Glu554Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E554K	ENST00000422843.3	37	c.1660	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.447402	0.96205	.	.	ENSG00000113263	ENST00000422843	T	0.61742	0.08	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.104417	0.64402	D	0.000004	T	0.66237	0.2769	N	0.20807	0.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67715	-0.5599	10	0.52906	T	0.07	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	554	Q08881	ITK_HUMAN	K	554	ENSP00000398655:E554K	ENSP00000398655:E554K	E	+	1	0	ITK	156608464	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	7.805000	0.86005	2.822000	0.97130	0.650000	0.86243	GAA	ITK	-	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	ENSG00000113263		0.502	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	190	0.00	0	G			156675886	156675886	+1	no_errors	ENST00000422843	ensembl	human	known	69_37n	missense	117	17.02	24	SNP	1.000	A
ITPK1	3705	genome.wustl.edu	37	14	93537590	93537590	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:93537590G>C	ENST00000267615.6	-	3	294				ITPK1-AS1_ENST00000553639.1_RNA|ITPK1_ENST00000555495.1_Intron|ITPK1_ENST00000556603.2_Intron|ITPK1_ENST00000354313.3_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CAGGTCTGCAGACAAGTCCAC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.120+5349C>G	14.37:g.93537590G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTL6|Q9H2E7	RNA	SNP	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			ITPK1-AS1	-	-	ENSG00000258730		0.597	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2	20	0.00	0	G	NM_014216		93537590	93537590	+1	no_errors	ENST00000553639	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	0.076	C
ITPR3	3710	genome.wustl.edu	37	6	33608321	33608321	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:33608321G>C	ENST00000374316.5	+	3	1210	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ITPR3_ENST00000605930.1_Missense_Mutation_p.K50N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	50					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACCCCCCTAAGAAGTTCCGTG	0.622																																						dbGAP											0													125.0	138.0	133.0					6																	33608321		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.150G>C	6.37:g.33608321G>C	ENSP00000363435:p.Lys50Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.K50N	ENST00000374316.5	37	c.150	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554300	0.86231	.	.	ENSG00000096433	ENST00000374316	D	0.98701	-5.08	5.15	5.15	0.70609	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.91196	3.185	0.51767	D	0.999935	D	0.89917	1.0	D	0.87578	0.998	D	0.99250	1.0887	10	0.87932	D	0	-39.1311	14.1189	0.65175	0.0:0.0:1.0:0.0	.	50	Q14573	ITPR3_HUMAN	N	50	ENSP00000363435:K50N	ENSP00000363435:K50N	K	+	3	2	ITPR3	33716299	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.391000	0.79828	2.392000	0.81423	0.491000	0.48974	AAG	ITPR3	-	pfam_Ins145_P3_rcpt,prints_InsP3_rcpt-bd	ENSG00000096433		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	181	0.00	0	G	NM_002224		33608321	33608321	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	127	18.06	28	SNP	1.000	C
JRK	8629	genome.wustl.edu	37	8	143747381	143747381	+	RNA	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:143747381C>G	ENST00000507178.2	-	0	429							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tcgcccttctccaggcgcgtg	0.617																																						dbGAP											0													48.0	57.0	54.0					8																	143747381		2121	4222	6343	-	-	-			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143747381C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-	ENSG00000234616		0.617	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	55	0.00	0	C	NM_003724		143747381	143747381	-1	no_errors	ENST00000422119	ensembl	human	known	69_37n	rna	40	11.11	5	SNP	0.984	G
KAT6B	23522	genome.wustl.edu	37	10	76788633	76788633	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:76788633G>C	ENST00000287239.4	+	18	4540	c.4051G>C	c.(4051-4053)Gag>Cag	p.E1351Q	KAT6B_ENST00000372714.1_Missense_Mutation_p.E1059Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1059Q|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1059Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1168Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1351	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATCAAACCTgaggaagagga	0.468																																						dbGAP											0													43.0	44.0	43.0					10																	76788633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4051G>C	10.37:g.76788633G>C	ENSP00000287239:p.Glu1351Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1351Q	ENST00000287239.4	37	c.4051	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	2.403	-0.337188	0.05278	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77489	1.32;1.32;-1.1;1.32;-1.1	4.09	4.09	0.47781	.	0.000000	0.47455	D	0.000231	T	0.70307	0.3209	N	0.24115	0.695	0.33227	D	0.55539	D;B;B	0.52996	0.957;0.378;0.261	P;B;B	0.45856	0.495;0.145;0.069	T	0.80808	-0.1217	10	0.62326	D	0.03	-9.5569	16.3269	0.82986	0.0:0.0:1.0:0.0	.	1168;1059;1351	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	1059;1059;1351;1059;1168	ENSP00000361810:E1059Q;ENSP00000361809:E1059Q;ENSP00000287239:E1351Q;ENSP00000361799:E1059Q;ENSP00000361796:E1168Q	ENSP00000287239:E1351Q	E	+	1	0	KAT6B	76458639	1.000000	0.71417	0.460000	0.27093	0.010000	0.07245	4.949000	0.63596	1.836000	0.53414	0.655000	0.94253	GAG	KAT6B	-	NULL	ENSG00000156650		0.468	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	83	0.00	0	G	NM_012330		76788633	76788633	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	58	12.12	8	SNP	0.758	C
KCNA3	3738	genome.wustl.edu	37	1	111215712	111215712	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:111215712C>T	ENST00000369769.2	-	1	1943	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	574					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TATTAAACATCGGTGAATATC	0.458																																						dbGAP											0													165.0	154.0	158.0					1																	111215712		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1720G>A	1.37:g.111215712C>T	ENSP00000358784:p.Asp574Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D574N	ENST00000369769.2	37	c.1720	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603208	0.66445	.	.	ENSG00000177272	ENST00000369769	D	0.97906	-4.6	5.38	5.38	0.77491	.	0.000000	0.35677	U	0.003060	D	0.95825	0.8641	M	0.73962	2.25	0.80722	D	1	P	0.50943	0.94	B	0.35813	0.211	D	0.96640	0.9473	10	0.87932	D	0	.	19.3244	0.94256	0.0:1.0:0.0:0.0	.	574	P22001	KCNA3_HUMAN	N	574	ENSP00000358784:D574N	ENSP00000358784:D574N	D	-	1	0	KCNA3	111017235	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.647000	0.83462	2.794000	0.96219	0.655000	0.94253	GAT	KCNA3	-	NULL	ENSG00000177272		0.458	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	236	0.42	1	C	NM_002232		111215712	111215712	-1	no_errors	ENST00000369769	ensembl	human	known	69_37n	missense	96	18.49	22	SNP	1.000	T
KCNH2	3757	genome.wustl.edu	37	7	150654493	150654493	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:150654493G>A	ENST00000262186.5	-	5	1415	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	KCNH2_ENST00000430723.3_Silent_p.L338L|KCNH2_ENST00000330883.4_5'Flank|KCNH2_ENST00000392968.2_Silent_p.L242L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	338					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCACAAAGTTGAGGGTGATTT	0.572																																					GBM(137;110 1844 13671 20123 45161)	dbGAP											0													146.0	118.0	127.0					7																	150654493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1014C>T	7.37:g.150654493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L338	ENST00000262186.5	37	c.1014	CCDS5910.1	7																																																																																			KCNH2	-	NULL	ENSG00000055118		0.572	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	238	0.00	0	G	NM_000238		150654493	150654493	-1	no_errors	ENST00000262186	ensembl	human	known	69_37n	silent	216	13.60	34	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73751697	73751697	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:73751697C>T	ENST00000370398.1	+	3	637	c.528C>T	c.(526-528)atC>atT	p.I176I	KCNQ5_ENST00000414165.2_Silent_p.I176I|KCNQ5_ENST00000403813.2_Silent_p.I176I|KCNQ5_ENST00000370392.1_Silent_p.I176I|KCNQ5_ENST00000342056.2_Silent_p.I176I|KCNQ5_ENST00000355194.4_Silent_p.I176I|KCNQ5_ENST00000402622.2_Silent_p.I176I|KCNQ5_ENST00000355635.3_Silent_p.I176I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	176					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGAGTTCATCATTCGAATCT	0.423																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													401.0	365.0	377.0					6																	73751697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.528C>T	6.37:g.73751697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I176	ENST00000370398.1	37	c.528	CCDS4976.1	6																																																																																			KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	ENSG00000185760		0.423	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	651	0.15	1	C	NM_019842		73751697	73751697	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	silent	365	10.10	41	SNP	1.000	T
KCNQ5	56479	genome.wustl.edu	37	6	73751706	73751706	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:73751706C>T	ENST00000370398.1	+	3	646	c.537C>T	c.(535-537)atC>atT	p.I179I	KCNQ5_ENST00000414165.2_Silent_p.I179I|KCNQ5_ENST00000403813.2_Silent_p.I179I|KCNQ5_ENST00000370392.1_Silent_p.I179I|KCNQ5_ENST00000342056.2_Silent_p.I179I|KCNQ5_ENST00000355194.4_Silent_p.I179I|KCNQ5_ENST00000402622.2_Silent_p.I179I|KCNQ5_ENST00000355635.3_Silent_p.I179I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	179					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TCATTCGAATCTGGTCTGCGG	0.428																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													391.0	357.0	368.0					6																	73751706		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.537C>T	6.37:g.73751706C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I179	ENST00000370398.1	37	c.537	CCDS4976.1	6																																																																																			KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	ENSG00000185760		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	652	0.00	0	C	NM_019842		73751706	73751706	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	silent	355	11.00	44	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44137198	44137198	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:44137198C>G	ENST00000372396.3	+	11	1520	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	462					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CCACTGAAGTCAAATTTGAAG	0.443																																						dbGAP											0													78.0	78.0	78.0					1																	44137198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1386C>G	1.37:g.44137198C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVB1	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V462	ENST00000372396.3	37	c.1386	CCDS491.1	1																																																																																			KDM4A	-	NULL	ENSG00000066135		0.443	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	163	0.00	0	C	NM_014663		44137198	44137198	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	0.989	G
KHDRBS3	10656	genome.wustl.edu	37	8	136470169	136470169	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:136470169C>T	ENST00000355849.5	+	1	470	c.60C>T	c.(58-60)ttC>ttT	p.F20F	RP11-343P9.1_ENST00000518674.1_RNA|KHDRBS3_ENST00000520981.1_5'Flank	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	20					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACCCCTCCTTCACGCACGCCC	0.731																																						dbGAP											0													21.0	19.0	20.0					8																	136470169		2187	4290	6477	-	-	-	SO:0001819	synonymous_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.60C>T	8.37:g.136470169C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUL8|Q9UPA8	Silent	SNP	smart_KH_dom	p.F20	ENST00000355849.5	37	c.60	CCDS6374.1	8																																																																																			KHDRBS3	-	NULL	ENSG00000131773		0.731	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	13	0.00	0	C			136470169	136470169	+1	no_errors	ENST00000355849	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	1.000	T
KIAA1107	23285	genome.wustl.edu	37	1	92648114	92648114	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:92648114C>G	ENST00000370378.4	+	8	3658	c.3560C>G	c.(3559-3561)tCt>tGt	p.S1187C	KIAA1107_ENST00000409154.4_Missense_Mutation_p.S1242C	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	1242										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						GAGAGCCATTCTACAACTACT	0.348																																						dbGAP											0													22.0	20.0	20.0					1																	92648114		692	1591	2283	-	-	-	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.3560C>G	1.37:g.92648114C>G	ENSP00000359404:p.Ser1187Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.S1242C	ENST00000370378.4	37	c.3725	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198088	0.38806	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.05649	3.41;3.41	5.96	4.97	0.65823	.	0.776619	0.12068	N	0.502558	T	0.10852	0.0265	L	0.56769	1.78	0.18873	N	0.999989	D	0.67145	0.996	P	0.59288	0.855	T	0.04115	-1.0976	10	0.46703	T	0.11	.	15.9686	0.79995	0.221:0.7789:0.0:0.0	.	1187	E9PEZ5	.	C	1242;1187	ENSP00000386957:S1242C;ENSP00000359404:S1187C	ENSP00000359404:S1187C	S	+	2	0	KIAA1107	92420702	0.952000	0.32445	0.987000	0.45799	0.992000	0.81027	1.828000	0.39111	2.826000	0.97356	0.655000	0.94253	TCT	KIAA1107	-	NULL	ENSG00000069712		0.348	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	33	0.00	0	C	XM_034086		92648114	92648114	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.705	G
KIAA1429	25962	genome.wustl.edu	37	8	95518781	95518781	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:95518781G>A	ENST00000297591.5	-	16	4119	c.4044C>T	c.(4042-4044)gtC>gtT	p.V1348V	KIAA1429_ENST00000437199.1_Silent_p.V1348V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1348					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCATTGTTCTGACACATGTCA	0.323																																						dbGAP											0													104.0	107.0	106.0					8																	95518781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4044C>T	8.37:g.95518781G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	superfamily_ARM-type_fold	p.V1348	ENST00000297591.5	37	c.4044	CCDS34923.1	8																																																																																			KIAA1429	-	superfamily_ARM-type_fold	ENSG00000164944		0.323	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	103	0.00	0	G	NM_015496		95518781	95518781	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	silent	77	11.49	10	SNP	0.996	A
KIAA1549L	25758	genome.wustl.edu	37	11	33680366	33680366	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:33680366G>A	ENST00000321505.4	+	18	5218	c.5038G>A	c.(5038-5040)Gac>Aac	p.D1680N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1686N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1680						integral component of membrane (GO:0016021)											CCAGCTGCACGACAGCGCCTC	0.597																																						dbGAP											0													19.0	26.0	24.0					11																	33680366		2007	4140	6147	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5038G>A	11.37:g.33680366G>A	ENSP00000315295:p.Asp1680Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.D1686N	ENST00000321505.4	37	c.5056	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782901	0.90282	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.02	5.02	0.67125	.	0.072983	0.49305	D	0.000155	T	0.37210	0.0995	N	0.17082	0.46	0.37704	D	0.924323	D	0.65815	0.995	P	0.50860	0.652	T	0.16364	-1.0405	9	0.12103	T	0.63	-16.4481	12.1205	0.53889	0.0791:0.0:0.9209:0.0	.	1686	E9PAT2	.	N	1680;1686;1519	.	ENSP00000315295:D1680N	D	+	1	0	C11orf41	33636942	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.190000	0.65104	2.486000	0.83907	0.561000	0.74099	GAC	KIAA1549L	-	NULL	ENSG00000110427		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	44	0.00	0	G	NM_012194		33680366	33680366	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	A
KIF13B	23303	genome.wustl.edu	37	8	28991565	28991565	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:28991565G>C	ENST00000524189.1	-	22	2814	c.2776C>G	c.(2776-2778)Cat>Gat	p.H926D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	926					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACATTGCAATGATCAAAGACA	0.458																																						dbGAP											0													58.0	56.0	57.0					8																	28991565		2006	4159	6165	-	-	-	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2776C>G	8.37:g.28991565G>C	ENSP00000427900:p.His926Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H926D	ENST00000524189.1	37	c.2776	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232328	0.58777	.	.	ENSG00000197892	ENST00000524189	T	0.80480	-1.38	5.25	5.25	0.73442	.	0.092088	0.85682	D	0.000000	T	0.81317	0.4797	M	0.68317	2.08	0.80722	D	1	P	0.35307	0.494	B	0.36289	0.221	T	0.82277	-0.0537	10	0.56958	D	0.05	.	19.0392	0.92991	0.0:0.0:1.0:0.0	.	926	F8VPJ2	.	D	926	ENSP00000427900:H926D	ENSP00000427900:H926D	H	-	1	0	KIF13B	29047484	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	4.582000	0.60957	2.714000	0.92807	0.650000	0.86243	CAT	KIF13B	-	NULL	ENSG00000197892		0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	94	0.00	0	G			28991565	28991565	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	0.998	C
KIF1A	547	genome.wustl.edu	37	2	241676565	241676565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:241676565C>A	ENST00000320389.7	-	36	3777	c.3619G>T	c.(3619-3621)Gag>Tag	p.E1207*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.E1308*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1207					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCGTCGGTCTCTGGAGTGTTT	0.617																																						dbGAP											0													173.0	180.0	178.0					2																	241676565		1998	4166	6164	-	-	-	SO:0001587	stop_gained	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3619G>T	2.37:g.241676565C>A	ENSP00000322791:p.Glu1207*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.E1308*	ENST00000320389.7	37	c.3922	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.187188|13.187188	0.99726|0.99726	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	.|T	.|0.73489	.|0.3593	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75121	.|-0.3429	.|3	0.66056|.	D|.	0.02|.	.|.	17.6315|17.6315	0.88109|0.88109	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	1207;1308;1308;1308|130	.|.	ENSP00000322791:E1207X|.	E|Q	-|-	1|3	0|2	KIF1A|KIF1A	241325238|241325238	1.000000|1.000000	0.71417|0.71417	0.676000|0.676000	0.29932|0.29932	0.912000|0.912000	0.54170|0.54170	5.839000|5.839000	0.69395|0.69395	2.146000|2.146000	0.66826|0.66826	0.563000|0.563000	0.77884|0.77884	GAG|CAG	KIF1A	-	pfam_Kinesin-like	ENSG00000130294		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	232	0.00	0	C	NM_138483		241676565	241676565	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	nonsense	129	11.64	17	SNP	1.000	A
KIF4B	285643	genome.wustl.edu	37	5	154396044	154396044	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:154396044C>G	ENST00000435029.4	+	1	2785	c.2625C>G	c.(2623-2625)gtC>gtG	p.V875V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	875	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAGCTGGTCTCCTCCAAAA	0.443																																						dbGAP											0													75.0	76.0	76.0					5																	154396044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2625C>G	5.37:g.154396044C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V875	ENST00000435029.4	37	c.2625	CCDS47324.1	5																																																																																			KIF4B	-	NULL	ENSG00000226650		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	163	0.00	0	C			154396044	154396044	+1	no_errors	ENST00000435029	ensembl	human	known	69_37n	silent	87	12.12	12	SNP	0.998	G
KIF5B	3799	genome.wustl.edu	37	10	32326280	32326280	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:32326280G>T	ENST00000302418.4	-	8	1070	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	205	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATATACTGTGACTCCTAGAG	0.333			T	"""RET, ALK"""	NSCLC																																	dbGAP		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													114.0	101.0	106.0					10																	32326280		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.613C>A	10.37:g.32326280G>T	ENSP00000307078:p.His205Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H205N	ENST00000302418.4	37	c.613	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763809	0.89932	.	.	ENSG00000170759	ENST00000302418	D	0.93712	-3.27	5.0	5.0	0.66597	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99813	1.1042	10	0.87932	D	0	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	205	P33176	KINH_HUMAN	N	205	ENSP00000307078:H205N	ENSP00000307078:H205N	H	-	1	0	KIF5B	32366286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.449000	0.82847	0.557000	0.71058	CAC	KIF5B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000170759		0.333	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	393	0.00	0	G	NM_004521		32326280	32326280	-1	no_errors	ENST00000302418	ensembl	human	known	69_37n	missense	137	25.27	47	SNP	1.000	T
KLHDC2	23588	genome.wustl.edu	37	14	50249116	50249116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:50249116G>T	ENST00000298307.5	+	11	1846	c.985G>T	c.(985-987)Gaa>Taa	p.E329*	KLHDC2_ENST00000554589.1_Nonsense_Mutation_p.E329*|KLHDC2_ENST00000557247.1_Missense_Mutation_p.M304I|NEMF_ENST00000556925.1_5'Flank	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	329						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGCCAGCGATGAAGGAGAAGT	0.408																																						dbGAP											0													173.0	172.0	173.0					14																	50249116		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.985G>T	14.37:g.50249116G>T	ENSP00000298307:p.Glu329*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPF9|Q6IAF0|Q86TY9	Nonsense_Mutation	SNP	pfam_Kelch_2	p.E329*	ENST00000298307.5	37	c.985	CCDS9693.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.704137|11.704137	0.99593|0.99593	.|.	.|.	ENSG00000165516|ENSG00000165516	ENST00000298307;ENST00000554589|ENST00000557247	.|T	.|0.05025	.|3.51	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.047786|.	0.85682|.	D|.	0.000000|.	.|T	.|0.06645	.|0.0170	.|.	.|.	.|.	0.40485|0.40485	D|D	0.980488|0.980488	.|B	.|0.17038	.|0.02	.|B	.|0.16289	.|0.015	.|T	.|0.43925	.|-0.9361	.|7	0.10902|.	T|.	0.67|.	-25.7249|-25.7249	19.0621|19.0621	0.93097|0.93097	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304	.|G3V2H2	.|.	X|I	329|304	.|ENSP00000450658:M304I	ENSP00000298307:E329X|.	E|M	+|+	1|3	0|0	KLHDC2|KLHDC2	49318866|49318866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.038000|9.038000	0.93771|0.93771	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GAA|ATG	KLHDC2	-	NULL	ENSG00000165516		0.408	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC2	HGNC	protein_coding	OTTHUMT00000276869.1	400	0.00	0	G			50249116	50249116	+1	no_errors	ENST00000298307	ensembl	human	known	69_37n	nonsense	221	10.89	27	SNP	1.000	T
KLHL15	80311	genome.wustl.edu	37	X	24024795	24024795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:24024795C>A	ENST00000328046.8	-	3	271	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	6					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CAGAATCCTTCCACGTCCCCT	0.413																																						dbGAP											0													33.0	26.0	28.0					X																	24024795		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.16G>T	X.37:g.24024795C>A	ENSP00000332791:p.Glu6*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E6*	ENST00000328046.8	37	c.16	CCDS35217.1	X	.	.	.	.	.	.	.	.	.	.	c	38	6.670359	0.97751	.	.	ENSG00000174010	ENST00000328046	.	.	.	5.74	4.88	0.63580	.	0.045327	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.9376	0.64034	0.0:0.9254:0.0:0.0746	.	.	.	.	X	6	.	ENSP00000332791:E6X	E	-	1	0	KLHL15	23934716	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.372000	0.66156	1.184000	0.42957	-0.196000	0.12772	GAA	KLHL15	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000174010		0.413	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	58	0.00	0	C	XM_040383		24024795	24024795	-1	no_errors	ENST00000328046	ensembl	human	known	69_37n	nonsense	37	15.91	7	SNP	1.000	A
KLHL32	114792	genome.wustl.edu	37	6	97512544	97512544	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:97512544C>T	ENST00000369261.4	+	5	716	c.353C>T	c.(352-354)gCg>gTg	p.A118V	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.A82V|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	118										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTGCTAGCAGCGGGCAGTCAC	0.423																																						dbGAP											0													133.0	103.0	113.0					6																	97512544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.353C>T	6.37:g.97512544C>T	ENSP00000358265:p.Ala118Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A118V	ENST00000369261.4	37	c.353	CCDS5038.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.234122	0.95207	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000369254;ENST00000447886	T;T;T;T	0.73681	-0.77;1.96;-0.77;1.3	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	L	0.38649	1.16	0.80722	D	1	D;D;P	0.76494	0.999;0.995;0.954	D;D;P	0.68621	0.959;0.912;0.628	T	0.79057	-0.1959	10	0.66056	D	0.02	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	82;118;118	B7Z346;Q96NJ5;Q6IQ08	.;KLH32_HUMAN;.	V	44;118;82;118;14	ENSP00000358265:A118V;ENSP00000440382:A82V;ENSP00000358258:A118V;ENSP00000389310:A14V	ENSP00000358258:A118V	A	+	2	0	KLHL32	97619265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.902000	0.75699	2.890000	0.99128	0.650000	0.86243	GCG	KLHL32	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.423	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1	213	0.00	0	C	NM_052904		97512544	97512544	+1	no_errors	ENST00000369261	ensembl	human	known	69_37n	missense	104	20.61	27	SNP	1.000	T
KLK11	11012	genome.wustl.edu	37	19	51527553	51527553	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:51527553G>A	ENST00000594768.1	-	4	492	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000391804.3_Missense_Mutation_p.H96Y|KLK11_ENST00000319720.7_Missense_Mutation_p.H71Y|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000453757.3_Missense_Mutation_p.H71Y	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGCCCCAGGTGAACTATGTAG	0.592																																						dbGAP											0													89.0	97.0	94.0					19																	51527553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.307C>T	19.37:g.51527553G>A	ENSP00000473047:p.His103Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H103Y	ENST00000594768.1	37	c.307	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	g	9.783	1.175779	0.21704	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.87966	-2.32;-2.32;-2.32	4.42	2.19	0.27852	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.625964	0.13175	N	0.407996	T	0.68293	0.2985	N	0.03903	-0.33	0.24798	N	0.992717	B;B	0.12013	0.005;0.005	B;B	0.15052	0.012;0.012	T	0.57745	-0.7758	10	0.33940	T	0.23	.	5.3073	0.15811	0.0983:0.0:0.5448:0.3569	.	103;96	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	Y	96;71;71;103	ENSP00000375680:H96Y;ENSP00000324269:H71Y;ENSP00000413958:H71Y	ENSP00000324269:H71Y	H	-	1	0	KLK11	56219365	0.435000	0.25577	0.343000	0.25615	0.908000	0.53690	3.293000	0.51779	1.040000	0.40099	0.462000	0.41574	CAC	KLK11	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167757		0.592	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	205	0.00	0	G	NM_006853		51527553	51527553	-1	no_errors	ENST00000319756	ensembl	human	known	69_37n	missense	118	13.87	19	SNP	0.932	A
KNDC1	85442	genome.wustl.edu	37	10	135025317	135025317	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:135025317C>T	ENST00000304613.3	+	23	4212	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	KNDC1_ENST00000368572.2_Silent_p.F1399F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1397					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGACCCTTCAACGCCCTCT	0.667																																						dbGAP											0													48.0	46.0	47.0					10																	135025317		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4191C>T	10.37:g.135025317C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F1399	ENST00000304613.3	37	c.4197	CCDS7674.1	10																																																																																			KNDC1	-	superfamily_Ras_GEF_dom	ENSG00000171798		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	49	0.00	0	C	NM_152643		135025317	135025317	+1	no_errors	ENST00000368572	ensembl	human	known	69_37n	silent	33	13.16	5	SNP	0.813	T
KRT25	147183	genome.wustl.edu	37	17	38907262	38907262	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:38907262C>T	ENST00000312150.4	-	5	961	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGCTTCATTTCAGTCAGCTCA	0.473																																						dbGAP											0													116.0	114.0	115.0					17																	38907262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.901G>A	17.37:g.38907262C>T	ENSP00000310573:p.Glu301Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E301K	ENST00000312150.4	37	c.901	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.597776	0.96602	.	.	ENSG00000204897	ENST00000312150	D	0.90620	-2.7	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.97062	0.9040	H	0.96208	3.785	0.50467	D	0.99987	D	0.60575	0.988	D	0.66979	0.948	D	0.97659	1.0159	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	301	Q7Z3Z0	K1C25_HUMAN	K	301	ENSP00000310573:E301K	.	E	-	1	0	KRT25	36160788	0.996000	0.38824	0.865000	0.33974	0.887000	0.51463	3.707000	0.54838	2.758000	0.94735	0.655000	0.94253	GAA	KRT25	-	pfam_F	ENSG00000204897		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	326	0.00	0	C	NM_181534		38907262	38907262	-1	no_errors	ENST00000312150	ensembl	human	known	69_37n	missense	94	30.88	42	SNP	0.994	T
KRT19	3880	genome.wustl.edu	37	17	39681449	39681449	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:39681449C>T	ENST00000361566.3	-	2	557	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	166	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCACTTGGTTCGGAAGTCATC	0.567																																						dbGAP											0													123.0	120.0	121.0					17																	39681449		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.497G>A	17.37:g.39681449C>T	ENSP00000355124:p.Arg166Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R166Q	ENST00000361566.3	37	c.497	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706105	0.89018	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.90732	-2.72;-1.61	4.87	4.87	0.63330	Filament (1);	0.000000	0.39615	N	0.001302	D	0.94046	0.8092	M	0.76574	2.34	0.38893	D	0.957162	D;P	0.71674	0.998;0.952	P;P	0.57548	0.823;0.546	D	0.95349	0.8445	10	0.87932	D	0	.	18.1981	0.89829	0.0:1.0:0.0:0.0	.	329;166	B4DE59;P08727	.;K1C19_HUMAN	Q	166;135	ENSP00000355124:R166Q;ENSP00000408759:R135Q	ENSP00000355124:R166Q	R	-	2	0	KRT19	36934975	0.070000	0.21116	0.965000	0.40720	0.990000	0.78478	0.591000	0.23969	2.530000	0.85305	0.462000	0.41574	CGA	KRT19	-	pfam_F,prints_Keratin_I	ENSG00000171345		0.567	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	121	0.00	0	C	NM_002276		39681449	39681449	-1	no_errors	ENST00000361566	ensembl	human	known	69_37n	missense	76	11.49	10	SNP	0.988	T
KRT9	3857	genome.wustl.edu	37	17	39724859	39724859	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:39724859G>A	ENST00000246662.4	-	5	1136	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	KRT9_ENST00000588431.1_Silent_p.S124S	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	357	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GACCACTACTGGATACCTCAT	0.557																																						dbGAP											0													309.0	289.0	296.0					17																	39724859		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1071C>T	17.37:g.39724859G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Silent	SNP	pfam_F,prints_Keratin_I	p.S357	ENST00000246662.4	37	c.1071	CCDS32654.1	17																																																																																			KRT9	-	pfam_F	ENSG00000171403		0.557	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	181	0.00	0	G	NM_000226		39724859	39724859	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	silent	81	21.36	22	SNP	0.000	A
LAMA3	3909	genome.wustl.edu	37	18	21494748	21494748	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:21494748G>C	ENST00000313654.9	+	58	7809	c.7568G>C	c.(7567-7569)aGa>aCa	p.R2523T	LAMA3_ENST00000399516.3_Missense_Mutation_p.R2467T|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R858T|LAMA3_ENST00000269217.6_Missense_Mutation_p.R914T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2523	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATGGATGGTAGAAATAGCAAT	0.353																																						dbGAP											0													76.0	75.0	75.0					18																	21494748		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7568G>C	18.37:g.21494748G>C	ENSP00000324532:p.Arg2523Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2523T	ENST00000313654.9	37	c.7568	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783142	0.02907	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.75154	-0.91;-0.91;-0.91	4.87	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.46870	0.1415	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.28713	0.092;0.115;0.117;0.22	B;B;B;B	0.27500	0.039;0.053;0.055;0.08	T	0.33189	-0.9878	9	0.21540	T	0.41	.	5.5167	0.16910	0.0758:0.1404:0.6385:0.1453	.	858;914;2467;2523	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	T	2523;2467;914	ENSP00000324532:R2523T;ENSP00000382432:R2467T;ENSP00000269217:R914T	ENSP00000269217:R914T	R	+	2	0	LAMA3	19748746	0.143000	0.22626	0.054000	0.19295	0.002000	0.02628	0.414000	0.21164	0.625000	0.30304	0.561000	0.74099	AGA	LAMA3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000053747		0.353	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	180	0.00	0	G	NM_000227, NM_198129		21494748	21494748	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	98	11.71	13	SNP	0.156	C
LAMA5	3911	genome.wustl.edu	37	20	60911821	60911821	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:60911821C>A	ENST00000252999.3	-	17	2252	c.2186G>T	c.(2185-2187)gGt>gTt	p.G729V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	729	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGGGCCAGACCGGCAGGGTG	0.627																																						dbGAP											0													78.0	66.0	70.0					20																	60911821		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2186G>T	20.37:g.60911821C>A	ENSP00000252999:p.Gly729Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.G729V	ENST00000252999.3	37	c.2186	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611239	0.46631	.	.	ENSG00000130702	ENST00000252999	T	0.23552	1.9	4.92	4.92	0.64577	EGF-like, laminin (1);	0.052192	0.85682	D	0.000000	T	0.63522	0.2518	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75698	-0.3227	10	0.87932	D	0	.	15.3986	0.74818	0.0:1.0:0.0:0.0	.	729	O15230	LAMA5_HUMAN	V	729	ENSP00000252999:G729V	ENSP00000252999:G729V	G	-	2	0	LAMA5	60345216	0.738000	0.28186	0.999000	0.59377	0.018000	0.09664	1.452000	0.35156	2.434000	0.82447	0.555000	0.69702	GGT	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like	ENSG00000130702		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	91	0.00	0	C	NM_005560		60911821	60911821	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	A
LAMB1	3912	genome.wustl.edu	37	7	107576031	107576031	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:107576031G>A	ENST00000222399.6	-	27	4247	c.4017C>T	c.(4015-4017)acC>acT	p.T1339T	LAMB1_ENST00000393561.1_Silent_p.T1363T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1339	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGGGTTCTGTGGTGGAGGCAT	0.493																																						dbGAP											0													252.0	217.0	229.0					7																	107576031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4017C>T	7.37:g.107576031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.T1339	ENST00000222399.6	37	c.4017	CCDS5750.1	7																																																																																			LAMB1	-	NULL	ENSG00000091136		0.493	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	310	0.00	0	G	NM_002291		107576031	107576031	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	silent	276	10.39	32	SNP	0.682	A
LCMT1	51451	genome.wustl.edu	37	16	25176024	25176024	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:25176024C>G	ENST00000399069.3	+	7	830	c.675C>G	c.(673-675)ttC>ttG	p.F225L	LCMT1_ENST00000380966.4_Missense_Mutation_p.F170L|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	225					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGCCATGTTCATAAACTACG	0.502																																					Colon(200;565 2072 24396 47922 50898)	dbGAP											0													109.0	101.0	104.0					16																	25176024		1929	4153	6082	-	-	-	SO:0001583	missense	0			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.675C>G	16.37:g.25176024C>G	ENSP00000382021:p.Phe225Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Nonsense_Mutation	SNP	NULL	p.S5*	ENST00000399069.3	37	c.14	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799774	0.50208	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.21734	1.99;1.99	5.83	4.87	0.63330	.	0.098573	0.64402	N	0.000001	T	0.20780	0.0500	L	0.52759	1.655	0.80722	D	1	B;B	0.33549	0.245;0.417	B;B	0.36808	0.233;0.123	T	0.03555	-1.1025	10	0.44086	T	0.13	-17.9879	8.2726	0.31853	0.0:0.7593:0.159:0.0817	.	170;225	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	L	225;170;242	ENSP00000382021:F225L;ENSP00000370353:F170L	ENSP00000370349:F242L	F	+	3	2	LCMT1	25083525	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	1.283000	0.33237	1.443000	0.47586	-0.300000	0.09419	TTC	LCMT1	-	NULL	ENSG00000205629		0.502	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	124	0.00	0	C	NM_016309		25176024	25176024	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000575396	ensembl	human	putative	69_37n	nonsense	74	10.84	9	SNP	1.000	G
LCP2	3937	genome.wustl.edu	37	5	169677830	169677830	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:169677830G>C	ENST00000046794.5	-	20	1998	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Silent_p.L256L	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	461	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACAACACCATGAGGACATATG	0.388																																						dbGAP											0													172.0	155.0	161.0					5																	169677830		1874	4100	5974	-	-	-	SO:0001819	synonymous_variant	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1383C>G	5.37:g.169677830G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.L461	ENST00000046794.5	37	c.1383	CCDS47339.1	5																																																																																			LCP2	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000043462		0.388	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	483	0.00	0	G	NM_005565		169677830	169677830	-1	no_errors	ENST00000046794	ensembl	human	known	69_37n	silent	251	13.40	39	SNP	1.000	C
LDHC	3948	genome.wustl.edu	37	11	18467850	18467850	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:18467850G>C	ENST00000541669.1	+	7	915	c.804G>C	c.(802-804)agG>agC	p.R268S	LDHC_ENST00000535809.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R254S|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.R268S			P07864	LDHC_HUMAN	lactate dehydrogenase C	268					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAATCTTAGGAGAGTGCACC	0.378																																						dbGAP											0													156.0	153.0	154.0					11																	18467850		2199	4293	6492	-	-	-	SO:0001583	missense	0			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.804G>C	11.37:g.18467850G>C	ENSP00000437783:p.Arg268Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.R268S	ENST00000541669.1	37	c.804	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234558	0.22626	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880	T;T;T	0.63255	-0.03;-0.03;-0.03	4.88	2.98	0.34508	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.124501	0.53938	D	0.000049	T	0.53610	0.1807	M	0.74389	2.26	0.80722	D	1	B	0.34161	0.439	B	0.29353	0.101	T	0.49854	-0.8895	10	0.24483	T	0.36	-13.247	7.0314	0.24969	0.2714:0.0:0.7286:0.0	.	268	P07864	LDHC_HUMAN	S	268;268;254	ENSP00000437783:R268S;ENSP00000280704:R268S;ENSP00000439555:R254S	ENSP00000280704:R268S	R	+	3	2	LDHC	18424426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.815000	0.27253	1.285000	0.44548	0.561000	0.74099	AGG	LDHC	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166796		0.378	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	327	0.00	0	G	NM_017448		18467850	18467850	+1	no_errors	ENST00000280704	ensembl	human	known	69_37n	missense	156	14.29	26	SNP	0.997	C
LINGO2	158038	genome.wustl.edu	37	9	27948932	27948932	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:27948932C>G	ENST00000379992.2	-	6	2187	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.E580Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	580						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGCACATACTCAAGGTCAATG	0.468																																						dbGAP											0													118.0	104.0	109.0					9																	27948932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1738G>C	9.37:g.27948932C>G	ENSP00000369328:p.Glu580Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E580Q	ENST00000379992.2	37	c.1738	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060947	0.55432	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.34521	1.04	0.80722	D	1	P	0.50066	0.931	P	0.48089	0.566	T	0.42632	-0.9440	9	.	.	.	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	580	Q7L985	LIGO2_HUMAN	Q	580	ENSP00000369328:E580Q;ENSP00000310126:E580Q	.	E	-	1	0	LINGO2	27938932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	GAG	LINGO2	-	NULL	ENSG00000174482		0.468	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	249	0.00	0	C	NM_152570		27948932	27948932	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	104	22.39	30	SNP	1.000	G
LRBA	987	genome.wustl.edu	37	4	151850194	151850194	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:151850194C>T	ENST00000357115.3	-	3	483	c.240G>A	c.(238-240)ctG>ctA	p.L80L	LRBA_ENST00000535741.1_Silent_p.L80L|LRBA_ENST00000507224.1_Silent_p.L80L|LRBA_ENST00000510413.1_Silent_p.L80L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	80						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATTCATTTCCAGATCAAACT	0.363																																						dbGAP											0													84.0	81.0	82.0					4																	151850194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.240G>A	4.37:g.151850194C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.L80	ENST00000357115.3	37	c.240	CCDS3773.1	4																																																																																			LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	131	0.00	0	C			151850194	151850194	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	silent	63	22.89	19	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44123829	44123829	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:44123829C>T	ENST00000260665.7	-	35	3901	c.3844G>A	c.(3844-3846)Gaa>Aaa	p.E1282K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1282	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGGTTTGTTCAGCAATTGCA	0.348																																						dbGAP											0													110.0	107.0	108.0					2																	44123829		2203	4300	6503	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3844G>A	2.37:g.44123829C>T	ENSP00000260665:p.Glu1282Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E1282K	ENST00000260665.7	37	c.3844	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849173	0.71603	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	T	0.12672	2.66	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.65498	2.005	0.80722	D	1	D	0.58620	0.983	P	0.53313	0.723	T	0.00832	-1.1548	10	0.28530	T	0.3	-6.715	16.3812	0.83461	0.0:0.8685:0.1315:0.0	.	1282	P42704	LPPRC_HUMAN	K	1282;29	ENSP00000260665:E1282K	ENSP00000260665:E1282K	E	-	1	0	LRPPRC	43977333	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.704000	0.54815	2.561000	0.86390	0.557000	0.71058	GAA	LRPPRC	-	NULL	ENSG00000138095		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	209	0.00	0	C	NM_133259		44123829	44123829	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44126455	44126455	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:44126455C>G	ENST00000260665.7	-	34	3785	c.3728G>C	c.(3727-3729)aGa>aCa	p.R1243T		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1243	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTGGCCAATCTCTCCGCCAT	0.408																																						dbGAP											0													68.0	65.0	66.0					2																	44126455		2203	4300	6503	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3728G>C	2.37:g.44126455C>G	ENSP00000260665:p.Arg1243Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.R1243T	ENST00000260665.7	37	c.3728	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539256	0.85917	.	.	ENSG00000138095	ENST00000260665	T	0.12774	2.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02352	-1.1172	10	0.14656	T	0.56	-13.9619	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1243	P42704	LPPRC_HUMAN	T	1243	ENSP00000260665:R1243T	ENSP00000260665:R1243T	R	-	2	0	LRPPRC	43979959	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.892000	0.63193	2.786000	0.95864	0.563000	0.77884	AGA	LRPPRC	-	NULL	ENSG00000138095		0.408	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	106	0.00	0	C	NM_133259		44126455	44126455	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170029697	170029697	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:170029697G>C	ENST00000263816.3	-	57	11337	c.11052C>G	c.(11050-11052)ttC>ttG	p.F3684L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3684	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	TTTTGCAGCTGAATTCTGTGA	0.493																																						dbGAP											0													105.0	100.0	102.0					2																	170029697		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.11052C>G	2.37:g.170029697G>C	ENSP00000263816:p.Phe3684Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F3684L	ENST00000263816.3	37	c.11052	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117500	0.77323	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.98889	-5.21	5.86	5.86	0.93980	.	0.047229	0.85682	D	0.000000	D	0.99083	0.9685	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99023	1.0818	10	0.56958	D	0.05	.	13.3873	0.60803	0.0716:0.0:0.9284:0.0	.	3684	P98164	LRP2_HUMAN	L	3684;379	ENSP00000263816:F3684L	ENSP00000263816:F3684L	F	-	3	2	LRP2	169737943	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.242000	0.58714	2.777000	0.95525	0.655000	0.94253	TTC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	328	0.00	0	G	NM_004525		170029697	170029697	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	190	13.51	30	SNP	1.000	C
LRRC2	79442	genome.wustl.edu	37	3	46592974	46592974	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:46592974C>T	ENST00000395905.3	-	2	500	c.108G>A	c.(106-108)gaG>gaA	p.E36E	LRRC2_ENST00000296144.3_Silent_p.E36E|AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000496388.1_Intron	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	36										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AGGCGCTCTTCTCAAGCCTTT	0.463																																						dbGAP											0													140.0	139.0	140.0					3																	46592974		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.108G>A	3.37:g.46592974C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDQ7|Q96LT5	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E36	ENST00000395905.3	37	c.108	CCDS2741.1	3																																																																																			LRRC2	-	NULL	ENSG00000163827		0.463	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC2	HGNC	protein_coding	OTTHUMT00000257375.2	262	0.00	0	C			46592974	46592974	-1	no_errors	ENST00000296144	ensembl	human	known	69_37n	silent	84	20.00	21	SNP	0.850	T
LRRC32	2615	genome.wustl.edu	37	11	76371263	76371263	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:76371263G>C	ENST00000407242.2	-	3	1616	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	LRRC32_ENST00000260061.5_Silent_p.L458L|LRRC32_ENST00000404995.1_Silent_p.L458L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	458					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCCCTGCCCTGAGCAGCTCTA	0.662																																						dbGAP											0													42.0	32.0	35.0					11																	76371263		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1374C>G	11.37:g.76371263G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V06	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L458	ENST00000407242.2	37	c.1374	CCDS8245.1	11																																																																																			LRRC32	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.662	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	44	0.00	0	G	NM_005512		76371263	76371263	-1	no_errors	ENST00000260061	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	0.439	C
LRRC37BP1	147172	genome.wustl.edu	37	17	28961240	28961240	+	RNA	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:28961240G>C	ENST00000417404.1	+	0	1498									leucine rich repeat containing 37B pseudogene 1																		ATTTAAGGCTGAGGTGTGCTT	0.388																																						dbGAP											0																																										-	-	-			0			BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961240G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000417404.1	37	NULL		17																																																																																			LRRC37BP1	-	-	ENSG00000214719		0.388	LRRC37BP1-003	KNOWN	basic	processed_transcript	LRRC37BP1	HGNC	pseudogene	OTTHUMT00000256203.1	18	0.00	0	G	NR_015341		28961240	28961240	+1	no_errors	ENST00000398849	ensembl	human	known	69_37n	rna	10	23.08	3	SNP	0.003	C
LRRC66	339977	genome.wustl.edu	37	4	52862139	52862139	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:52862139C>T	ENST00000343457.3	-	4	1055	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	350						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGGCAGCCGTCTCTGCTTCTT	0.602																																						dbGAP											0													30.0	32.0	31.0					4																	52862139		1917	4116	6033	-	-	-	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1049G>A	4.37:g.52862139C>T	ENSP00000341944:p.Arg350Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R350K	ENST00000343457.3	37	c.1049	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	C	4.592	0.109993	0.08780	.	.	ENSG00000188993	ENST00000343457	T	0.42513	0.97	4.53	-5.48	0.02592	.	2.017100	0.02070	N	0.051446	T	0.23649	0.0572	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.06338	-1.0832	10	0.22109	T	0.4	10.1012	2.023	0.03513	0.1181:0.1602:0.3139:0.4079	.	350	Q68CR7	LRC66_HUMAN	K	350	ENSP00000341944:R350K	ENSP00000341944:R350K	R	-	2	0	LRRC66	52556896	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.187000	0.01250	-0.829000	0.04268	0.313000	0.20887	AGA	LRRC66	-	NULL	ENSG00000188993		0.602	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	61	0.00	0	C	NM_001024611		52862139	52862139	-1	no_errors	ENST00000343457	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.000	T
LRRIQ1	84125	genome.wustl.edu	37	12	85439870	85439870	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:85439870G>A	ENST00000393217.2	+	5	470	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	137										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTTGTTCCTGAGCCTAGTCC	0.333																																						dbGAP											0													125.0	115.0	118.0					12																	85439870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.409G>A	12.37:g.85439870G>A	ENSP00000376910:p.Glu137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E137K	ENST00000393217.2	37	c.409	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108111	0.56291	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.54675	1.41;0.56	4.17	4.17	0.49024	.	0.373939	0.20070	N	0.099900	T	0.65616	0.2708	L	0.55481	1.735	0.18873	N	0.999987	P;D;D	0.63880	0.954;0.993;0.958	P;D;P	0.72625	0.527;0.978;0.471	T	0.56450	-0.7977	10	0.66056	D	0.02	.	11.8628	0.52476	0.0:0.0:1.0:0.0	.	137;137;137	Q96JM4-2;Q96JM4;C9JI57	.;LRIQ1_HUMAN;.	K	137	ENSP00000376906:E137K;ENSP00000376910:E137K	ENSP00000256007:E137K	E	+	1	0	LRRIQ1	83964001	0.046000	0.20272	0.131000	0.22000	0.008000	0.06430	1.118000	0.31246	2.138000	0.66242	0.585000	0.79938	GAG	LRRIQ1	-	NULL	ENSG00000133640		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	170	0.00	0	G	NM_032165		85439870	85439870	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	71	11.25	9	SNP	0.234	A
LY9	4063	genome.wustl.edu	37	1	160788033	160788033	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:160788033G>C	ENST00000263285.6	+	6	1398	c.1368G>C	c.(1366-1368)tgG>tgC	p.W456C	LY9_ENST00000341032.4_Missense_Mutation_p.W366C|LY9_ENST00000368037.5_Missense_Mutation_p.W456C|LY9_ENST00000368040.1_Missense_Mutation_p.W108C|LY9_ENST00000368041.2_Missense_Mutation_p.W326C|LY9_ENST00000392203.4_Missense_Mutation_p.W366C			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	456					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAAGCTTTGGATTGGGTTGT	0.438																																						dbGAP											0													276.0	260.0	265.0					1																	160788033		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1368G>C	1.37:g.160788033G>C	ENSP00000263285:p.Trp456Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.W456C	ENST00000263285.6	37	c.1368	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714752	0.30413	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.71222	-0.55;0.24;0.24;0.24	3.25	2.32	0.28847	.	.	.	.	.	T	0.63390	0.2507	L	0.42245	1.32	0.09310	N	0.999992	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.999;0.999	P;P;P;P;D;P	0.63192	0.862;0.808;0.894;0.894;0.912;0.862	T	0.52117	-0.8618	9	0.56958	D	0.05	4.9881	8.5424	0.33402	0.0:0.2628:0.7372:0.0	.	108;416;326;366;456;456	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	C	456;366;108;456;326;416;268;108	ENSP00000342921:W366C;ENSP00000357019:W108C;ENSP00000263285:W456C;ENSP00000357014:W108C	ENSP00000263285:W456C	W	+	3	0	LY9	159054657	0.000000	0.05858	0.020000	0.16555	0.011000	0.07611	0.098000	0.15189	0.942000	0.37525	0.644000	0.83932	TGG	LY9	-	NULL	ENSG00000122224		0.438	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	682	0.00	0	G	NM_002348		160788033	160788033	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	missense	381	10.75	46	SNP	0.024	C
LYPD1	116372	genome.wustl.edu	37	2	133426009	133426009	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:133426009C>T	ENST00000397463.2	-	2	426	c.154G>A	c.(154-156)Gac>Aac	p.D52N	LYPD1_ENST00000345008.6_5'UTR|AC010974.3_ENST00000450509.1_RNA	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	52	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TGACACATGTCTTGAACGTTC	0.557																																						dbGAP											0													84.0	92.0	89.0					2																	133426009		1990	4159	6149	-	-	-	SO:0001583	missense	0			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.154G>A	2.37:g.133426009C>T	ENSP00000380605:p.Asp52Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	NULL	p.D52N	ENST00000397463.2	37	c.154	CCDS42759.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.388666	0.95988	.	.	ENSG00000150551	ENST00000409034;ENST00000397463	D	0.83250	-1.7	5.53	5.53	0.82687	Ly-6 antigen / uPA receptor -like (1);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87339	0.2330	10	0.87932	D	0	-17.7883	17.8246	0.88661	0.0:1.0:0.0:0.0	.	52;68	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	N	75;52	ENSP00000380605:D52N	ENSP00000380605:D52N	D	-	1	0	LYPD1	133142479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.021000	0.76425	2.882000	0.98803	0.655000	0.94253	GAC	LYPD1	-	NULL	ENSG00000150551		0.557	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD1	HGNC	protein_coding	OTTHUMT00000331821.1	118	0.00	0	C	NM_144586		133426009	133426009	-1	no_errors	ENST00000397463	ensembl	human	known	69_37n	missense	69	11.39	9	SNP	1.000	T
LYPD3	27076	genome.wustl.edu	37	19	43965792	43965792	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:43965792G>C	ENST00000244333.3	-	5	840	c.752C>G	c.(751-753)tCa>tGa	p.S251*		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	251					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S251L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				AGATGTGGTTGAGGCCACAGT	0.612																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											119.0	130.0	126.0					19																	43965792		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.752C>G	19.37:g.43965792G>C	ENSP00000244333:p.Ser251*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ74	Nonsense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S251*	ENST00000244333.3	37	c.752	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188463	0.78789	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	.	.	.	4.99	-0.576	0.11731	.	0.521273	0.17790	N	0.161910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.7163	0.23304	0.0882:0.0:0.3669:0.5449	.	.	.	.	X	251;199	.	ENSP00000244333:S251X	S	-	2	0	LYPD3	48657632	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	0.014000	0.13333	-0.163000	0.10946	0.603000	0.83216	TCA	LYPD3	-	NULL	ENSG00000124466		0.612	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	313	0.00	0	G	NM_014400		43965792	43965792	-1	no_errors	ENST00000244333	ensembl	human	known	69_37n	nonsense	195	10.14	22	SNP	0.000	C
LYST	1130	genome.wustl.edu	37	1	235916501	235916501	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:235916501C>G	ENST00000389794.3	-	26	7477	c.7303G>C	c.(7303-7305)Gag>Cag	p.E2435Q	LYST_ENST00000389793.2_Missense_Mutation_p.E2435Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2435					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAGAGGTCTCTATTAGTCCC	0.338																																						dbGAP											0													96.0	102.0	100.0					1																	235916501		2203	4297	6500	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7303G>C	1.37:g.235916501C>G	ENSP00000374444:p.Glu2435Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2435Q	ENST00000389794.3	37	c.7303	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240895	0.58995	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.68181	-0.31;-0.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81983	0.4938	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83595	0.0125	10	0.72032	D	0.01	.	19.0675	0.93117	0.0:1.0:0.0:0.0	.	2435	Q99698	LYST_HUMAN	Q	2435	ENSP00000374444:E2435Q;ENSP00000374443:E2435Q	ENSP00000374443:E2435Q	E	-	1	0	LYST	233983124	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.319000	0.79040	2.509000	0.84616	0.585000	0.79938	GAG	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	83	0.00	0	C			235916501	235916501	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	1.000	G
MAGEE1	57692	genome.wustl.edu	37	X	75649826	75649826	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:75649826C>T	ENST00000361470.2	+	1	1781	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	501	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGTTGCAGTTCCTGCTGGTGA	0.478																																						dbGAP											0													67.0	64.0	65.0					X																	75649826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1503C>T	X.37:g.75649826C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.F501	ENST00000361470.2	37	c.1503	CCDS14433.1	X																																																																																			MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	87	0.00	0	C	NM_020932		75649826	75649826	+1	no_errors	ENST00000361470	ensembl	human	known	69_37n	silent	68	10.53	8	SNP	0.588	T
MAMSTR	284358	genome.wustl.edu	37	19	49216976	49216976	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:49216976C>G	ENST00000318083.6	-	9	1024	c.961G>C	c.(961-963)Gat>Cat	p.D321H	MAMSTR_ENST00000377367.3_Missense_Mutation_p.D153H|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D153H|MAMSTR_ENST00000419611.1_Missense_Mutation_p.D218H|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D218H			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	321	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						atccTACCATCAGGCTCCACC	0.582											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													119.0	114.0	116.0					19																	49216976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.961G>C	19.37:g.49216976C>G	ENSP00000324175:p.Asp321His	Somatic	960	WXS	Illumina GAIIx	Phase_IV	B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.D321H	ENST00000318083.6	37	c.961	CCDS46137.1	19	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093787	0.36952	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.58	3.55	0.40652	.	0.885835	0.09566	N	0.784860	T	0.34337	0.0894	N	0.22421	0.69	0.09310	N	1	B	0.22909	0.077	B	0.33960	0.173	T	0.38824	-0.9643	9	0.59425	D	0.04	.	8.8181	0.35009	0.0:0.8968:0.0:0.1032	.	321	Q6ZN01	MASTR_HUMAN	H	321;218;153;218	.	ENSP00000324175:D321H	D	-	1	0	MAMSTR	53908788	0.043000	0.20138	0.025000	0.17156	0.213000	0.24496	1.080000	0.30779	1.301000	0.44836	0.543000	0.68304	GAT	MAMSTR	-	NULL	ENSG00000176909		0.582	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMSTR	HGNC	protein_coding	OTTHUMT00000466179.1	226	0.00	0	C	NM_182574		49216976	49216976	-1	no_errors	ENST00000318083	ensembl	human	known	69_37n	missense	164	14.58	28	SNP	0.111	G
HDAC10	83933	genome.wustl.edu	37	22	50688962	50688962	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:50688962G>A	ENST00000216271.5	-	3	547				HDAC10_ENST00000349505.4_Intron|HDAC10_ENST00000448072.1_Intron|HDAC10_ENST00000498366.1_Intron|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10						chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCATGCAGATGGGCAGGC	0.637																																						dbGAP											0													55.0	45.0	48.0					22																	50688962		2200	4299	6499	-	-	-	SO:0001627	intron_variant	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.195-10C>T	22.37:g.50688962G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	RNA	SNP	-	NULL	ENST00000216271.5	37	NULL	CCDS14088.1	22																																																																																			MAPK12	-	-	ENSG00000188130		0.637	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK12	HGNC	protein_coding	OTTHUMT00000104141.4	35	0.00	0	G	NM_032019		50688962	50688962	-1	no_errors	ENST00000497036	ensembl	human	known	69_37n	rna	19	29.63	8	SNP	0.000	A
MAS1L	116511	genome.wustl.edu	37	6	29455213	29455213	+	Missense_Mutation	SNP	G	G	C	rs267600937		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:29455213G>C	ENST00000377127.3	-	1	525	c.467C>G	c.(466-468)tCc>tGc	p.S156C		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	156					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CACCTCAAAGGAGAAGGGAGA	0.512																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													65.0	57.0	60.0					6																	29455213		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.467C>G	6.37:g.29455213G>C	ENSP00000366331:p.Ser156Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S156C	ENST00000377127.3	37	c.467	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	7.814	0.716309	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.39229	1.09	2.36	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27866	0.0686	L	0.60067	1.865	0.09310	N	1	P	0.35192	0.489	B	0.44133	0.442	T	0.17899	-1.0354	9	0.37606	T	0.19	.	8.3767	0.32447	0.0:0.0:1.0:0.0	.	156	P35410	MAS1L_HUMAN	C	156	ENSP00000366331:S156C	ENSP00000366331:S156C	S	-	2	0	MAS1L	29563192	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.170000	0.03118	1.367000	0.46095	0.596000	0.82720	TCC	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204687		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	43	0.00	0	G	NM_052967		29455213	29455213	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.002	C
MCCC1	56922	genome.wustl.edu	37	3	182738007	182738007	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:182738007C>A	ENST00000265594.4	-	17	2034	c.1888G>T	c.(1888-1890)Gac>Tac	p.D630Y	MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.D521Y|MCCC1-AS1_ENST00000471731.2_RNA	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	630					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|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)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTGGAATGTCAATCTCAATA	0.378																																						dbGAP											0													86.0	90.0	89.0					3																	182738007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1888G>T	3.37:g.182738007C>A	ENSP00000265594:p.Asp630Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.D630Y	ENST00000265594.4	37	c.1888	CCDS3241.1	3	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158585	0.38119	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176	D;D;D	0.95554	-3.74;-3.68;-3.46	5.87	5.87	0.94306	Biotin/lipoyl attachment (1);	0.782162	0.12933	N	0.427245	D	0.90055	0.6894	N	0.08118	0	0.80722	D	1	P;B;B	0.40266	0.71;0.446;0.452	B;B;B	0.34824	0.149;0.098;0.19	D	0.89918	0.4057	10	0.59425	D	0.04	.	18.9775	0.92743	0.0:1.0:0.0:0.0	.	583;521;630	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	Y	630;521;480;583	ENSP00000265594:D630Y;ENSP00000419898:D521Y;ENSP00000420433:D583Y	ENSP00000265594:D630Y	D	-	1	0	MCCC1	184220701	0.992000	0.36948	0.835000	0.33067	0.709000	0.40893	2.581000	0.46077	2.785000	0.95823	0.655000	0.94253	GAC	MCCC1	-	pfscan_Biotin_lipoyl	ENSG00000078070		0.378	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	162	0.00	0	C	NM_020166		182738007	182738007	-1	no_errors	ENST00000265594	ensembl	human	known	69_37n	missense	112	10.40	13	SNP	0.991	A
MB21D2	151963	genome.wustl.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						dbGAP											2	Substitution - Missense(2)	lung(2)											34.0	35.0	34.0					3																	192516720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q311E	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	39	0.00	0	G	NM_178496		192516720	192516720	-1	no_errors	ENST00000392452	ensembl	human	known	69_37n	missense	21	24.24	8	SNP	1.000	C
MCHR2	84539	genome.wustl.edu	37	6	100369053	100369053	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:100369053C>G	ENST00000281806.2	-	6	1100	c.786G>C	c.(784-786)ctG>ctC	p.L262L	MCHR2_ENST00000369212.2_Silent_p.L262L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGCAGCACTCAGGATAAAGA	0.468																																						dbGAP											0													211.0	191.0	198.0					6																	100369053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.786G>C	6.37:g.100369053C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt	p.L262	ENST00000281806.2	37	c.786	CCDS5044.1	6																																																																																			MCHR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000152034		0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	395	0.00	0	C	NM_032503		100369053	100369053	-1	no_errors	ENST00000281806	ensembl	human	known	69_37n	silent	199	10.36	23	SNP	0.083	G
MCM6	4175	genome.wustl.edu	37	2	136622641	136622641	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:136622641C>G	ENST00000264156.2	-	7	1080	c.1020G>C	c.(1018-1020)atG>atC	p.M340I	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	340					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TATCTTGACTCATCTCAAACA	0.383																																					Ovarian(196;141 2104 8848 24991 25939)	dbGAP											0													191.0	177.0	182.0					2																	136622641		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1020G>C	2.37:g.136622641C>G	ENSP00000264156:p.Met340Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase	p.M340I	ENST00000264156.2	37	c.1020	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.080504	0.94050	.	.	ENSG00000076003	ENST00000264156	T	0.05649	3.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00778	-1.1570	10	0.41790	T	0.15	-23.6212	19.9145	0.97053	0.0:1.0:0.0:0.0	.	340	Q14566	MCM6_HUMAN	I	340	ENSP00000264156:M340I	ENSP00000264156:M340I	M	-	3	0	MCM6	136339111	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.435000	0.80391	2.707000	0.92482	0.557000	0.71058	ATG	MCM6	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase	ENSG00000076003		0.383	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	377	0.00	0	C	NM_005915		136622641	136622641	-1	no_errors	ENST00000264156	ensembl	human	known	69_37n	missense	137	27.89	53	SNP	1.000	G
MCMDC2	157777	genome.wustl.edu	37	8	67789746	67789746	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:67789746C>G	ENST00000422365.2	+	5	619	c.448C>G	c.(448-450)Ctt>Gtt	p.L150V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.L150V|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L87V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L150V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L150V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	150					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						GGCAAGATTTCTTTGTTCAGA	0.363																																						dbGAP											0													88.0	79.0	82.0					8																	67789746		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.448C>G	8.37:g.67789746C>G	ENSP00000413632:p.Leu150Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.L150V	ENST00000422365.2	37	c.448	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808474	0.31961	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.25414	3.74;3.74;3.74;3.74;1.8	4.65	2.82	0.32997	.	0.071575	0.53938	D	0.000058	T	0.21186	0.0510	M	0.62723	1.935	0.45852	D	0.998716	B;B;B;B	0.31318	0.319;0.155;0.155;0.241	B;B;B;B	0.30105	0.111;0.033;0.033;0.072	T	0.03993	-1.0986	10	0.22109	T	0.4	-6.5431	5.6048	0.17373	0.0:0.6209:0.1422:0.2369	.	87;150;150;150	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	V	22;150;150;150;150;87	ENSP00000379837:L150V;ENSP00000413632:L150V;ENSP00000428037:L150V;ENSP00000317234:L150V;ENSP00000445629:L87V	ENSP00000317234:L150V	L	+	1	0	C8orf45	67952300	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.522000	0.53480	0.471000	0.27319	-0.229000	0.12294	CTT	MCMDC2	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.363	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	217	0.00	0	C	NM_173518		67789746	67789746	+1	no_errors	ENST00000422365	ensembl	human	known	69_37n	missense	109	17.42	23	SNP	1.000	G
MDC1	9656	genome.wustl.edu	37	6	30672142	30672142	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:30672142G>C	ENST00000376406.3	-	10	5465	c.4818C>G	c.(4816-4818)gtC>gtG	p.V1606V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V1342V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1606	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CAGGGGTCTTGACAGAGGACC	0.597								Other conserved DNA damage response genes																														dbGAP											0													118.0	130.0	126.0					6																	30672142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4818C>G	6.37:g.30672142G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V1606	ENST00000376406.3	37	c.4818	CCDS34384.1	6																																																																																			MDC1	-	NULL	ENSG00000137337		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	223	0.00	0	G	NM_014641		30672142	30672142	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	silent	119	24.53	39	SNP	0.000	C
MDN1	23195	genome.wustl.edu	37	6	90368526	90368526	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:90368526C>G	ENST00000369393.3	-	89	14939	c.14824G>C	c.(14824-14826)Gag>Cag	p.E4942Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E4942Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4942					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGCCTTCCTCAGGCTCCTGT	0.502																																						dbGAP											0													263.0	243.0	250.0					6																	90368526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14824G>C	6.37:g.90368526C>G	ENSP00000358400:p.Glu4942Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4942Q	ENST00000369393.3	37	c.14824	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104135	0.56291	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04015	3.73;3.73	4.96	4.08	0.47627	.	0.591953	0.16586	N	0.207988	T	0.02230	0.0069	L	0.36672	1.1	0.38097	D	0.937135	B	0.27882	0.192	B	0.23716	0.048	T	0.43814	-0.9368	10	0.45353	T	0.12	.	15.2339	0.73413	0.0:0.8585:0.1415:0.0	.	4942	Q9NU22	MDN1_HUMAN	Q	4942	ENSP00000358400:E4942Q;ENSP00000413970:E4942Q	ENSP00000358400:E4942Q	E	-	1	0	MDN1	90425247	0.997000	0.39634	0.953000	0.39169	0.620000	0.37586	3.662000	0.54510	1.198000	0.43158	-0.519000	0.04390	GAG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.502	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	820	0.00	0	C			90368526	90368526	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	448	13.18	68	SNP	0.997	G
MED13L	23389	genome.wustl.edu	37	12	116446775	116446775	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:116446775C>G	ENST00000281928.3	-	10	1649	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	481						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAAGGGTCTCTTTTGCAGCT	0.463																																						dbGAP											0													313.0	296.0	301.0					12																	116446775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1443G>C	12.37:g.116446775C>G	ENSP00000281928:p.Lys481Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.K481N	ENST00000281928.3	37	c.1443	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122417	0.37436	.	.	ENSG00000123066	ENST00000281928	T	0.76839	-1.05	5.76	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.65975	2.015	0.50313	D	0.999869	D	0.71674	0.998	D	0.76071	0.987	D	0.84915	0.0850	10	0.59425	D	0.04	.	8.8257	0.35054	0.0:0.7636:0.0:0.2364	.	481	Q71F56	MD13L_HUMAN	N	481	ENSP00000281928:K481N	ENSP00000281928:K481N	K	-	3	2	MED13L	114931158	0.998000	0.40836	1.000000	0.80357	0.917000	0.54804	0.366000	0.20365	1.441000	0.47550	0.655000	0.94253	AAG	MED13L	-	NULL	ENSG00000123066		0.463	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	838	0.00	0	C			116446775	116446775	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	525	10.68	63	SNP	1.000	G
MED14	9282	genome.wustl.edu	37	X	40560457	40560457	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:40560457C>G	ENST00000324817.1	-	12	1568	c.1450G>C	c.(1450-1452)Gat>Cat	p.D484H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	484	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCATATCATCATTCACAGAC	0.323																																						dbGAP											0													107.0	90.0	96.0					X																	40560457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1450G>C	X.37:g.40560457C>G	ENSP00000323720:p.Asp484His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.D484H	ENST00000324817.1	37	c.1450	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197662	0.79015	.	.	ENSG00000180182	ENST00000324817	T	0.44881	0.91	5.21	5.21	0.72293	.	0.045909	0.85682	D	0.000000	T	0.58047	0.2095	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	P	0.58820	0.846	T	0.60596	-0.7232	10	0.54805	T	0.06	.	17.8366	0.88699	0.0:1.0:0.0:0.0	.	484	O60244	MED14_HUMAN	H	484	ENSP00000323720:D484H	ENSP00000323720:D484H	D	-	1	0	MED14	40445401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.144000	0.66660	0.594000	0.82650	GAT	MED14	-	NULL	ENSG00000180182		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	319	0.00	0	C	NM_004229		40560457	40560457	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	139	11.46	18	SNP	1.000	G
MED16	10025	genome.wustl.edu	37	19	891096	891096	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:891096C>T	ENST00000589119.1	-	1	35	c.36G>A	c.(34-36)atG>atA	p.M12I	MED16_ENST00000395808.3_Missense_Mutation_p.M12I|MED16_ENST00000269814.4_Missense_Mutation_p.M12I|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.M12I|RNU6-9_ENST00000384776.1_RNA|MED16_ENST00000312090.6_Missense_Mutation_p.M12I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	12					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		CCAAGTCCATCATCCCACCTG	0.627																																						dbGAP											0													131.0	103.0	113.0					19																	891096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.36G>A	19.37:g.891096C>T	ENSP00000464810:p.Met12Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M12I	ENST00000589119.1	37	c.36	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.40756	1.59;1.02;1.02	4.09	-4.28	0.03732	.	1.062160	0.07320	N	0.877364	T	0.23886	0.0578	N	0.19112	0.55	0.20926	N	0.999823	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.24119	-1.0169	10	0.56958	D	0.05	-0.0325	5.4923	0.16783	0.0:0.4602:0.2475:0.2924	.	12;12;12;12;12	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	I	12	ENSP00000325612:M12I;ENSP00000308528:M12I;ENSP00000379153:M12I	ENSP00000269814:M12I	M	-	3	0	MED16	842096	0.135000	0.22499	0.005000	0.12908	0.969000	0.65631	0.042000	0.13949	-1.130000	0.02914	0.561000	0.74099	ATG	MED16	-	NULL	ENSG00000175221		0.627	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	72	0.00	0	C	NM_005481		891096	891096	-1	no_errors	ENST00000325464	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.004	T
MEF2A	4205	genome.wustl.edu	37	15	100250838	100250838	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:100250838G>C	ENST00000557785.1	+	10	1334		c.e10-1		MEF2A_ENST00000558812.1_Splice_Site|MEF2A_ENST00000453228.2_Splice_Site|MEF2A_ENST00000354410.5_Splice_Site|MEF2A_ENST00000449277.2_Splice_Site|MEF2A_ENST00000338042.6_Splice_Site|MEF2A_ENST00000557942.1_Splice_Site	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A						apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|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 from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCCTTTGTAGATTATTCACT	0.512																																						dbGAP											0													66.0	61.0	63.0					15																	100250838		1945	4156	6101	-	-	-	SO:0001630	splice_region_variant	0				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.986-1G>C	15.37:g.100250838G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Splice_Site	SNP	-	e10-1	ENST00000557785.1	37	c.1013-1	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935429	0.52866	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.704	0.96066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEF2A	98068361	1.000000	0.71417	0.996000	0.52242	0.449000	0.32228	9.221000	0.95188	2.659000	0.90383	0.563000	0.77884	.	MEF2A	-	-	ENSG00000068305		0.512	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	100	0.00	0	G		Intron	100250838	100250838	+1	no_errors	ENST00000338042	ensembl	human	known	69_37n	splice_site	37	13.95	6	SNP	1.000	C
MEP1B	4225	genome.wustl.edu	37	18	29787254	29787254	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:29787254C>T	ENST00000269202.6	+	8	634	c.587C>T	c.(586-588)tCa>tTa	p.S196L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S196L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	196	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACGATATATCAGATTCCCTG	0.348																																						dbGAP											0													68.0	63.0	65.0					18																	29787254		1858	4105	5963	-	-	-	SO:0001583	missense	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.587C>T	18.37:g.29787254C>T	ENSP00000269202:p.Ser196Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.S196L	ENST00000269202.6	37	c.587	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774657	0.49786	.	.	ENSG00000141434	ENST00000269202	T	0.62232	0.04	5.84	4.05	0.47172	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.114495	0.64402	D	0.000007	T	0.55194	0.1905	L	0.47078	1.49	0.45295	D	0.998299	B	0.17038	0.02	B	0.24394	0.053	T	0.52815	-0.8525	10	0.33940	T	0.23	-3.6125	12.9515	0.58403	0.0:0.8663:0.0:0.1337	.	196	Q16820	MEP1B_HUMAN	L	196	ENSP00000269202:S196L	ENSP00000269202:S196L	S	+	2	0	MEP1B	28041252	0.997000	0.39634	0.195000	0.23364	0.374000	0.29953	4.962000	0.63687	1.481000	0.48307	0.591000	0.81541	TCA	MEP1B	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000141434		0.348	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	88	0.00	0	C	NM_005925		29787254	29787254	+1	no_errors	ENST00000269202	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	0.904	T
MEP1B	4225	genome.wustl.edu	37	18	29797015	29797015	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:29797015C>T	ENST00000269202.6	+	13	1868	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	MEP1B_ENST00000581447.1_Silent_p.L607L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	607	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Required for proteolytic processing.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCAAGACCTCTGCTCAAAAA	0.448																																						dbGAP											0													142.0	132.0	135.0					18																	29797015		1947	4149	6096	-	-	-	SO:0001819	synonymous_variant	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1821C>T	18.37:g.29797015C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM35|B9EGL6|Q670J1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.L607	ENST00000269202.6	37	c.1821	CCDS45846.1	18																																																																																			MEP1B	-	pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom	ENSG00000141434		0.448	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	430	0.00	0	C	NM_005925		29797015	29797015	+1	no_errors	ENST00000269202	ensembl	human	known	69_37n	silent	196	21.60	54	SNP	0.028	T
METTL7B	196410	genome.wustl.edu	37	12	56075776	56075776	+	Missense_Mutation	SNP	G	G	A	rs138407179	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:56075776G>A	ENST00000394252.3	+	1	447	c.238G>A	c.(238-240)Gga>Aga	p.G80R		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	80							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						GCTGGGCTGCGGAACCGGAGC	0.572																																						dbGAP											0													58.0	57.0	57.0					12																	56075776		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.238G>A	12.37:g.56075776G>A	ENSP00000377796:p.Gly80Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.G80R	ENST00000394252.3	37	c.238	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818334	0.90790	.	.	ENSG00000170439	ENST00000394252	T	0.68479	-0.33	4.96	4.96	0.65561	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94538	0.7742	10	0.87932	D	0	-19.5073	15.78	0.78252	0.0:0.0:1.0:0.0	.	80	Q6UX53	MET7B_HUMAN	R	80	ENSP00000377796:G80R	ENSP00000377796:G80R	G	+	1	0	METTL7B	54362043	1.000000	0.71417	0.947000	0.38551	0.827000	0.46813	6.580000	0.74040	2.565000	0.86533	0.655000	0.94253	GGA	METTL7B	-	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase	ENSG00000170439		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1	122	0.00	0	G	NM_152637		56075776	56075776	+1	no_errors	ENST00000394252	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.999	A
MFN2	9927	genome.wustl.edu	37	1	12049355	12049355	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:12049355G>C	ENST00000235329.5	+	3	452	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	MFN2_ENST00000444836.1_Missense_Mutation_p.E44Q|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	44					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCATTTTTGAGCAGCTGGG	0.498																																						dbGAP											0													102.0	96.0	98.0					1																	12049355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.130G>C	1.37:g.12049355G>C	ENSP00000235329:p.Glu44Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.E44Q	ENST00000235329.5	37	c.130	CCDS30587.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.008189|4.008189	0.75046|0.75046	.|.	.|.	ENSG00000116688|ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236|ENST00000376337	D;D;D|.	0.99382|.	-5.8;-5.8;-3.6|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.050383|.	0.85682|.	D|.	0.000000|.	T|T	0.73289|0.73289	0.3568|0.3568	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B|.	0.30179|.	0.271|.	B|.	0.29524|.	0.103|.	T|T	0.69057|0.69057	-0.5246|-0.5246	9|5	.|.	.|.	.|.	-32.247|-32.247	19.2304|19.2304	0.93836|0.93836	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44|.	O95140|.	MFN2_HUMAN|.	Q|F	44|19	ENSP00000416338:E44Q;ENSP00000235329:E44Q;ENSP00000412023:E44Q|.	.|.	E|L	+|+	1|3	0|2	MFN2|MFN2	11971942|11971942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAG|TTG	MFN2	-	NULL	ENSG00000116688		0.498	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	159	0.00	0	G	NM_014874		12049355	12049355	+1	no_errors	ENST00000235329	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	C
MGAM	8972	genome.wustl.edu	37	7	141784373	141784373	+	Intron	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:141784373C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.R2146C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGCTGTGTCGCTATGGCTA	0.483																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-10047C>T	7.37:g.141784373C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R2147C	ENST00000549489.2	37	c.6439	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748005	0.49257	.	.	ENSG00000257335	ENST00000475668	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	T	0.77478	0.4136	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.80207	-0.1478	5	0.87932	D	0	.	17.8409	0.88715	0.0:1.0:0.0:0.0	.	.	.	.	C	2147	.	ENSP00000417515:R2147C	R	+	1	0	MGAM	141430842	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.443000	0.80521	2.598000	0.87819	0.442000	0.29010	CGC	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	159	0.00	0	C			141784373	141784373	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	185	12.32	26	SNP	1.000	T
MGARP	84709	genome.wustl.edu	37	4	140187981	140187981	+	Silent	SNP	C	C	T	rs544624566	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:140187981C>T	ENST00000398955.1	-	4	674	c.495G>A	c.(493-495)gcG>gcA	p.A165A		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	165					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TGGTTTCCCTCGCCGCTGCAT	0.522																																						dbGAP											0													203.0	200.0	201.0					4																	140187981		2035	4185	6220	-	-	-	SO:0001819	synonymous_variant	0			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.495G>A	4.37:g.140187981C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZC3	Silent	SNP	NULL	p.A165	ENST00000398955.1	37	c.495	CCDS43269.1	4																																																																																			MGARP	-	NULL	ENSG00000137463		0.522	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGARP	HGNC	protein_coding	OTTHUMT00000364536.1	397	0.00	0	C	NM_032623		140187981	140187981	-1	no_errors	ENST00000398955	ensembl	human	known	69_37n	silent	230	10.51	27	SNP	0.000	T
MIER2	54531	genome.wustl.edu	37	19	326542	326542	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:326542C>T	ENST00000264819.4	-	6	560	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GAGTCCTCCTCGGTGTCGGAG	0.592																																						dbGAP											0													133.0	131.0	132.0					19																	326542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.550G>A	19.37:g.326542C>T	ENSP00000264819:p.Glu184Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E184K	ENST00000264819.4	37	c.550	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339839	0.60963	.	.	ENSG00000105556	ENST00000264819	T	0.42131	0.98	4.47	4.47	0.54385	.	0.323503	0.22091	N	0.064741	T	0.30634	0.0771	L	0.29908	0.895	0.47245	D	0.999369	D	0.58970	0.984	B	0.41988	0.372	T	0.12041	-1.0563	10	0.66056	D	0.02	-25.0068	9.9888	0.41858	0.0:0.9084:0.0:0.0916	.	184	Q8N344	MIER2_HUMAN	K	184	ENSP00000264819:E184K	ENSP00000264819:E184K	E	-	1	0	MIER2	277542	0.998000	0.40836	0.938000	0.37757	0.897000	0.52465	4.969000	0.63735	2.324000	0.78689	0.650000	0.86243	GAG	MIER2	-	NULL	ENSG00000105556		0.592	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	133	0.00	0	C	XM_041843		326542	326542	-1	no_errors	ENST00000264819	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	0.958	T
MIER2	54531	genome.wustl.edu	37	19	326574	326574	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:326574C>A	ENST00000264819.4	-	6	528	c.518G>T	c.(517-519)aGa>aTa	p.R173I	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R173T(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GCCAGGCTCTCTGTCTTCATC	0.562																																						dbGAP											1	Substitution - Missense(1)	lung(1)											111.0	109.0	110.0					19																	326574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.518G>T	19.37:g.326574C>A	ENSP00000264819:p.Arg173Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R173I	ENST00000264819.4	37	c.518	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	C	6.174	0.400224	0.11696	.	.	ENSG00000105556	ENST00000264819	T	0.23147	1.92	4.65	0.266	0.15617	.	0.551738	0.16099	N	0.229652	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B	0.28208	0.203	B	0.24394	0.053	T	0.16012	-1.0417	10	0.72032	D	0.01	-5.6411	5.149	0.15000	0.0:0.3295:0.1511:0.5194	.	173	Q8N344	MIER2_HUMAN	I	173	ENSP00000264819:R173I	ENSP00000264819:R173I	R	-	2	0	MIER2	277574	0.114000	0.22134	0.000000	0.03702	0.045000	0.14185	0.590000	0.23954	-0.196000	0.10366	-0.247000	0.11927	AGA	MIER2	-	NULL	ENSG00000105556		0.562	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	103	0.00	0	C	XM_041843		326574	326574	-1	no_errors	ENST00000264819	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	0.012	A
C17orf107	100130311	genome.wustl.edu	37	17	4800501	4800501	+	5'Flank	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:4800501G>A	ENST00000381365.3	+	0	0				MINK1_ENST00000355280.6_Silent_p.V1306V|MINK1_ENST00000453408.3_Silent_p.V1286V|MINK1_ENST00000347992.7_Silent_p.V1277V|C17orf107_ENST00000521575.1_5'Flank	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						CCACCCAGGTGTTTTTTGCCT	0.582																																						dbGAP											0													58.0	62.0	61.0					17																	4800501		1911	4128	6039	-	-	-	SO:0001631	upstream_gene_variant	0			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4800501G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.V1306	ENST00000381365.3	37	c.3918	CCDS45591.1	17																																																																																			MINK1	-	smart_Citron	ENSG00000141503		0.582	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000380556.1	202	0.00	0	G	NM_001145536		4800501	4800501	+1	no_errors	ENST00000355280	ensembl	human	known	69_37n	silent	94	11.21	12	SNP	1.000	A
PRKCA	5578	genome.wustl.edu	37	17	64783247	64783247	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:64783247G>A	ENST00000413366.3	+	15	1739				MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CATGccccaagataaccagca	0.507																																						dbGAP											0													80.0	73.0	75.0					17																	64783247		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1713+155G>A	17.37:g.64783247G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU22|Q15137|Q32M72|Q96RE4	RNA	SNP	-	NULL	ENST00000413366.3	37	NULL	CCDS11664.1	17																																																																																			MIR634	-	-	ENSG00000207943		0.507	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR634	HGNC	protein_coding	OTTHUMT00000446976.1	133	0.00	0	G			64783247	64783247	+1	no_errors	ENST00000385208	ensembl	human	known	69_37n	rna	82	14.58	14	SNP	0.263	A
MIR7-3HG	284424	genome.wustl.edu	37	19	4772199	4772199	+	lincRNA	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:4772199C>T	ENST00000586721.1	+	0	533				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		ccctccacctccaaccagagc	0.517																																						dbGAP											0													171.0	147.0	155.0					19																	4772199		692	1591	2283	-	-	-			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4772199C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W630|Q17RJ9|Q8N6C6	Missense_Mutation	SNP	NULL	p.S101F	ENST00000586721.1	37	c.302		19																																																																																			MIR7-3HG	-	NULL	ENSG00000176840		0.517	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	HGNC	lincRNA	OTTHUMT00000459345.1	286	0.00	0	C	NR_027148		4772199	4772199	+1	no_errors	ENST00000592709	ensembl	human	novel	69_37n	missense	132	12.00	18	SNP	0.000	T
MIS18BP1	55320	genome.wustl.edu	37	14	45693461	45693461	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:45693461C>T	ENST00000310806.4	-	11	2787	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	777					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTCTGTTTCACTTTCTTCA	0.353																																						dbGAP											0													122.0	121.0	121.0					14																	45693461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2329G>A	14.37:g.45693461C>T	ENSP00000309790:p.Glu777Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E777K	ENST00000310806.4	37	c.2329	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143635	0.37825	.	.	ENSG00000129534	ENST00000310806	T	0.24350	1.86	5.72	2.89	0.33648	.	0.233307	0.41712	N	0.000827	T	0.20981	0.0505	L	0.52364	1.645	0.34908	D	0.747159	B	0.25390	0.125	B	0.20184	0.028	T	0.15578	-1.0432	10	0.33141	T	0.24	-5.7298	8.596	0.33716	0.0:0.7565:0.0:0.2435	.	777	Q6P0N0	M18BP_HUMAN	K	777	ENSP00000309790:E777K	ENSP00000309790:E777K	E	-	1	0	MIS18BP1	44763211	0.000000	0.05858	0.177000	0.23020	0.847000	0.48162	-0.218000	0.09240	0.431000	0.26258	0.655000	0.94253	GAA	MIS18BP1	-	NULL	ENSG00000129534		0.353	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	374	0.00	0	C			45693461	45693461	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	188	11.68	25	SNP	0.926	T
MKNK1	8569	genome.wustl.edu	37	1	47048952	47048952	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:47048952C>T	ENST00000371946.4	-	3	247	c.84G>A	c.(82-84)agG>agA	p.R28R	MKNK1_ENST00000465783.1_Silent_p.R28R|MKNK1_ENST00000341183.5_Silent_p.R28R|MKNK1_ENST00000371945.4_Silent_p.R28R|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000428112.2_Silent_p.R28R|MKNK1_ENST00000525888.1_5'Flank|MKNK1_ENST00000545730.1_Silent_p.R28R	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	28					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCTTCTTCTTCCTCCTCCTGT	0.532																																						dbGAP											0													88.0	94.0	92.0					1																	47048952		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.84G>A	1.37:g.47048952C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	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.R28	ENST00000371946.4	37	c.84	CCDS538.1	1																																																																																			MKNK1	-	NULL	ENSG00000079277		0.532	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	121	0.00	0	C	NM_003684		47048952	47048952	-1	no_errors	ENST00000371946	ensembl	human	known	69_37n	silent	56	17.65	12	SNP	0.960	T
KMT2A	4297	genome.wustl.edu	37	11	118363787	118363787	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:118363787G>C	ENST00000389506.5	+	16	5011	c.5011G>C	c.(5011-5013)Gac>Cac	p.D1671H	KMT2A_ENST00000534358.1_Missense_Mutation_p.D1674H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D1633H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1671					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAAGCCTCCAGACTTAAATCC	0.438																																						dbGAP											0													88.0	93.0	91.0					11																	118363787		2200	4296	6496	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5011G>C	11.37:g.118363787G>C	ENSP00000374157:p.Asp1671His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.D1671H	ENST00000389506.5	37	c.5011	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491546	0.64074	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.63;-1.64;-1.61	5.28	5.28	0.74379	Bromodomain (1);	0.052911	0.85682	D	0.000000	D	0.87281	0.6138	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74023	0.982;0.956	D	0.88687	0.3206	10	0.72032	D	0.01	.	18.9088	0.92474	0.0:0.0:1.0:0.0	.	1674;1671	E9PQG7;Q03164	.;MLL1_HUMAN	H	1674;1671;1633;581	ENSP00000436786:D1674H;ENSP00000374157:D1671H;ENSP00000346516:D1633H	ENSP00000346516:D1633H	D	+	1	0	MLL	117868997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.320000	0.96346	2.449000	0.82847	0.561000	0.74099	GAC	MLL	-	smart_Bromodomain,pirsf_MeTrfase_trithorax	ENSG00000118058		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	106	0.00	0	G	NM_005933		118363787	118363787	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	57	14.71	10	SNP	1.000	C
MMP11	4320	genome.wustl.edu	37	22	24121532	24121532	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:24121532G>C	ENST00000215743.3	+	2	319	c.267G>C	c.(265-267)ctG>ctC	p.L89L	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	89					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L89L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTGATGGGCTGAGTGCCCGCA	0.682																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											22.0	23.0	23.0					22																	24121532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.267G>C	22.37:g.24121532G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.L89	ENST00000215743.3	37	c.267	CCDS13816.1	22																																																																																			MMP11	-	pirsf_Pept_M10A_matrix_strom	ENSG00000099953		0.682	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	18	0.00	0	G	NM_005940		24121532	24121532	+1	no_errors	ENST00000215743	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	0.010	C
MOGAT2	80168	genome.wustl.edu	37	11	75442295	75442295	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:75442295C>G	ENST00000198801.5	+	6	1039	c.969C>G	c.(967-969)ttC>ttG	p.F323L	MOGAT2_ENST00000526712.1_Missense_Mutation_p.F241L	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	323					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.F323L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AACTTAAGTTCAACATCCCTG	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											110.0	96.0	101.0					11																	75442295		2200	4293	6493	-	-	-	SO:0001583	missense	0			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.969C>G	11.37:g.75442295C>G	ENSP00000198801:p.Phe323Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	pfam_DAGAT	p.F323L	ENST00000198801.5	37	c.969	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398337	0.62177	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14893	2.47;2.47	6.17	6.17	0.99709	.	0.168279	0.56097	D	0.000040	T	0.22475	0.0542	L	0.52206	1.635	0.32512	N	0.537447	B	0.29341	0.242	B	0.36766	0.232	T	0.17592	-1.0364	10	0.66056	D	0.02	-3.3067	13.6506	0.62308	0.0:0.9262:0.0:0.0738	.	323	Q3SYC2	MOGT2_HUMAN	L	323;241	ENSP00000198801:F323L;ENSP00000436283:F241L	ENSP00000198801:F323L	F	+	3	2	MOGAT2	75119943	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.239000	0.32719	2.941000	0.99782	0.655000	0.94253	TTC	MOGAT2	-	pfam_DAGAT	ENSG00000166391		0.552	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	HGNC	protein_coding	OTTHUMT00000383520.1	92	0.00	0	C	NM_025098		75442295	75442295	+1	no_errors	ENST00000198801	ensembl	human	known	69_37n	missense	52	15.87	10	SNP	1.000	G
MORC3	23515	genome.wustl.edu	37	21	37732314	37732314	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:37732314G>C	ENST00000400485.1	+	11	1346	c.1270G>C	c.(1270-1272)Gat>Cat	p.D424H	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	424					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAATTACCTGATGGGATGGA	0.428																																						dbGAP											0													194.0	185.0	188.0					21																	37732314		2030	4218	6248	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1270G>C	21.37:g.37732314G>C	ENSP00000383333:p.Asp424His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.D424H	ENST00000400485.1	37	c.1270	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760243	0.89932	.	.	ENSG00000159256	ENST00000400485	T	0.15487	2.42	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.01786	-1.1274	10	0.38643	T	0.18	-30.5267	19.805	0.96527	0.0:0.0:1.0:0.0	.	424	Q14149	MORC3_HUMAN	H	424	ENSP00000383333:D424H	ENSP00000383333:D424H	D	+	1	0	MORC3	36654184	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.581000	0.98210	2.672000	0.90937	0.557000	0.71058	GAT	MORC3	-	pfam_Znf_CW,pfscan_Znf_CW	ENSG00000159256		0.428	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	292	0.00	0	G	NM_015358		37732314	37732314	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	162	14.29	27	SNP	1.000	C
MORC3	23515	genome.wustl.edu	37	21	37741289	37741289	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:37741289G>C	ENST00000400485.1	+	15	1699	c.1623G>C	c.(1621-1623)ttG>ttC	p.L541F	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	541					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTTCAGCTTGAAACGGAGAC	0.299																																						dbGAP											0													24.0	21.0	22.0					21																	37741289		1808	4068	5876	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1623G>C	21.37:g.37741289G>C	ENSP00000383333:p.Leu541Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.L541F	ENST00000400485.1	37	c.1623	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.199046	0.06219	.	.	ENSG00000159256	ENST00000400485	T	0.15256	2.44	4.8	-0.803	0.10886	.	1.540820	0.03688	N	0.246672	T	0.12732	0.0309	L	0.50333	1.59	0.28012	N	0.934866	B	0.06786	0.001	B	0.06405	0.002	T	0.24083	-1.0170	10	0.09843	T	0.71	-0.1005	0.7884	0.01053	0.2988:0.1999:0.3274:0.174	.	541	Q14149	MORC3_HUMAN	F	541	ENSP00000383333:L541F	ENSP00000383333:L541F	L	+	3	2	MORC3	36663159	0.606000	0.26949	0.541000	0.28102	0.452000	0.32318	-0.075000	0.11431	0.018000	0.15052	-0.440000	0.05779	TTG	MORC3	-	NULL	ENSG00000159256		0.299	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	85	0.00	0	G	NM_015358		37741289	37741289	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.102	C
MPL	4352	genome.wustl.edu	37	1	43814957	43814957	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:43814957C>G	ENST00000372470.3	+	10	1534	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	MPL_ENST00000413998.2_Missense_Mutation_p.L498V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	498					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.A497_L498insLVIA(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GGTGACCGCTCTGCATCTAGT	0.662			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	dbGAP	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											115.0	120.0	118.0					1																	43814957		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1492C>G	1.37:g.43814957C>G	ENSP00000361548:p.Leu498Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUZ0	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L498V	ENST00000372470.3	37	c.1492	CCDS483.1	1	.	.	.	.	.	.	.	.	.	.	c	9.695	1.152945	0.21371	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.83075	-1.68;-1.6	4.5	3.51	0.40186	.	1.579370	0.03490	N	0.216418	D	0.83926	0.5360	L	0.56769	1.78	0.20489	N	0.999897	B;B;P	0.45902	0.307;0.027;0.868	B;B;B	0.43658	0.138;0.009;0.426	T	0.72293	-0.4336	10	0.56958	D	0.05	-0.2616	11.3141	0.49381	0.0:0.7964:0.2036:0.0	.	491;498;498	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	V	498	ENSP00000361548:L498V;ENSP00000414004:L498V	ENSP00000361546:L498V	L	+	1	2	MPL	43587544	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	0.953000	0.29162	2.039000	0.60335	0.444000	0.29173	CTG	MPL	-	NULL	ENSG00000117400		0.662	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	131	0.00	0	C	NM_005373		43814957	43814957	+1	no_errors	ENST00000372470	ensembl	human	known	69_37n	missense	102	14.88	18	SNP	0.516	G
MPO	4353	genome.wustl.edu	37	17	56355507	56355507	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:56355507C>T	ENST00000225275.3	-	7	1062		c.e7-1		MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Splice_Site	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase						aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGGGCGGGATCTGAGGCACAG	0.632																																						dbGAP											0													62.0	61.0	61.0					17																	56355507		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.886-1G>A	17.37:g.56355507C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Splice_Site	SNP	-	e6-1	ENST00000225275.3	37	c.982-1	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072242	0.76415	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPO	53710506	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.776000	0.85560	2.518000	0.84900	0.561000	0.74099	.	MPO	-	-	ENSG00000005381		0.632	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	126	0.00	0	C		Intron	56355507	56355507	-1	no_errors	ENST00000340482	ensembl	human	known	69_37n	splice_site	63	12.50	9	SNP	1.000	T
MPO	4353	genome.wustl.edu	37	17	56358002	56358002	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:56358002G>C	ENST00000225275.3	-	1	294	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.L40V	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	40					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L40V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGCGTGGCCAGAATGGCCAGG	0.582																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											65.0	61.0	62.0					17																	56358002		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.118C>G	17.37:g.56358002G>C	ENSP00000225275:p.Leu40Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L40V	ENST00000225275.3	37	c.118	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791260	0.50102	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75704	-0.96;-0.68	5.46	-0.437	0.12272	.	1.197550	0.06482	N	0.733022	T	0.64757	0.2627	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50398	-0.8833	10	0.40728	T	0.16	-3.7684	2.5543	0.04756	0.1637:0.2696:0.4286:0.1381	.	40	P05164	PERM_HUMAN	V	40	ENSP00000344419:L40V;ENSP00000225275:L40V	ENSP00000225275:L40V	L	-	1	2	MPO	53713001	0.000000	0.05858	0.031000	0.17742	0.734000	0.41952	0.087000	0.14958	0.250000	0.21479	0.561000	0.74099	CTG	MPO	-	NULL	ENSG00000005381		0.582	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	88	0.00	0	G			56358002	56358002	-1	no_errors	ENST00000340482	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	0.002	C
MRPL37	51253	genome.wustl.edu	37	1	54670807	54670807	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:54670807C>T	ENST00000360840.5	+	2	540	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000605337.1_Silent_p.L155L	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	155					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CGAGTGCGTTCTGAATGTGAT	0.488																																						dbGAP											0													107.0	100.0	102.0					1																	54670807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.463C>T	1.37:g.54670807C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	pfam_Ribosomal_L37/S30	p.L155	ENST00000360840.5	37	c.463	CCDS589.1	1																																																																																			MRPL37	-	pfam_Ribosomal_L37/S30	ENSG00000116221		0.488	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	128	0.00	0	C	NM_016491		54670807	54670807	+1	no_errors	ENST00000360840	ensembl	human	known	69_37n	silent	58	18.31	13	SNP	0.999	T
MR1	3140	genome.wustl.edu	37	1	181018285	181018285	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:181018285C>G	ENST00000367580.5	+	2	170	c.165C>G	c.(163-165)atC>atG	p.I55M	MR1_ENST00000367579.3_Missense_Mutation_p.I55M|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.I55M|MR1_ENST00000282990.6_Missense_Mutation_p.I55M	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	55	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CGCACCCTATCACCACATATG	0.567																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													56.0	55.0	56.0					1																	181018285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.165C>G	1.37:g.181018285C>G	ENSP00000356552:p.Ile55Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.I55M	ENST00000367580.5	37	c.165	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533114	0.45073	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00711	5.8;5.8;5.8;5.8	4.54	1.56	0.23342	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.311695	0.27478	N	0.019193	T	0.01905	0.0060	L	0.45352	1.415	0.09310	N	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.997;0.997;0.999;0.997	T	0.46527	-0.9185	10	0.87932	D	0	.	4.88	0.13674	0.0:0.6309:0.1746:0.1945	.	55;55;55;55;55	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	M	55	ENSP00000388504:I55M;ENSP00000356552:I55M;ENSP00000282990:I55M;ENSP00000356551:I55M	ENSP00000282990:I55M	I	+	3	3	MR1	179284908	0.638000	0.27225	0.006000	0.13384	0.009000	0.06853	1.075000	0.30716	0.247000	0.21414	-0.344000	0.07964	ATC	MR1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000153029		0.567	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	111	0.00	0	C	NM_001531		181018285	181018285	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	0.040	G
MTA2	9219	genome.wustl.edu	37	11	62365556	62365556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:62365556G>A	ENST00000278823.2	-	6	819	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	144	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ATCTCGCCCTGATCAGCGAGA	0.498																																						dbGAP											0													147.0	141.0	143.0					11																	62365556		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.430C>T	11.37:g.62365556G>A	ENSP00000278823:p.Gln144*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DB1|Q9UQB5	Nonsense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.Q144*	ENST00000278823.2	37	c.430	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.494071	0.98319	.	.	ENSG00000149480	ENST00000278823	.	.	.	5.73	5.73	0.89815	.	0.056022	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4168	17.3963	0.87446	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000278823:Q144X	Q	-	1	0	MTA2	62122132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.188000	0.50958	2.722000	0.93159	0.655000	0.94253	CAG	MTA2	-	smart_BAH_dom,pfscan_BAH_dom	ENSG00000149480		0.498	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	106	0.00	0	G	NM_004739		62365556	62365556	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	nonsense	68	13.92	11	SNP	1.000	A
MUSK	4593	genome.wustl.edu	37	9	113547901	113547901	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:113547901C>T	ENST00000374448.4	+	13	1815	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	MUSK_ENST00000189978.5_Silent_p.L561L|MUSK_ENST00000416899.2_Silent_p.L553L|MUSK_ENST00000374438.1_Silent_p.L77L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	561					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCCGCTCCTTCTGAACCCCAA	0.493																																						dbGAP											0													195.0	187.0	190.0					9																	113547901		1945	4149	6094	-	-	-	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1681C>T	9.37:g.113547901C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L567	ENST00000374448.4	37	c.1699	CCDS48005.1	9																																																																																			MUSK	-	superfamily_Kinase-like_dom	ENSG00000030304		0.493	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		296	0.00	0	C			113547901	113547901	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	silent	178	12.32	25	SNP	1.000	T
MUTYH	4595	genome.wustl.edu	37	1	45796988	45796988	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:45796988G>C	ENST00000372098.3	-	14	1466	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D	MUTYH_ENST00000355498.2_Missense_Mutation_p.H420D|MUTYH_ENST00000372110.3_Missense_Mutation_p.H435D|MUTYH_ENST00000528013.2_Missense_Mutation_p.H434D|MUTYH_ENST00000448481.1_Missense_Mutation_p.H431D|MUTYH_ENST00000529984.1_Missense_Mutation_p.H115D|MUTYH_ENST00000488731.2_Missense_Mutation_p.H115D|MUTYH_ENST00000372100.5_Missense_Mutation_p.H431D|MUTYH_ENST00000450313.1_Missense_Mutation_p.H448D|MUTYH_ENST00000528332.2_Missense_Mutation_p.H129D|MUTYH_ENST00000354383.6_Missense_Mutation_p.H421D|MUTYH_ENST00000372115.3_Missense_Mutation_p.H434D|MUTYH_ENST00000456914.2_Missense_Mutation_p.H420D|MUTYH_ENST00000372104.1_Missense_Mutation_p.H420D|MUTYH_ENST00000531105.1_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	445	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGCTTGATGTGAGAGAAGGTG	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													dbGAP	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													87.0	84.0	85.0					1																	45796988		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1333C>G	1.37:g.45796988G>C	ENSP00000361170:p.His445Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.H448D	ENST00000372098.3	37	c.1342	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785657	0.70337	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55	5.16	5.16	0.70880	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.963;0.999;0.988;1.0;0.988;0.999;0.994;1.0	D;D;D;D;D;D;D;D	0.97110	0.991;1.0;0.986;1.0;0.986;1.0;0.978;0.999	D	0.99755	1.1019	10	0.87932	D	0	-20.8818	18.6575	0.91459	0.0:0.0:1.0:0.0	.	129;448;445;435;445;434;328;421	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;.;MUTYH_HUMAN;.;.;.	D	115;129;420;431;420;421;420;445;435;434;115;448;431	ENSP00000437093:H115D;ENSP00000433076:H129D;ENSP00000361176:H420D;ENSP00000409718:H431D;ENSP00000407590:H420D;ENSP00000346354:H421D;ENSP00000347685:H420D;ENSP00000361170:H445D;ENSP00000361182:H435D;ENSP00000361187:H434D;ENSP00000432330:H115D;ENSP00000408176:H448D;ENSP00000361172:H431D	ENSP00000346354:H421D	H	-	1	0	MUTYH	45569575	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.085000	0.94083	2.414000	0.81942	0.655000	0.94253	CAC	MUTYH	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000132781		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	131	0.00	0	G	NM_012222		45796988	45796988	-1	no_errors	ENST00000450313	ensembl	human	known	69_37n	missense	75	12.79	11	SNP	1.000	C
MXD1	4084	genome.wustl.edu	37	2	70164430	70164430	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:70164430C>T	ENST00000264444.2	+	5	642	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	MXD1_ENST00000540449.1_Missense_Mutation_p.H118Y	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	128					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGAGCAGCGACACCTGAAGAG	0.577																																						dbGAP											0													100.0	102.0	102.0					2																	70164430		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.382C>T	2.37:g.70164430C>T	ENSP00000264444:p.His128Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.H128Y	ENST00000264444.2	37	c.382	CCDS1896.1	2	.	.	.	.	.	.	.	.	.	.	C	7.972	0.749240	0.15710	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.43294	1.58;1.58;0.95	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (2);	0.045494	0.85682	D	0.000000	T	0.33847	0.0877	L	0.36672	1.1	0.58432	D	0.999998	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.14023	0.006;0.01;0.01	T	0.20438	-1.0275	10	0.06494	T	0.89	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	118;128;128	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	Y	96;128;118	ENSP00000410672:H96Y;ENSP00000264444:H128Y;ENSP00000443935:H118Y	ENSP00000264444:H128Y	H	+	1	0	MXD1	70017934	0.998000	0.40836	0.981000	0.43875	0.991000	0.79684	3.287000	0.51732	2.824000	0.97209	0.655000	0.94253	CAC	MXD1	-	superfamily_HLH_DNA-bd	ENSG00000059728		0.577	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD1	HGNC	protein_coding	OTTHUMT00000251845.3	82	0.00	0	C	NM_002357		70164430	70164430	+1	no_errors	ENST00000264444	ensembl	human	known	69_37n	missense	39	36.07	22	SNP	0.996	T
MYCBP2	23077	genome.wustl.edu	37	13	77672548	77672548	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:77672548G>A	ENST00000544440.2	-	56	8644	c.8627C>T	c.(8626-8628)tCt>tTt	p.S2876F	MYCBP2_ENST00000360084.5_Missense_Mutation_p.S399F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2914F|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2876F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTATTTTCAGATCCAGGGGA	0.458																																						dbGAP											0													59.0	61.0	60.0					13																	77672548		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8627C>T	13.37:g.77672548G>A	ENSP00000444596:p.Ser2876Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.S2914F	ENST00000544440.2	37	c.8741		13	.	.	.	.	.	.	.	.	.	.	G	12.07	1.829100	0.32329	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.49139	1.44;1.44;1.44;0.79	5.42	5.42	0.78866	.	0.293612	0.37136	N	0.002233	T	0.46229	0.1382	L	0.36672	1.1	0.20489	N	0.999896	P;B;B	0.49783	0.928;0.062;0.037	P;B;B	0.47299	0.543;0.059;0.026	T	0.47058	-0.9146	10	0.62326	D	0.03	.	14.796	0.69878	0.0:0.1439:0.8561:0.0	.	262;2876;2876	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	F	2876;2914;2876;399	ENSP00000349892:S2876F;ENSP00000384288:S2914F;ENSP00000444596:S2876F;ENSP00000353197:S399F	ENSP00000349892:S2876F	S	-	2	0	MYCBP2	76570549	1.000000	0.71417	0.912000	0.35992	0.927000	0.56198	5.312000	0.65792	2.553000	0.86117	0.591000	0.81541	TCT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.458	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	109	0.00	0	G	NM_015057		77672548	77672548	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	0.356	A
MYCBP2	23077	genome.wustl.edu	37	13	77673130	77673130	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:77673130G>C	ENST00000544440.2	-	56	8062	c.8045C>G	c.(8044-8046)tCa>tGa	p.S2682*	MYCBP2_ENST00000360084.5_Nonsense_Mutation_p.S205*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.S2720*|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.S2682*					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAAGATGTTGAGATGTTTCC	0.373																																						dbGAP											0													112.0	111.0	112.0					13																	77673130		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8045C>G	13.37:g.77673130G>C	ENSP00000444596:p.Ser2682*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.S2720*	ENST00000544440.2	37	c.8159		13	.	.	.	.	.	.	.	.	.	.	G	48	13.926939	0.99770	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	.	.	.	5.57	5.57	0.84162	.	0.238502	0.35525	N	0.003153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.7207	0.88350	0.0:0.0:1.0:0.0	.	.	.	.	X	2682;2720;2682;205	.	ENSP00000349892:S2682X	S	-	2	0	MYCBP2	76571131	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.285000	0.58989	2.628000	0.89032	0.563000	0.77884	TCA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	84	0.00	0	G	NM_015057		77673130	77673130	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	nonsense	38	19.15	9	SNP	0.883	C
MYH15	22989	genome.wustl.edu	37	3	108133098	108133098	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:108133098C>G	ENST00000273353.3	-	31	4242	c.4186G>C	c.(4186-4188)Gaa>Caa	p.E1396Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1396						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAAGTCTTCTGTTCTCTGG	0.463																																						dbGAP											0													168.0	162.0	164.0					3																	108133098		1976	4160	6136	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4186G>C	3.37:g.108133098C>G	ENSP00000273353:p.Glu1396Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1396Q	ENST00000273353.3	37	c.4186	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839180	0.71373	.	.	ENSG00000144821	ENST00000273353	D	0.82081	-1.57	4.93	4.93	0.64822	Myosin tail (1);	.	.	.	.	D	0.92974	0.7764	M	0.91920	3.255	0.58432	D	0.999995	D	0.67145	0.996	D	0.72625	0.978	D	0.94514	0.7721	9	0.87932	D	0	.	18.4932	0.90855	0.0:1.0:0.0:0.0	.	1396	Q9Y2K3	MYH15_HUMAN	Q	1396	ENSP00000273353:E1396Q	ENSP00000273353:E1396Q	E	-	1	0	MYH15	109615788	1.000000	0.71417	0.163000	0.22734	0.550000	0.35303	5.898000	0.69838	2.438000	0.82558	0.655000	0.94253	GAA	MYH15	-	pfam_Myosin_tail,superfamily_Lambda_DNA-bd_dom	ENSG00000144821		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	355	0.00	0	C	XM_036988		108133098	108133098	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	229	10.51	27	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108224632	108224632	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:108224632C>T	ENST00000273353.3	-	3	249	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	65						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTCAGCCTCGATATAAGCA	0.353																																						dbGAP											0													211.0	194.0	199.0					3																	108224632		1870	4127	5997	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.193G>A	3.37:g.108224632C>T	ENSP00000273353:p.Glu65Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E65K	ENST00000273353.3	37	c.193	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026921	0.02045	.	.	ENSG00000144821	ENST00000273353	T	0.77620	-1.11	3.41	2.54	0.30619	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.68632	0.3022	N	0.25380	0.74	0.36637	D	0.876608	P	0.39094	0.659	P	0.48654	0.585	T	0.65278	-0.6207	9	0.02654	T	1	.	11.4615	0.50213	0.0:0.9075:0.0:0.0925	.	65	Q9Y2K3	MYH15_HUMAN	K	65	ENSP00000273353:E65K	ENSP00000273353:E65K	E	-	1	0	MYH15	109707322	0.264000	0.24093	0.483000	0.27378	0.013000	0.08279	0.535000	0.23114	1.021000	0.39600	-0.224000	0.12420	GAG	MYH15	-	pfam_Myosin_N	ENSG00000144821		0.353	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	315	0.00	0	C	XM_036988		108224632	108224632	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	149	17.68	32	SNP	0.976	T
MYH7	4625	genome.wustl.edu	37	14	23883308	23883308	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:23883308C>T	ENST00000355349.3	-	38	5725	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1855					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)		CTGTCCTCCTCCGTCTGGGGG	0.602																																						dbGAP											0													51.0	48.0	49.0					14																	23883308		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5563G>A	14.37:g.23883308C>T	ENSP00000347507:p.Glu1855Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E1855K	ENST00000355349.3	37	c.5563	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227686	0.79576	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82984	-1.67	5.07	5.07	0.68467	Myosin tail (1);	.	.	.	.	D	0.89114	0.6623	H	0.94503	3.545	0.80722	D	1	P	0.35894	0.526	B	0.37731	0.257	D	0.91449	0.5180	9	0.87932	D	0	.	18.2298	0.89931	0.0:1.0:0.0:0.0	.	1855	P12883	MYH7_HUMAN	K	1855;1860	ENSP00000347507:E1855K	ENSP00000347507:E1855K	E	-	1	0	MYH7	22953148	1.000000	0.71417	0.967000	0.41034	0.735000	0.41995	7.471000	0.80985	2.653000	0.90120	0.561000	0.74099	GAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	112	0.00	0	C	NM_000257		23883308	23883308	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	1.000	T
MYO1D	4642	genome.wustl.edu	37	17	31091997	31091997	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:31091997C>T	ENST00000318217.5	-	8	1238	c.934G>A	c.(934-936)Gag>Aag	p.E312K	MYO1D_ENST00000583621.1_Missense_Mutation_p.E312K|MYO1D_ENST00000579584.1_Missense_Mutation_p.E312K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E224K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	312	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCTTTCTCAACCATATCT	0.448																																						dbGAP											0													164.0	144.0	151.0					17																	31091997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.934G>A	17.37:g.31091997C>T	ENSP00000324527:p.Glu312Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E312K	ENST00000318217.5	37	c.934	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562921	0.45694	.	.	ENSG00000176658	ENST00000318217	D	0.87729	-2.29	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.000000	0.39909	U	0.001225	D	0.84110	0.5400	N	0.20610	0.595	0.80722	D	1	P;P	0.34909	0.475;0.475	P;B	0.47251	0.542;0.403	T	0.78250	-0.2277	10	0.08381	T	0.77	.	17.8249	0.88662	0.0:1.0:0.0:0.0	.	223;312	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	312	ENSP00000324527:E312K	ENSP00000324527:E312K	E	-	1	0	MYO1D	28116110	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	GAG	MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000176658		0.448	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	283	0.35	1	C			31091997	31091997	-1	no_errors	ENST00000318217	ensembl	human	known	69_37n	missense	160	14.44	27	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2071151	2071151	+	Silent	SNP	T	T	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:2071151T>A	ENST00000262113.4	+	29	3621	c.3480T>A	c.(3478-3480)gtT>gtA	p.V1160V	MYOM2_ENST00000523438.1_Silent_p.V585V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1160	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAAACCGTTTTCAAATGGC	0.413																																						dbGAP											0													110.0	95.0	100.0					8																	2071151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3480T>A	8.37:g.2071151T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3Y2	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1160	ENST00000262113.4	37	c.3480	CCDS5957.1	8																																																																																			MYOM2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000036448		0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	148	0.00	0	T	NM_003970		2071151	2071151	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	silent	96	10.28	11	SNP	0.473	A
MYT1	4661	genome.wustl.edu	37	20	62871771	62871771	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:62871771C>G	ENST00000328439.1	+	23	3700	c.3336C>G	c.(3334-3336)atC>atG	p.I1112M	MYT1_ENST00000536311.1_Missense_Mutation_p.I1139M	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAGAGCATCAAGCAGGCTG	0.597																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0													105.0	78.0	87.0					20																	62871771		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3336C>G	20.37:g.62871771C>G	ENSP00000327465:p.Ile1112Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.I1139M	ENST00000328439.1	37	c.3417	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314031	0.40996	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.59083	0.32;0.29	5.42	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.76383	-0.2979	10	0.87932	D	0	-25.0807	9.9681	0.41736	0.1396:0.7887:0.0:0.0717	.	1139;1112	F5H7M8;Q01538	.;MYT1_HUMAN	M	1112;1139	ENSP00000327465:I1112M;ENSP00000442412:I1139M	ENSP00000327465:I1112M	I	+	3	3	MYT1	62342215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.097000	0.50251	1.379000	0.46325	0.655000	0.94253	ATC	MYT1	-	NULL	ENSG00000196132		0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	102	0.00	0	C	NM_004535		62871771	62871771	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	missense	66	25.00	22	SNP	1.000	G
NALCN	259232	genome.wustl.edu	37	13	101733934	101733934	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:101733934C>G	ENST00000251127.6	-	34	3910	c.3829G>C	c.(3829-3831)Gat>Cat	p.D1277H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1277					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAGGAGATCGTATCGGTTT	0.448																																						dbGAP											0													188.0	147.0	161.0					13																	101733934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3829G>C	13.37:g.101733934C>G	ENSP00000251127:p.Asp1277His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D1277H	ENST00000251127.6	37	c.3829	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534824	0.64972	.	.	ENSG00000102452	ENST00000251127	D	0.99394	-5.82	5.62	5.62	0.85841	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97943	1.0327	10	0.87932	D	0	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	1277	Q8IZF0	NALCN_HUMAN	H	1277	ENSP00000251127:D1277H	ENSP00000251127:D1277H	D	-	1	0	NALCN	100531935	1.000000	0.71417	0.469000	0.27204	0.151000	0.21798	7.479000	0.81095	2.634000	0.89283	0.655000	0.94253	GAT	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	171	0.00	0	C	NM_052867		101733934	101733934	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	96	10.28	11	SNP	1.000	G
NCAPD2	9918	genome.wustl.edu	37	12	6640219	6640219	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:6640219C>T	ENST00000315579.5	+	31	4896	c.4097C>T	c.(4096-4098)tCa>tTa	p.S1366L	RP5-940J5.3_ENST00000537921.1_RNA|GAPDH_ENST00000229239.5_5'Flank|NCAPD2_ENST00000545962.1_Missense_Mutation_p.S1321L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1366					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTTGTCTTCTCAAGTGATGAG	0.552																																						dbGAP											0													55.0	62.0	60.0					12																	6640219		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.4097C>T	12.37:g.6640219C>T	ENSP00000325017:p.Ser1366Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.S1366L	ENST00000315579.5	37	c.4097	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199967	0.58126	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.20200	2.37;2.09	5.1	4.2	0.49525	.	0.327243	0.30686	N	0.009100	T	0.17450	0.0419	L	0.36672	1.1	0.32569	N	0.53008	B;B	0.18166	0.026;0.015	B;B	0.19946	0.027;0.007	T	0.10497	-1.0627	10	0.38643	T	0.18	-7.0371	11.51	0.50488	0.0:0.9164:0.0:0.0836	.	1321;1366	F5GZJ1;Q15021	.;CND1_HUMAN	L	1366;1321	ENSP00000325017:S1366L;ENSP00000444417:S1321L	ENSP00000325017:S1366L	S	+	2	0	NCAPD2	6510480	0.967000	0.33354	0.949000	0.38748	0.975000	0.68041	2.230000	0.42999	1.336000	0.45506	0.561000	0.74099	TCA	NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	78	0.00	0	C	NM_014865		6640219	6640219	+1	no_errors	ENST00000315579	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	0.986	T
NCOA1	8648	genome.wustl.edu	37	2	24952396	24952396	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:24952396G>C	ENST00000406961.1	+	17	3565	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	NCOA1_ENST00000405141.1_Missense_Mutation_p.E971D|NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	971	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTATCAGAGAGATTTCCAC	0.403			T	PAX3	alveolar rhadomyosarcoma																																	dbGAP		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													125.0	114.0	118.0					2																	24952396		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2913G>C	2.37:g.24952396G>C	ENSP00000385216:p.Glu971Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.E971D	ENST00000406961.1	37	c.2913	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	6.298	0.423024	0.11928	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02085	4.57;4.57;4.46;4.57;4.57;4.57;4.57	4.98	3.15	0.36227	Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.267444	0.42821	N	0.000658	T	0.00936	0.0031	N	0.01576	-0.805	0.39933	D	0.974317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.55903	-0.8067	10	0.28530	T	0.3	.	5.0897	0.14702	0.0794:0.1597:0.6173:0.1436	.	971;971;971;820	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	971;971;820;971;971;971;971	ENSP00000385216:E971D;ENSP00000385097:E971D;ENSP00000385195:E820D;ENSP00000444039:E971D;ENSP00000320940:E971D;ENSP00000288599:E971D;ENSP00000379197:E971D	ENSP00000288599:E971D	E	+	3	2	NCOA1	24805900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.623000	0.24447	0.792000	0.33850	0.585000	0.79938	GAG	NCOA1	-	pfam_Nuc_rcpt_coact_Ncoa-typ,pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.403	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	181	0.00	0	G	NM_147223		24952396	24952396	+1	no_errors	ENST00000348332	ensembl	human	known	69_37n	missense	89	16.82	18	SNP	1.000	C
NCOA5	57727	genome.wustl.edu	37	20	44691046	44691046	+	Missense_Mutation	SNP	C	C	G	rs112917877		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:44691046C>G	ENST00000290231.6	-	8	1797	c.1633G>C	c.(1633-1635)Gat>Cat	p.D545H		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	545	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ATCAGGGTATCCAGAGCCTTC	0.572																																						dbGAP											0													61.0	53.0	56.0					20																	44691046		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1633G>C	20.37:g.44691046C>G	ENSP00000290231:p.Asp545His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.D545H	ENST00000290231.6	37	c.1633	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974392	0.74246	.	.	ENSG00000124160	ENST00000290231	T	0.35421	1.31	5.65	5.65	0.86999	.	0.209871	0.50627	D	0.000107	T	0.55146	0.1902	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53380	-0.8447	10	0.87932	D	0	-9.0159	18.891	0.92403	0.0:1.0:0.0:0.0	.	545	Q9HCD5	NCOA5_HUMAN	H	545	ENSP00000290231:D545H	ENSP00000290231:D545H	D	-	1	0	NCOA5	44124453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.286000	0.78671	2.941000	0.99782	0.655000	0.94253	GAT	NCOA5	-	NULL	ENSG00000124160		0.572	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	87	0.00	0	C	NM_020967		44691046	44691046	-1	no_errors	ENST00000290231	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	G
MYH11	4629	genome.wustl.edu	37	16	15817991	15817991	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:15817991G>C	ENST00000300036.5	-	31	4475				MYH11_ENST00000452625.2_Intron|MYH11_ENST00000396324.3_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000571896.1_3'UTR|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCATGGCCAGAGTGGGGGAC	0.582			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													70.0	71.0	71.0					16																	15817991		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4365+26C>G	16.37:g.15817991G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	RNA	SNP	-	NULL	ENST00000300036.5	37	NULL	CCDS10565.1	16																																																																																			NDE1	-	-	ENSG00000072864		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDE1	HGNC	protein_coding	OTTHUMT00000252192.2	81	0.00	0	G	NM_001040113		15817991	15817991	+1	no_errors	ENST00000571896	ensembl	human	known	69_37n	rna	45	11.76	6	SNP	0.000	C
NDFIP2	54602	genome.wustl.edu	37	13	80055606	80055606	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:80055606C>A	ENST00000218652.7	+	1	320	c.268C>A	c.(268-270)Ccc>Acc	p.P90T	NDFIP2-AS1_ENST00000457171.1_RNA	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	90					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GAAGCCGGATCCCGAGCCGGG	0.721																																						dbGAP											0													13.0	19.0	17.0					13																	80055606		2161	4241	6402	-	-	-	SO:0001583	missense	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.268C>A	13.37:g.80055606C>A	ENSP00000218652:p.Pro90Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.P90T	ENST00000218652.7	37	c.268	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500787	0.26861	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.34072	1.38;1.42	5.16	1.59	0.23543	.	1.017060	0.07873	N	0.968165	T	0.31295	0.0792	L	0.44542	1.39	0.20196	N	0.999924	B	0.24186	0.099	B	0.27608	0.081	T	0.34950	-0.9808	10	0.51188	T	0.08	0.2709	6.648	0.22947	0.0:0.6085:0.0:0.3915	.	90	Q9NV92	NFIP2_HUMAN	T	90;7	ENSP00000218652:P90T;ENSP00000419200:P7T	ENSP00000218652:P90T	P	+	1	0	NDFIP2	78953607	0.996000	0.38824	0.184000	0.23157	0.296000	0.27459	1.086000	0.30853	0.336000	0.23639	0.561000	0.74099	CCC	NDFIP2	-	NULL	ENSG00000102471		0.721	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	17	0.00	0	C			80055606	80055606	+1	no_errors	ENST00000218652	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.295	A
NDRG1	10397	genome.wustl.edu	37	8	134271459	134271459	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:134271459G>T	ENST00000414097.2	-	6	1208	c.341C>A	c.(340-342)tCc>tAc	p.S114Y	NDRG1_ENST00000537882.1_Missense_Mutation_p.S33Y|NDRG1_ENST00000522476.1_Missense_Mutation_p.S48Y|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.S114Y|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	114					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTGATCCATGGAGGGGTACAT	0.532			T	ERG	prostate																																	dbGAP		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													116.0	107.0	110.0					8																	134271459		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.341C>A	8.37:g.134271459G>T	ENSP00000404854:p.Ser114Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	pfam_Ndr	p.S114Y	ENST00000414097.2	37	c.341	CCDS34945.1	8	.	.	.	.	.	.	.	.	.	.	G	30	5.056298	0.93793	.	.	ENSG00000104419	ENST00000323851;ENST00000414097;ENST00000537882;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544	T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67749	-0.5590	10	0.87932	D	0	-31.6063	17.5858	0.87981	0.0:0.0:1.0:0.0	.	114	Q92597	NDRG1_HUMAN	Y	114;114;33;48;131;48;114;114;114;125;114	ENSP00000319977:S114Y;ENSP00000404854:S114Y;ENSP00000437443:S33Y;ENSP00000427894:S48Y;ENSP00000428345:S131Y;ENSP00000428802:S48Y;ENSP00000429994:S114Y;ENSP00000429272:S114Y;ENSP00000428384:S114Y;ENSP00000429840:S125Y;ENSP00000429524:S114Y	ENSP00000319977:S114Y	S	-	2	0	NDRG1	134340641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.473000	0.97714	2.481000	0.83766	0.561000	0.74099	TCC	NDRG1	-	pfam_Ndr	ENSG00000104419		0.532	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	69	0.00	0	G			134271459	134271459	-1	no_errors	ENST00000323851	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	T
NDRG3	57446	genome.wustl.edu	37	20	35293685	35293685	+	Missense_Mutation	SNP	C	C	T	rs530636370	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:35293685C>T	ENST00000349004.1	-	11	793	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	NDRG3_ENST00000373773.3_Missense_Mutation_p.E143K|NDRG3_ENST00000359675.2_Missense_Mutation_p.E226K|NDRG3_ENST00000373803.2_Missense_Mutation_p.E238K|NDRG3_ENST00000540765.1_Missense_Mutation_p.E134K	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	238					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATGGGTCTTTCGATCTCCAGG	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		21674	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													211.0	215.0	214.0					20																	35293685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.712G>A	20.37:g.35293685C>T	ENSP00000345292:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.E238K	ENST00000349004.1	37	c.712	CCDS13285.1	20	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202268	0.38905	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.0	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	M	0.88310	2.945	0.80722	D	1	B;P;B	0.37233	0.341;0.588;0.37	B;B;B	0.31390	0.063;0.129;0.055	T	0.10337	-1.0634	10	0.38643	T	0.18	.	11.647	0.51267	0.0:0.9133:0.0:0.0867	.	143;226;238	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	K	238;238;226;143;134	ENSP00000345292:E238K;ENSP00000362909:E238K;ENSP00000352703:E226K;ENSP00000362878:E143K;ENSP00000442813:E134K	ENSP00000345292:E238K	E	-	1	0	NDRG3	34727099	1.000000	0.71417	0.999000	0.59377	0.187000	0.23431	5.174000	0.65015	1.473000	0.48159	-0.157000	0.13467	GAA	NDRG3	-	pfam_Ndr,pfam_AB_hydrolase_1	ENSG00000101079		0.383	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	379	0.00	0	C			35293685	35293685	-1	no_errors	ENST00000349004	ensembl	human	known	69_37n	missense	200	12.99	30	SNP	1.000	T
NDRG4	65009	genome.wustl.edu	37	16	58537743	58537743	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:58537743G>A	ENST00000570248.1	+	2	169	c.63G>A	c.(61-63)gtG>gtA	p.V21V	NDRG4_ENST00000562999.1_Silent_p.V21V|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000258187.5_Silent_p.V53V|NDRG4_ENST00000356752.4_Silent_p.V51V|NDRG4_ENST00000394279.2_Silent_p.V53V|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Silent_p.V39V|NDRG4_ENST00000563799.1_Silent_p.V21V|NDRG4_ENST00000394282.4_Silent_p.V73V|NDRG4_ENST00000566192.1_Silent_p.V21V	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	21					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGCATGTAGTGATCCGGGGCT	0.627																																						dbGAP											0													93.0	78.0	83.0					16																	58537743		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.63G>A	16.37:g.58537743G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	pfam_Ndr	p.D3N	ENST00000570248.1	37	c.7	CCDS58466.1	16																																																																																			NDRG4	-	pfam_Ndr	ENSG00000103034		0.627	NDRG4-009	KNOWN	basic|CCDS	protein_coding	NDRG4	HGNC	protein_coding	OTTHUMT00000422671.2	66	0.00	0	G			58537743	58537743	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000561738	ensembl	human	putative	69_37n	missense	36	16.28	7	SNP	1.000	A
NDST1	3340	genome.wustl.edu	37	5	149927847	149927847	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:149927847C>G	ENST00000261797.6	+	12	2715	c.2213C>G	c.(2212-2214)tCt>tGt	p.S738C	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	738	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGCCGGCTCTGACGCATCC	0.622																																						dbGAP											0													92.0	63.0	73.0					5																	149927847		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2213C>G	5.37:g.149927847C>G	ENSP00000261797:p.Ser738Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.S738C	ENST00000261797.6	37	c.2213	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690201	0.29962	.	.	ENSG00000070614	ENST00000261797	T	0.54866	0.55	4.91	4.91	0.64330	Sulfotransferase domain (1);	0.193703	0.56097	D	0.000033	T	0.61515	0.2353	L	0.61218	1.895	0.28237	N	0.925877	B	0.27932	0.194	B	0.40410	0.328	T	0.61695	-0.7010	10	0.56958	D	0.05	.	18.4857	0.90828	0.0:1.0:0.0:0.0	.	738	P52848	NDST1_HUMAN	C	738	ENSP00000261797:S738C	ENSP00000261797:S738C	S	+	2	0	NDST1	149908040	0.040000	0.19996	0.015000	0.15790	0.037000	0.13140	2.092000	0.41700	2.434000	0.82447	0.655000	0.94253	TCT	NDST1	-	pfam_Sulfotransferase_dom	ENSG00000070614		0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	58	0.00	0	C	NM_001543		149927847	149927847	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	missense	31	15.79	6	SNP	0.994	G
NEB	4703	genome.wustl.edu	37	2	152352825	152352825	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:152352825C>G	ENST00000172853.10	-	140	19030	c.18883G>C	c.(18883-18885)Gag>Cag	p.E6295Q	NEB_ENST00000409198.1_Missense_Mutation_p.E6295Q|NEB_ENST00000397345.3_Missense_Mutation_p.E8151Q|NEB_ENST00000509223.2_Missense_Mutation_p.E95Q|NEB_ENST00000603639.1_Missense_Mutation_p.E8151Q|NEB_ENST00000427231.2_Missense_Mutation_p.E8151Q|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8151Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.E126Q			P20929	NEBU_HUMAN	nebulin	6295					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGACTCGCTCCATCTCGGGA	0.363																																						dbGAP											0													92.0	77.0	82.0					2																	152352825		1845	4091	5936	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18883G>C	2.37:g.152352825C>G	ENSP00000172853:p.Glu6295Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.E8151Q	ENST00000172853.10	37	c.24451		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.61|18.61|18.61	3.660075|3.660075|3.660075	0.67586|0.67586|0.67586	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223;ENST00000424585|ENST00000421461|ENST00000397337	T;T;T;T;T;T;T;T|.|.	0.43294|.|.	0.95;0.95;0.95;0.95;0.95;0.95;0.95;2.94|.|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.58991|0.58991|0.58991	0.2161|0.2161|0.2161	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.40913|0.40913|0.40913	D|D|D	0.984244|0.984244|0.984244	B;B;B;D;D;D|.|.	0.67145|.|.	0.339;0.044;0.001;0.992;0.969;0.996|.|.	B;B;B;D;D;D|.|.	0.78314|.|.	0.426;0.038;0.006;0.938;0.968;0.991|.|.	T|T|T	0.55835|0.55835|0.55835	-0.8078|-0.8078|-0.8078	9|5|5	0.38643|.|.	T|.|.	0.18|.|.	.|.|.	18.2919|18.2919|18.2919	0.90133|0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	95;126;95;6295;2695;8151|.|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.|.	.;.;.;NEBU_HUMAN;.;.|.|.	Q|A|C	6295;8151;8151;2695;6295;126;95;254|296|284	ENSP00000386259:E6295Q;ENSP00000380505:E8151Q;ENSP00000416578:E8151Q;ENSP00000410961:E2695Q;ENSP00000172853:E6295Q;ENSP00000380497:E126Q;ENSP00000427083:E95Q;ENSP00000404876:E254Q|.|.	ENSP00000172853:E6295Q|.|.	E|G|W	-|-|-	1|2|3	0|0|0	NEB|NEB|NEB	152061071|152061071|152061071	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.921000|0.921000|0.921000	0.55340|0.55340|0.55340	6.995000|6.995000|6.995000	0.76257|0.76257|0.76257	2.482000|2.482000|2.482000	0.83794|0.83794|0.83794	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif	ENSG00000183091		0.363	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		505	0.00	0	C	NM_004543		152352825	152352825	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	266	12.46	38	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152472569	152472569	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:152472569G>A	ENST00000172853.10	-	72	10654	c.10507C>T	c.(10507-10509)Ctg>Ttg	p.L3503L	NEB_ENST00000409198.1_Silent_p.L3503L|NEB_ENST00000397345.3_Silent_p.L3746L|NEB_ENST00000603639.1_Silent_p.L3746L|NEB_ENST00000427231.2_Silent_p.L3746L|NEB_ENST00000604864.1_Silent_p.L3746L			P20929	NEBU_HUMAN	nebulin	3503					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGCATCCAGACGCAAGTCA	0.383																																						dbGAP											0													72.0	72.0	72.0					2																	152472569		1854	4092	5946	-	-	-	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10507C>T	2.37:g.152472569G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.L3746	ENST00000172853.10	37	c.11236		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		171	0.00	0	G	NM_004543		152472569	152472569	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	83	16.83	17	SNP	0.000	A
NEDD1	121441	genome.wustl.edu	37	12	97339470	97339470	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:97339470G>C	ENST00000266742.4	+	14	1993		c.e14-1		NEDD1_ENST00000411739.2_Splice_Site|NEDD1_ENST00000429527.2_Splice_Site|NEDD1_ENST00000457368.2_Splice_Site|NEDD1_ENST00000557644.1_Splice_Site	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CTTTATTTTAGATCCAAAGAT	0.368																																						dbGAP											0													53.0	53.0	53.0					12																	97339470		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1655-1G>C	12.37:g.97339470G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZN0|B4E145|G3V3F1|Q8NA30	Splice_Site	SNP	-	e13-1	ENST00000266742.4	37	c.1676-1	CCDS9063.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069438	0.76301	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD1	95863601	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.569000	0.73992	2.780000	0.95670	0.655000	0.94253	.	NEDD1	-	-	ENSG00000139350		0.368	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	120	0.00	0	G		Intron	97339470	97339470	+1	no_errors	ENST00000557644	ensembl	human	known	69_37n	splice_site	57	14.93	10	SNP	1.000	C
NEK9	91754	genome.wustl.edu	37	14	75576448	75576448	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:75576448G>A	ENST00000238616.5	-	10	1280	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	374					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.V374V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCCCTGCACAGACCTGCCGGG	0.498																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											91.0	75.0	80.0					14																	75576448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1122C>T	14.37:g.75576448G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V374	ENST00000238616.5	37	c.1122	CCDS9839.1	14																																																																																			NEK9	-	superfamily_Reg_csome_cond/b-lactamase_inh	ENSG00000119638		0.498	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	98	0.00	0	G	NM_033116		75576448	75576448	-1	no_errors	ENST00000238616	ensembl	human	known	69_37n	silent	61	11.59	8	SNP	1.000	A
NFATC3	4775	genome.wustl.edu	37	16	68260336	68260336	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:68260336C>G	ENST00000346183.3	+	10	3214	c.3190C>G	c.(3190-3192)Cct>Gct	p.P1064A	NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.11_ENST00000571197.1_RNA|NFATC3_ENST00000349223.5_3'UTR|RP11-96D1.10_ENST00000571975.1_RNA|NFATC3_ENST00000329524.4_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1064					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTCCCGAGTCCTGAGTCCCT	0.507																																						dbGAP											0													100.0	99.0	99.0					16																	68260336		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3190C>G	16.37:g.68260336C>G	ENSP00000300659:p.Pro1064Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P1064A	ENST00000346183.3	37	c.3190	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	6.039	0.375469	0.11409	.	.	ENSG00000072736	ENST00000346183	T	0.09163	3.01	5.85	2.85	0.33270	.	0.000000	0.64402	D	0.000001	T	0.09598	0.0236	L	0.50333	1.59	0.31438	N	0.6723	B	0.30406	0.278	B	0.27887	0.084	T	0.08269	-1.0730	10	0.66056	D	0.02	-2.2278	5.6771	0.17755	0.1375:0.6503:0.0:0.2122	.	1064	Q12968	NFAC3_HUMAN	A	1064	ENSP00000300659:P1064A	ENSP00000300659:P1064A	P	+	1	0	NFATC3	66817837	0.977000	0.34250	0.149000	0.22428	0.021000	0.10359	2.137000	0.42130	0.384000	0.24942	-0.905000	0.02835	CCT	NFATC3	-	NULL	ENSG00000072736		0.507	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	117	0.00	0	C	NM_004555		68260336	68260336	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.234	G
NFKBIA	4792	genome.wustl.edu	37	14	35871602	35871602	+	Nonsense_Mutation	SNP	C	C	A	rs116801398		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:35871602C>A	ENST00000216797.5	-	5	1005	c.904G>T	c.(904-906)Gag>Tag	p.E302*	NFKBIA_ENST00000557100.1_5'Flank|NFKBIA_ENST00000557389.1_Nonsense_Mutation_p.E212*|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.E259*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	302					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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 DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	AGACTCACCTCGTCCTCTGTG	0.542																																						dbGAP											0													78.0	86.0	83.0					14																	35871602		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.904G>T	14.37:g.35871602C>A	ENSP00000216797:p.Glu302*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8L6	Nonsense_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.E302*	ENST00000216797.5	37	c.904	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	40	7.965553	0.98585	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-2.234	20.2822	0.98520	0.0:1.0:0.0:0.0	.	.	.	.	X	302;259;212	.	ENSP00000216797:E302X	E	-	1	0	NFKBIA	34941353	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	5.174000	0.65015	2.806000	0.96561	0.655000	0.94253	GAG	NFKBIA	-	NULL	ENSG00000100906		0.542	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	104	0.00	0	C	NM_020529		35871602	35871602	-1	no_errors	ENST00000216797	ensembl	human	known	69_37n	nonsense	66	12.00	9	SNP	1.000	A
NFKBIA	4792	genome.wustl.edu	37	14	35872475	35872475	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:35872475C>T	ENST00000216797.5	-	3	529	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.R53Q|NFKBIA_ENST00000557140.1_Missense_Mutation_p.R143Q	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	143					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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 DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R143fs*11(2)		breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GGTATTTCCTCGAAAGTCTCG	0.592																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)											112.0	116.0	114.0					14																	35872475		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.428G>A	14.37:g.35872475C>T	ENSP00000216797:p.Arg143Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8L6	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.R143Q	ENST00000216797.5	37	c.428	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798093	0.50208	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.64260	-0.09;-0.09;-0.09	6.06	3.91	0.45181	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.44138	0.1279	L	0.27053	0.805	0.37801	D	0.927712	B;B	0.26876	0.119;0.162	B;B	0.13407	0.009;0.009	T	0.40136	-0.9579	9	0.13108	T	0.6	-5.7378	12.2967	0.54852	0.1223:0.8075:0.0:0.0702	.	143;143	G3V3I4;P25963	.;IKBA_HUMAN	Q	143;143;53	ENSP00000216797:R143Q;ENSP00000451257:R143Q;ENSP00000450514:R53Q	ENSP00000216797:R143Q	R	-	2	0	NFKBIA	34942226	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.203000	0.42752	1.556000	0.49512	-0.181000	0.13052	CGA	NFKBIA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100906		0.592	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	155	0.00	0	C	NM_020529		35872475	35872475	-1	no_errors	ENST00000216797	ensembl	human	known	69_37n	missense	80	21.57	22	SNP	1.000	T
NID1	4811	genome.wustl.edu	37	1	236201532	236201532	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:236201532G>A	ENST00000264187.6	-	5	1239	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	NID1_ENST00000366595.3_Missense_Mutation_p.S386F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	386	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGTCTGGCGGGAATCCGTGTT	0.552																																						dbGAP											0													114.0	109.0	111.0					1																	236201532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1157C>T	1.37:g.236201532G>A	ENSP00000264187:p.Ser386Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S386F	ENST00000264187.6	37	c.1157	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460199	0.63401	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.87650	-2.28;-2.28	5.4	5.4	0.78164	Epidermal growth factor-like, type 3 (1);	0.401827	0.26746	N	0.022704	D	0.84538	0.5494	L	0.39898	1.24	0.32094	N	0.591518	D;P	0.58268	0.982;0.713	P;P	0.51355	0.667;0.635	D	0.86123	0.1570	10	0.56958	D	0.05	.	6.2427	0.20800	0.1198:0.1859:0.6943:0.0	.	386;386	P14543-2;P14543	.;NID1_HUMAN	F	386	ENSP00000264187:S386F;ENSP00000355554:S386F	ENSP00000264187:S386F	S	-	2	0	NID1	234268155	0.986000	0.35501	0.983000	0.44433	0.856000	0.48823	1.286000	0.33273	2.537000	0.85549	0.650000	0.86243	TCC	NID1	-	smart_EGF-like_Ca-bd	ENSG00000116962		0.552	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	123	0.00	0	G	NM_002508		236201532	236201532	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	0.935	A
NLGN2	57555	genome.wustl.edu	37	17	7320450	7320450	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:7320450G>A	ENST00000302926.2	+	7	1913	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	NLGN2_ENST00000575301.1_Missense_Mutation_p.E614K|RP11-104H15.7_ENST00000575310.1_RNA	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	614					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCTGCACACGGAGCTCTTCAC	0.716																																						dbGAP											0													89.0	66.0	74.0					17																	7320450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1840G>A	17.37:g.7320450G>A	ENSP00000305288:p.Glu614Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E614K	ENST00000302926.2	37	c.1840	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725927	0.69074	.	.	ENSG00000169992	ENST00000302926	T	0.66280	-0.2	4.61	4.61	0.57282	.	0.686384	0.14341	N	0.325704	T	0.52933	0.1765	L	0.36672	1.1	0.58432	D	0.999997	B	0.24533	0.105	B	0.20184	0.028	T	0.46247	-0.9205	10	0.28530	T	0.3	.	15.317	0.74089	0.0:0.0:1.0:0.0	.	614	Q8NFZ4	NLGN2_HUMAN	K	614	ENSP00000305288:E614K	ENSP00000305288:E614K	E	+	1	0	NLGN2	7261174	1.000000	0.71417	0.938000	0.37757	0.971000	0.66376	4.464000	0.60134	2.550000	0.86006	0.561000	0.74099	GAG	NLGN2	-	NULL	ENSG00000169992		0.716	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	44	0.00	0	G	NM_020795		7320450	7320450	+1	no_errors	ENST00000302926	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.996	A
NNT	23530	genome.wustl.edu	37	5	43624200	43624200	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:43624200A>G	ENST00000264663.5	+	6	975	c.754A>G	c.(754-756)Att>Gtt	p.I252V	NNT_ENST00000512996.2_Missense_Mutation_p.I121V|NNT_ENST00000344920.4_Missense_Mutation_p.I252V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	252					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GATGGGTGCAATTGTTCGAGG	0.433																																						dbGAP											0													329.0	301.0	310.0					5																	43624200		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.754A>G	5.37:g.43624200A>G	ENSP00000264663:p.Ile252Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.I252V	ENST00000264663.5	37	c.754	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287249	0.23478	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.82167	-1.58;-1.58;-1.58	5.78	3.45	0.39498	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.147754	0.64402	N	0.000010	T	0.68495	0.3007	N	0.21583	0.68	0.38314	D	0.943334	B	0.02656	0.0	B	0.12156	0.007	T	0.61734	-0.7002	10	0.30078	T	0.28	-16.0411	6.6575	0.22996	0.7129:0.0:0.2871:0.0	.	252	Q13423	NNTM_HUMAN	V	252;252;121	ENSP00000264663:I252V;ENSP00000343873:I252V;ENSP00000426343:I121V	ENSP00000264663:I252V	I	+	1	0	NNT	43659957	0.997000	0.39634	0.879000	0.34478	0.542000	0.35054	3.374000	0.52402	1.031000	0.39867	0.459000	0.35465	ATT	NNT	-	pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a	ENSG00000112992		0.433	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	550	0.00	0	A	NM_182977		43624200	43624200	+1	no_errors	ENST00000264663	ensembl	human	known	69_37n	missense	289	22.93	86	SNP	0.936	G
NOS1AP	9722	genome.wustl.edu	37	1	162335292	162335292	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:162335292C>T	ENST00000361897.5	+	9	1440	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	NOS1AP_ENST00000530878.1_Silent_p.L341L|RP11-565P22.6_ENST00000431696.1_Silent_p.L32L|NOS1AP_ENST00000493151.1_Silent_p.L51L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	346					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGACATGCTCCAGCACATCT	0.607																																						dbGAP											0													69.0	60.0	63.0					1																	162335292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1038C>T	1.37:g.162335292C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.L346	ENST00000361897.5	37	c.1038	CCDS1237.1	1																																																																																			NOS1AP	-	NULL	ENSG00000198929		0.607	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	90	0.00	0	C	NM_014697		162335292	162335292	+1	no_errors	ENST00000361897	ensembl	human	known	69_37n	silent	46	25.81	16	SNP	0.917	T
NPC1	4864	genome.wustl.edu	37	18	21136398	21136398	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:21136398C>G	ENST00000269228.5	-	8	1689	c.1135G>C	c.(1135-1137)Gac>Cac	p.D379H	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.D129H	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	379					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACCAGAGGTCAACTGGATTG	0.567																																						dbGAP											0													52.0	53.0	53.0					18																	21136398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1135G>C	18.37:g.21136398C>G	ENSP00000269228:p.Asp379His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.D379H	ENST00000269228.5	37	c.1135	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221759	0.58560	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.89939	-2.59;-2.59	5.77	4.9	0.64082	.	0.245206	0.48286	D	0.000190	D	0.91352	0.7272	L	0.58101	1.795	0.48571	D	0.999676	P;P	0.36990	0.577;0.577	P;P	0.48840	0.592;0.572	D	0.91712	0.5382	10	0.72032	D	0.01	-18.5033	16.8987	0.86107	0.0:0.8718:0.1282:0.0	.	390;379	Q59GR1;O15118	.;NPC1_HUMAN	H	379;129;224	ENSP00000269228:D379H;ENSP00000408606:D129H	ENSP00000269228:D379H	D	-	1	0	NPC1	19390396	0.999000	0.42202	0.831000	0.32960	0.084000	0.17831	4.013000	0.57138	1.424000	0.47217	0.655000	0.94253	GAC	NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.567	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	130	0.00	0	C	NM_000271		21136398	21136398	-1	no_errors	ENST00000269228	ensembl	human	known	69_37n	missense	94	10.48	11	SNP	1.000	G
NPVF	64111	genome.wustl.edu	37	7	25266495	25266495	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:25266495G>C	ENST00000222674.2	-	2	335	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	97					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTTCTTCTTGAACGTTCCTC	0.468																																						dbGAP											0													182.0	178.0	180.0					7																	25266495		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.289C>G	7.37:g.25266495G>C	ENSP00000222674:p.Gln97Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.Q97E	ENST00000222674.2	37	c.289	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	G	0	-2.858098	0.00065	.	.	ENSG00000105954	ENST00000222674	T	0.21191	2.02	5.67	-0.259	0.12971	.	0.882545	0.09804	N	0.753656	T	0.03477	0.0100	N	0.00179	-1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41698	-0.9494	10	0.02654	T	1	-3.2572	6.315	0.21186	0.0:0.388:0.3192:0.2928	.	97	Q9HCQ7	RFRP_HUMAN	E	97	ENSP00000222674:Q97E	ENSP00000222674:Q97E	Q	-	1	0	NPVF	25233020	0.007000	0.16637	0.016000	0.15963	0.002000	0.02628	-0.028000	0.12350	0.016000	0.14998	-0.802000	0.03209	CAA	NPVF	-	NULL	ENSG00000105954		0.468	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	448	0.00	0	G	NM_022150		25266495	25266495	-1	no_errors	ENST00000222674	ensembl	human	known	69_37n	missense	257	11.68	34	SNP	0.020	C
NRG2	9542	genome.wustl.edu	37	5	139267074	139267074	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:139267074C>G	ENST00000361474.1	-	2	947	c.723G>C	c.(721-723)aaG>aaC	p.K241N	NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000340391.3_Missense_Mutation_p.K38N|NRG2_ENST00000358522.3_Missense_Mutation_p.K241N|NRG2_ENST00000541337.1_Missense_Mutation_p.K241N|NRG2_ENST00000394770.1_Missense_Mutation_p.K241N|NRG2_ENST00000289422.7_Missense_Mutation_p.K241N|NRG2_ENST00000545385.1_Missense_Mutation_p.K241N|NRG2_ENST00000289409.4_Missense_Mutation_p.K241N	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	241	Ig-like C2-type.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTTCATCTTCTTCAACT	0.582																																						dbGAP											0													78.0	68.0	71.0					5																	139267074		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.723G>C	5.37:g.139267074C>G	ENSP00000354910:p.Lys241Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.K241N	ENST00000361474.1	37	c.723	CCDS4217.1	5	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229539	0.58777	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.09	4.01	0.46588	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283692	0.34386	N	0.004002	T	0.55737	0.1939	N	0.05554	-0.025	0.38118	D	0.937778	P;P;P;P	0.48640	0.864;0.913;0.672;0.894	P;P;B;P	0.55871	0.514;0.786;0.294;0.681	T	0.59016	-0.7533	10	0.39692	T	0.17	-15.7959	7.9611	0.30072	0.0:0.8237:0.0:0.1763	.	241;241;241;241	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	N	241;241;241;241;241;241;38;241;241;149;241	ENSP00000444235:K241N;ENSP00000289422:K241N;ENSP00000354910:K241N;ENSP00000438753:K241N;ENSP00000378251:K241N;ENSP00000342660:K38N;ENSP00000289409:K241N;ENSP00000351323:K241N;ENSP00000367483:K241N	ENSP00000289409:K241N	K	-	3	2	NRG2	139247258	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.943000	0.29030	2.366000	0.80165	0.462000	0.41574	AAG	NRG2	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000158458		0.582	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	211	0.00	0	C	NM_013982		139267074	139267074	-1	no_errors	ENST00000545385	ensembl	human	known	69_37n	missense	121	10.37	14	SNP	1.000	G
NSD1	64324	genome.wustl.edu	37	5	176709505	176709505	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:176709505G>A	ENST00000439151.2	+	19	5977	c.5932G>A	c.(5932-5934)Gaa>Aaa	p.E1978K	NSD1_ENST00000347982.4_Missense_Mutation_p.E1709K|NSD1_ENST00000354179.4_Missense_Mutation_p.E1709K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1875K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1978	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTTATAGATGAAGAAGAATG	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													211.0	209.0	210.0					5																	176709505		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5932G>A	5.37:g.176709505G>A	ENSP00000395929:p.Glu1978Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1978K	ENST00000439151.2	37	c.5932	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.762394	0.96906	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.77	5.77	0.91146	SET domain (3);	0.253174	0.31404	N	0.007709	D	0.86083	0.5848	L	0.39147	1.195	0.80722	D	1	D;D	0.71674	0.998;0.985	D;D	0.66497	0.944;0.94	D	0.86218	0.1629	10	0.66056	D	0.02	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1709;1978	Q96L73-2;Q96L73	.;NSD1_HUMAN	K	1709;1978;1709;1875	ENSP00000346111:E1709K;ENSP00000395929:E1978K;ENSP00000343209:E1709K;ENSP00000354310:E1875K	ENSP00000343209:E1709K	E	+	1	0	NSD1	176642111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.884000	0.98904	0.655000	0.94253	GAA	NSD1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000165671		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	404	0.00	0	G	NM_172349		176709505	176709505	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	163	14.21	27	SNP	1.000	A
NT5C3A	51251	genome.wustl.edu	37	7	33060930	33060930	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:33060930C>G	ENST00000242210.7	-	5	485	c.409G>C	c.(409-411)Gat>Cat	p.D137H	NT5C3A_ENST00000409787.1_Missense_Mutation_p.D98H|NT5C3A_ENST00000381626.2_Missense_Mutation_p.D86H|NT5C3A_ENST00000396152.2_Missense_Mutation_p.D98H|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D86H|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D132H|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D98H	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	137			D -> V (in P5N deficiency; may alter protein structure). {ECO:0000269|PubMed:11369620}.		dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										AGAACAGGATCAACTTCAATA	0.299																																						dbGAP											0													104.0	106.0	105.0					7																	33060930		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.409G>C	7.37:g.33060930C>G	ENSP00000242210:p.Asp137His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.D137H	ENST00000242210.7	37	c.409	CCDS34616.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347548	0.82022	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.68	4.81	0.61882	HAD-like domain (1);	0.045090	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94779	0.7952	10	0.72032	D	0.01	.	14.6024	0.68450	0.0:0.9301:0.0:0.0699	.	137;98	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	H	86;98;137;98;86;98	ENSP00000371039:D86H;ENSP00000379456:D98H;ENSP00000242210:D137H;ENSP00000385261:D98H;ENSP00000387166:D86H;ENSP00000387205:D98H	ENSP00000242210:D137H	D	-	1	0	NT5C3	33027455	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.092000	0.71414	1.418000	0.47098	0.655000	0.94253	GAT	NT5C3	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	ENSG00000122643		0.299	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	NT5C3	HGNC	protein_coding	OTTHUMT00000328880.1	284	0.00	0	C	NM_016489		33060930	33060930	-1	no_errors	ENST00000242210	ensembl	human	known	69_37n	missense	161	13.44	25	SNP	1.000	G
TSC2	7249	genome.wustl.edu	37	16	2096298	2096298	+	5'Flank	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:2096298C>G	ENST00000219476.3	+	0	0				TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000401874.2_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.G70A|TSC2_ENST00000350773.4_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACTGTCCGAGCCCTCATAGGC	0.617			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													100.0	96.0	97.0					16																	2096298		2198	4300	6498	-	-	-	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096298C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.G70A	ENST00000219476.3	37	c.209	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.461951	0.01062	.	.	ENSG00000065057	ENST00000219066	T	0.12774	2.65	4.73	1.49	0.22878	.	1.083010	0.07091	N	0.838782	T	0.03520	0.0101	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41106	-0.9527	10	0.05620	T	0.96	-0.0744	3.0772	0.06251	0.0852:0.285:0.36:0.2699	.	70;70	E5KTI5;P78549	.;NTHL1_HUMAN	A	70	ENSP00000219066:G70A	ENSP00000219066:G70A	G	-	2	0	NTHL1	2036299	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-0.315000	0.08081	0.047000	0.15862	-0.311000	0.09066	GGC	NTHL1	-	NULL	ENSG00000065057		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2	99	0.00	0	C	NM_000548		2096298	2096298	-1	no_errors	ENST00000219066	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	0.000	G
NTSR2	23620	genome.wustl.edu	37	2	11798750	11798750	+	Missense_Mutation	SNP	G	G	C	rs145400490		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:11798750G>C	ENST00000306928.5	-	4	1122	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	363					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCTGAAGGAGGAGGACACGGC	0.537																																						dbGAP											0													90.0	90.0	90.0					2																	11798750		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1088C>G	2.37:g.11798750G>C	ENSP00000303686:p.Ser363Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S363C	ENST00000306928.5	37	c.1088	CCDS1681.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160398	0.78226	.	.	ENSG00000169006	ENST00000306928	T	0.39997	1.05	4.31	4.31	0.51392	.	0.125026	0.36519	N	0.002553	T	0.44561	0.1299	L	0.32530	0.975	0.43238	D	0.995145	D	0.63046	0.992	P	0.52710	0.707	T	0.44097	-0.9350	10	0.54805	T	0.06	-16.7547	15.0657	0.71992	0.0:0.0:1.0:0.0	.	363	O95665	NTR2_HUMAN	C	363	ENSP00000303686:S363C	ENSP00000303686:S363C	S	-	2	0	NTSR2	11716201	1.000000	0.71417	0.970000	0.41538	0.741000	0.42261	8.423000	0.90264	2.324000	0.78689	0.650000	0.86243	TCC	NTSR2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000169006		0.537	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1	199	0.00	0	G			11798750	11798750	-1	no_errors	ENST00000306928	ensembl	human	known	69_37n	missense	99	10.81	12	SNP	1.000	C
NUDC	10726	genome.wustl.edu	37	1	27272144	27272144	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:27272144C>T	ENST00000321265.5	+	8	1034	c.911C>T	c.(910-912)tCa>tTa	p.S304L	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	304					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.S304L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CTGCCAACTTCAGACGAACAG	0.552																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	97.0	96.0					1																	27272144		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.911C>T	1.37:g.27272144C>T	ENSP00000319664:p.Ser304Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S304L	ENST00000321265.5	37	c.911	CCDS292.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.343841	0.95807	.	.	ENSG00000090273	ENST00000321265	T	0.72051	-0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93296	0.6672	10	0.87932	D	0	1.5853	18.8328	0.92148	0.0:1.0:0.0:0.0	.	304	Q9Y266	NUDC_HUMAN	L	304	ENSP00000319664:S304L	ENSP00000319664:S304L	S	+	2	0	NUDC	27144731	1.000000	0.71417	0.955000	0.39395	0.927000	0.56198	7.818000	0.86416	2.447000	0.82792	0.655000	0.94253	TCA	NUDC	-	NULL	ENSG00000090273		0.552	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	101	0.00	0	C			27272144	27272144	+1	no_errors	ENST00000321265	ensembl	human	known	69_37n	missense	71	16.47	14	SNP	1.000	T
NUDT7	283927	genome.wustl.edu	37	16	77775548	77775548	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:77775548G>A	ENST00000268533.5	+	4	487	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.E87K|NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_Silent_p.*171*	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	140	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GAATCCTGCTGAAGTTAAGGA	0.428																																						dbGAP											0													87.0	82.0	84.0					16																	77775548		1928	4125	6053	-	-	-	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.418G>A	16.37:g.77775548G>A	ENSP00000268533:p.Glu140Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E140K	ENST00000268533.5	37	c.418	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823247	0.71143	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.54866	0.55;0.79	5.64	5.64	0.86602	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85483	0.5707	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91743	0.5406	10	0.87932	D	0	-28.4668	18.2812	0.90098	0.0:0.0:1.0:0.0	.	87;140	B4DLE5;P0C024	.;NUDT7_HUMAN	K	140;87	ENSP00000268533:E140K;ENSP00000387707:E87K	ENSP00000268533:E140K	E	+	1	0	NUDT7	76333049	1.000000	0.71417	0.859000	0.33776	0.067000	0.16453	7.887000	0.87295	2.653000	0.90120	0.655000	0.94253	GAA	NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.428	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	99	0.00	0	G			77775548	77775548	+1	no_errors	ENST00000268533	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	0.998	A
NUGGC	389643	genome.wustl.edu	37	8	27886852	27886852	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:27886852G>T	ENST00000413272.2	-	17	2227	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E	NUGGC_ENST00000341513.6_Missense_Mutation_p.D695E	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	695					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCACCTGCCGGTCCACTCCTC	0.532																																						dbGAP											0													53.0	60.0	57.0					8																	27886852		2033	4186	6219	-	-	-	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2085C>A	8.37:g.27886852G>T	ENSP00000408697:p.Asp695Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.D695E	ENST00000413272.2	37	c.2085	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	3.970	-0.008627	0.07727	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.10573	2.86;2.86	5.56	2.53	0.30540	.	0.539998	0.20150	N	0.098196	T	0.04318	0.0119	N	0.08118	0	0.25918	N	0.983148	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	10	0.07325	T	0.83	-17.4264	8.0886	0.30786	0.0:0.4204:0.4285:0.1511	.	695	Q68CJ6	SLIP_HUMAN	E	695	ENSP00000408697:D695E;ENSP00000345031:D695E	ENSP00000345031:D695E	D	-	3	2	C8orf80	27942771	0.833000	0.29383	0.997000	0.53966	0.981000	0.71138	-0.004000	0.12878	0.652000	0.30806	0.655000	0.94253	GAC	NUGGC	-	NULL	ENSG00000189233		0.532	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	257	0.00	0	G	NM_001010906		27886852	27886852	-1	no_errors	ENST00000341513	ensembl	human	known	69_37n	missense	113	14.39	19	SNP	0.996	T
NUP153	9972	genome.wustl.edu	37	6	17675248	17675248	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:17675248G>A	ENST00000262077.2	-	5	739	c.740C>T	c.(739-741)tCa>tTa	p.S247L	NUP153_ENST00000537253.1_Missense_Mutation_p.S247L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	247					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 RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTAAGGATTGAAGAATTCCC	0.423																																						dbGAP											0													99.0	95.0	96.0					6																	17675248		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.740C>T	6.37:g.17675248G>A	ENSP00000262077:p.Ser247Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.S247L	ENST00000262077.2	37	c.740	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936824	0.92458	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.40225	1.04;1.04	5.74	5.74	0.90152	Nucleoporin, Nup153-like (1);	0.167176	0.28677	N	0.014502	T	0.62024	0.2394	M	0.77103	2.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.997	D;D;D	0.87578	0.998;0.939;0.987	T	0.59537	-0.7436	10	0.42905	T	0.14	-5.5403	19.9326	0.97124	0.0:0.0:1.0:0.0	.	247;269;247	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	247;269;247	ENSP00000262077:S247L;ENSP00000444029:S247L	ENSP00000262077:S247L	S	-	2	0	NUP153	17783227	1.000000	0.71417	0.984000	0.44739	0.830000	0.47004	6.528000	0.73807	2.720000	0.93068	0.650000	0.86243	TCA	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.423	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	196	0.00	0	G			17675248	17675248	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	1.000	A
NXPE2	120406	genome.wustl.edu	37	11	114569282	114569282	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:114569282C>T	ENST00000389586.4	+	3	838	c.648C>T	c.(646-648)ttC>ttT	p.F216F	NXPE2_ENST00000375475.5_Silent_p.F216F	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	216						integral component of membrane (GO:0016021)											GGATCATCTTCACTGGCCTGT	0.527																																						dbGAP											0													102.0	101.0	101.0					11																	114569282		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.648C>T	11.37:g.114569282C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKI8	Silent	SNP	superfamily_Ig_E-set	p.F216	ENST00000389586.4	37	c.648	CCDS44738.1	11																																																																																			NXPE2	-	NULL	ENSG00000204361		0.527	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	HGNC	protein_coding	OTTHUMT00000399181.1	192	0.00	0	C	NM_182495		114569282	114569282	+1	no_errors	ENST00000389586	ensembl	human	known	69_37n	silent	107	14.40	18	SNP	0.951	T
OCRL	4952	genome.wustl.edu	37	X	128723901	128723901	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:128723901C>T	ENST00000371113.4	+	23	2714	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	OCRL_ENST00000357121.5_Missense_Mutation_p.S842F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	850	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTAAAATTCTCTGAATACAAT	0.408																																						dbGAP											0													137.0	123.0	128.0					X																	128723901		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2549C>T	X.37:g.128723901C>T	ENSP00000360154:p.Ser850Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S850F	ENST00000371113.4	37	c.2549	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374820	0.82573	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.24908	1.83;1.83	5.64	4.78	0.61160	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.055883	0.85682	D	0.000000	T	0.53965	0.1829	M	0.84511	2.7	0.58432	D	0.999998	D;D	0.61080	0.989;0.979	P;D	0.65573	0.885;0.936	T	0.62497	-0.6842	10	0.87932	D	0	.	14.8247	0.70101	0.0:0.8598:0.1402:0.0	.	842;850	Q01968-2;Q01968	.;OCRL_HUMAN	F	850;842	ENSP00000360154:S850F;ENSP00000349635:S842F	ENSP00000349635:S842F	S	+	2	0	OCRL	128551582	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.128000	0.64733	1.141000	0.42275	0.597000	0.82753	TCT	OCRL	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000122126		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	206	0.00	0	C	NM_000276		128723901	128723901	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	missense	110	15.38	20	SNP	1.000	T
ODF2	4957	genome.wustl.edu	37	9	131236003	131236003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:131236003G>T	ENST00000434106.3	+	8	1189	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	ODF2_ENST00000372791.3_Nonsense_Mutation_p.E257*|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000448249.3_Nonsense_Mutation_p.E195*|ODF2_ENST00000372814.3_Nonsense_Mutation_p.E320*|ODF2_ENST00000393527.3_Nonsense_Mutation_p.E252*|ODF2_ENST00000546203.1_Nonsense_Mutation_p.E257*|ODF2_ENST00000393533.2_Nonsense_Mutation_p.E276*|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372807.5_Nonsense_Mutation_p.E271*|ODF2_ENST00000604420.1_Nonsense_Mutation_p.E276*|ODF2_ENST00000351030.3_Nonsense_Mutation_p.E271*|ODF2_ENST00000444119.2_Nonsense_Mutation_p.E252*	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	276					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTCCTGAGGGAACAGCACTG	0.542																																						dbGAP											0													81.0	72.0	75.0					9																	131236003		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.826G>T	9.37:g.131236003G>T	ENSP00000403453:p.Glu276*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Nonsense_Mutation	SNP	NULL	p.E276*	ENST00000434106.3	37	c.826	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.557248	0.96514	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000432065;ENST00000372791	.	.	.	5.92	5.92	0.95590	.	0.083956	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-21.9681	18.888	0.92387	0.0:0.0:1.0:0.0	.	.	.	.	X	276;320;271;276;252;195;257;200;257	.	ENSP00000307781:E252X	E	+	1	0	ODF2	130275824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.790000	0.75115	2.811000	0.96726	0.555000	0.69702	GAA	ODF2	-	NULL	ENSG00000136811		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	94	0.00	0	G			131236003	131236003	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	nonsense	43	10.42	5	SNP	1.000	T
ODF2	4957	genome.wustl.edu	37	9	131250224	131250224	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:131250224G>A	ENST00000434106.3	+	14	1819	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	ODF2_ENST00000372791.3_Missense_Mutation_p.D467N|ODF2_ENST00000448249.3_Missense_Mutation_p.D405N|ODF2_ENST00000372814.3_Missense_Mutation_p.D530N|ODF2_ENST00000393527.3_Missense_Mutation_p.D462N|ODF2_ENST00000546203.1_Missense_Mutation_p.D467N|ODF2_ENST00000393533.2_Missense_Mutation_p.D486N|ODF2_ENST00000372807.5_Missense_Mutation_p.D481N|ODF2_ENST00000604420.1_Missense_Mutation_p.D486N|ODF2_ENST00000351030.3_Missense_Mutation_p.D481N|ODF2_ENST00000444119.2_Missense_Mutation_p.D462N	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	486					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GATGCGGGAAGACCGGGATAG	0.507																																						dbGAP											0													111.0	101.0	104.0					9																	131250224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1456G>A	9.37:g.131250224G>A	ENSP00000403453:p.Asp486Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.D486N	ENST00000434106.3	37	c.1456	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211274	0.79240	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.95;1.93;1.95;1.51;1.51;1.51	5.7	5.7	0.88788	.	0.093652	0.64402	D	0.000001	T	0.28167	0.0695	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B;B;B;B	0.30236	0.234;0.06;0.119;0.029;0.274;0.119;0.274;0.029	B;B;B;B;B;B;B;B	0.27887	0.061;0.047;0.061;0.034;0.084;0.061;0.084;0.034	T	0.03221	-1.1059	10	0.22109	T	0.4	-20.6885	17.3343	0.87276	0.0:0.0:1.0:0.0	.	467;481;405;420;486;467;486;462	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	N	486;530;481;486;462;405;467;467	ENSP00000377166:D486N;ENSP00000361901:D530N;ENSP00000342581:D481N;ENSP00000361882:D486N;ENSP00000307781:D462N;ENSP00000396687:D405N;ENSP00000437579:D467N;ENSP00000361877:D467N	ENSP00000307781:D462N	D	+	1	0	ODF2	130290045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.546000	0.90661	2.692000	0.91855	0.655000	0.94253	GAC	ODF2	-	NULL	ENSG00000136811		0.507	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	206	0.00	0	G			131250224	131250224	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	148	11.90	20	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78383321	78383321	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:78383321C>T	ENST00000278550.7	-	31	6012	c.5550G>A	c.(5548-5550)gaG>gaA	p.E1850E		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1850					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)										CATAGATCTTCTCTGTGCGTG	0.522																																						dbGAP											0													92.0	91.0	91.0					11																	78383321		1958	4167	6125	-	-	-	SO:0001819	synonymous_variant	0			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.5550G>A	11.37:g.78383321C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1850	ENST00000278550.7	37	c.5550	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	171	0.00	0	C			78383321	78383321	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	95	18.10	21	SNP	1.000	T
OGFOD1	55239	genome.wustl.edu	37	16	56510098	56510098	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:56510098C>T	ENST00000566157.1	+	13	1733	c.1610C>T	c.(1609-1611)tCa>tTa	p.S537L	OGFOD1_ENST00000568397.1_Missense_Mutation_p.S494L	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	537					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TGGGACTTTTCATTCATCTAT	0.413																																						dbGAP											0													50.0	48.0	48.0					16																	56510098		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1610C>T	16.37:g.56510098C>T	ENSP00000457258:p.Ser537Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.S537L	ENST00000566157.1	37	c.1610	CCDS10761.2	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081685	0.76528	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.68	5.68	0.88126	.	0.164767	0.56097	D	0.000032	T	0.59783	0.2219	L	0.59436	1.845	0.80722	D	1	B	0.34181	0.44	B	0.32533	0.147	T	0.60596	-0.7232	9	0.44086	T	0.13	-6.518	16.0769	0.80974	0.0:0.8661:0.1339:0.0	.	537	Q8N543	OGFD1_HUMAN	L	537;381	.	ENSP00000337196:S537L	S	+	2	0	OGFOD1	55067599	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.643000	0.67895	2.653000	0.90120	0.650000	0.86243	TCA	OGFOD1	-	NULL	ENSG00000087263		0.413	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	115	0.00	0	C	NM_018233		56510098	56510098	+1	no_errors	ENST00000566157	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	T
OGT	8473	genome.wustl.edu	37	X	70793552	70793552	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:70793552G>C	ENST00000373719.3	+	22	3266	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	OGT_ENST00000373701.3_Missense_Mutation_p.E1007Q	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1017					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AATGGAACTAGAGCGGCTCTA	0.423																																						dbGAP											0													119.0	95.0	103.0					X																	70793552		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.3049G>C	X.37:g.70793552G>C	ENSP00000362824:p.Glu1017Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1017Q	ENST00000373719.3	37	c.3049	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880013	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.80123	-1.34;-1.34	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.997;1.0	D	0.95491	0.8569	10	0.72032	D	0.01	-4.0953	17.3904	0.87428	0.0:0.0:1.0:0.0	.	891;1007;1017	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	Q	1017;1007	ENSP00000362824:E1017Q;ENSP00000362805:E1007Q	ENSP00000362805:E1007Q	E	+	1	0	OGT	70710277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.507000	0.97996	2.376000	0.81061	0.600000	0.82982	GAG	OGT	-	NULL	ENSG00000147162		0.423	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	246	0.00	0	G	NM_003605, NM_181672		70793552	70793552	+1	no_errors	ENST00000373719	ensembl	human	known	69_37n	missense	113	12.40	16	SNP	1.000	C
OPTN	10133	genome.wustl.edu	37	10	13164482	13164482	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:13164482G>C	ENST00000378748.3	+	9	1239	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	OPTN_ENST00000378757.2_Missense_Mutation_p.E293Q|OPTN_ENST00000378747.3_Missense_Mutation_p.E293Q|OPTN_ENST00000378752.3_Missense_Mutation_p.E287Q|OPTN_ENST00000263036.5_Missense_Mutation_p.E293Q|OPTN_ENST00000378764.2_Missense_Mutation_p.E287Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	293					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAAAGGCCCGGAGACTGTGAG	0.448																																						dbGAP											0													56.0	63.0	61.0					10																	13164482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.877G>C	10.37:g.13164482G>C	ENSP00000368022:p.Glu293Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.E293Q	ENST00000378748.3	37	c.877	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295102	0.23564	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.83	4.93	0.64822	.	0.317362	0.38778	N	0.001564	D	0.85141	0.5629	M	0.74881	2.28	0.40350	D	0.979129	B;B	0.27971	0.196;0.074	B;B	0.29176	0.099;0.031	T	0.80885	-0.1182	10	0.20046	T	0.44	-17.7185	10.9167	0.47139	0.0858:0.0:0.9142:0.0	.	287;293	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	Q	293;287;293;287;293;293	ENSP00000263036:E293Q;ENSP00000368040:E287Q;ENSP00000368032:E293Q;ENSP00000368027:E287Q;ENSP00000368022:E293Q;ENSP00000368021:E293Q	ENSP00000263036:E293Q	E	+	1	0	OPTN	13204488	0.995000	0.38212	0.721000	0.30653	0.066000	0.16364	2.577000	0.46042	1.478000	0.48253	0.650000	0.86243	GAG	OPTN	-	NULL	ENSG00000123240		0.448	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	155	0.00	0	G	NM_021980		13164482	13164482	+1	no_errors	ENST00000263036	ensembl	human	known	69_37n	missense	69	14.81	12	SNP	0.915	C
OR13C4	138804	genome.wustl.edu	37	9	107289308	107289308	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:107289308G>A	ENST00000277216.3	-	1	182	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCCCAGGAAGAAGTACATGG	0.418																																						dbGAP											0													152.0	126.0	135.0					9																	107289308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.183C>T	9.37:g.107289308G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF51|Q96R41	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F61	ENST00000277216.3	37	c.183	CCDS35088.1	9																																																																																			OR13C4	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000148136		0.418	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	230	0.00	0	G			107289308	107289308	-1	no_errors	ENST00000277216	ensembl	human	known	69_37n	silent	154	12.50	22	SNP	1.000	A
OR1J2	26740	genome.wustl.edu	37	9	125273830	125273830	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:125273830C>T	ENST00000335302.5	+	1	750	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGGTGTCTCTCTATTATGGGT	0.493																																						dbGAP											0													232.0	196.0	208.0					9																	125273830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.750C>T	9.37:g.125273830C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L250	ENST00000335302.5	37	c.750	CCDS35121.1	9																																																																																			OR1J2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197233		0.493	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	353	0.00	0	C			125273830	125273830	+1	no_errors	ENST00000335302	ensembl	human	known	69_37n	silent	205	13.81	33	SNP	0.000	T
OR2J1	442185	genome.wustl.edu	37	6	29068920	29068920	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:29068920C>T	ENST00000377171.3	+	1	535	c.201C>T	c.(199-201)ctC>ctT	p.L67L				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						TTTCAAATCTCTCATTTCTGG	0.468																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.201C>T	6.37:g.29068920C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAS1|B0V1T2|Q9GZK1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L67	ENST00000377171.3	37	c.201		6																																																																																			OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204702		0.468	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	68	0.00	0	C	NG_004683		29068920	29068920	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	silent	47	11.32	6	SNP	0.767	T
OR4C11	219429	genome.wustl.edu	37	11	55371784	55371784	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:55371784C>T	ENST00000302231.4	-	1	90	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACACTATTTTCTGCCTCAAGG	0.398																																						dbGAP											0													69.0	65.0	66.0					11																	55371784		2175	4007	6182	-	-	-	SO:0001819	synonymous_variant	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.66G>A	11.37:g.55371784C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIL4|Q8NGL8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q22	ENST00000302231.4	37	c.66	CCDS31503.1	11																																																																																			OR4C11	-	NULL	ENSG00000172188		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	117	0.00	0	C	NM_001004700		55371784	55371784	-1	no_errors	ENST00000302231	ensembl	human	known	69_37n	silent	39	17.02	8	SNP	0.073	T
OR51E1	143503	genome.wustl.edu	37	11	4674549	4674549	+	Missense_Mutation	SNP	C	C	G	rs142449769		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:4674549C>G	ENST00000396952.5	+	2	1443	c.793C>G	c.(793-795)Cgc>Ggc	p.R265G	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGTGCATCGCTTTAGCAA	0.507																																						dbGAP											0													216.0	202.0	207.0					11																	4674549		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.793C>G	11.37:g.4674549C>G	ENSP00000380155:p.Arg265Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R265G	ENST00000396952.5	37	c.793	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210601	0.39102	.	.	ENSG00000180785	ENST00000396952	T	0.37058	1.22	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.106618	0.42682	D	0.000679	T	0.60327	0.2260	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64407	-0.6415	10	0.87932	D	0	.	12.0338	0.53412	0.1726:0.8274:0.0:0.0	.	264	Q8TCB6	O51E1_HUMAN	G	265	ENSP00000380155:R265G	ENSP00000380155:R265G	R	+	1	0	OR51E1	4631125	0.039000	0.19947	0.996000	0.52242	0.070000	0.16714	0.296000	0.19083	2.650000	0.89964	0.655000	0.94253	CGC	OR51E1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180785		0.507	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	291	0.00	0	C	NM_152430		4674549	4674549	+1	no_errors	ENST00000396952	ensembl	human	known	69_37n	missense	141	15.06	25	SNP	1.000	G
OR56B4	196335	genome.wustl.edu	37	11	6129491	6129491	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:6129491G>A	ENST00000316529.3	+	1	578	c.483G>A	c.(481-483)ttG>ttA	p.L161L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCCTGTTGACCATCCCAG	0.507																																						dbGAP											0													121.0	111.0	114.0					11																	6129491		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.483G>A	11.37:g.6129491G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFD7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.L161	ENST00000316529.3	37	c.483	CCDS31406.1	11																																																																																			OR56B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180919		0.507	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	HGNC	protein_coding	OTTHUMT00000384668.1	154	0.00	0	G	NM_001005181		6129491	6129491	+1	no_errors	ENST00000316529	ensembl	human	known	69_37n	silent	76	14.61	13	SNP	0.000	A
OR8K1	390157	genome.wustl.edu	37	11	56114208	56114208	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:56114208C>T	ENST00000279783.2	+	1	788	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AGTGGCCATTCTCAGAATGAA	0.368										HNSCC(65;0.19)																												dbGAP											0													102.0	91.0	95.0					11																	56114208		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.694C>T	11.37:g.56114208C>T	ENSP00000279783:p.Leu232Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L232F	ENST00000279783.2	37	c.694	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	8.833	0.940422	0.18281	.	.	ENSG00000150261	ENST00000279783	T	0.00296	8.24	5.0	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000527	T	0.00241	0.0007	M	0.69185	2.1	0.09310	N	1	B	0.22851	0.076	B	0.27170	0.077	T	0.39251	-0.9623	10	0.62326	D	0.03	-6.0505	6.3493	0.21367	0.1281:0.6606:0.0:0.2113	.	232	Q8NGG5	OR8K1_HUMAN	F	232	ENSP00000279783:L232F	ENSP00000279783:L232F	L	+	1	0	OR8K1	55870784	0.000000	0.05858	0.578000	0.28575	0.547000	0.35210	-0.447000	0.06828	0.492000	0.27815	0.549000	0.68633	CTC	OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000150261		0.368	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	250	0.00	0	C	NM_001002907		56114208	56114208	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	missense	101	12.93	15	SNP	0.000	T
OR5B17	219965	genome.wustl.edu	37	11	58125988	58125988	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:58125988C>T	ENST00000357377.3	-	1	554	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGAGCAGGTCAGAGTAATGA	0.363																																						dbGAP											0													73.0	66.0	69.0					11																	58125988		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.555G>A	11.37:g.58125988C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L185	ENST00000357377.3	37	c.555	CCDS31548.1	11																																																																																			OR5B17	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197786		0.363	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B17	HGNC	protein_coding	OTTHUMT00000394708.2	93	0.00	0	C	NM_001005489		58125988	58125988	-1	no_errors	ENST00000357377	ensembl	human	known	69_37n	silent	40	24.53	13	SNP	0.014	T
OR4D6	219983	genome.wustl.edu	37	11	59224695	59224695	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:59224695G>A	ENST00000300127.2	+	1	285	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTTATCAGACAGGAAAAC	0.448																																						dbGAP											0													145.0	137.0	139.0					11																	59224695		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.262G>A	11.37:g.59224695G>A	ENSP00000300127:p.Asp88Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D88N	ENST00000300127.2	37	c.262	CCDS31562.1	11	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337694	0.41398	.	.	ENSG00000166884	ENST00000300127	T	0.03094	4.05	6.0	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.362556	0.23123	N	0.051668	T	0.02494	0.0076	N	0.17379	0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42699	-0.9436	10	0.59425	D	0.04	-1.8369	6.0409	0.19734	0.2013:0.2567:0.542:0.0	.	88	Q8NGJ1	OR4D6_HUMAN	N	88	ENSP00000300127:D88N	ENSP00000300127:D88N	D	+	1	0	OR4D6	58981271	0.000000	0.05858	0.708000	0.30435	0.979000	0.70002	-0.430000	0.06973	0.139000	0.18822	0.650000	0.86243	GAC	OR4D6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166884		0.448	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	327	0.00	0	G	NM_001004708		59224695	59224695	+1	no_errors	ENST00000300127	ensembl	human	known	69_37n	missense	156	15.68	29	SNP	0.014	A
ORC1	4998	genome.wustl.edu	37	1	52850287	52850287	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:52850287G>C	ENST00000371568.3	-	11	1908	c.1690C>G	c.(1690-1692)Caa>Gaa	p.Q564E	ORC1_ENST00000371566.1_Missense_Mutation_p.Q564E	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	564	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCAATGTATTGAAAGGGAGGA	0.507																																						dbGAP											0													129.0	104.0	113.0					1																	52850287		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1690C>G	1.37:g.52850287G>C	ENSP00000360623:p.Gln564Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.Q564E	ENST00000371568.3	37	c.1690	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894378	0.17613	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.92397	-3.03;-3.03	5.91	5.0	0.66597	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.487974	0.25363	N	0.031220	D	0.84451	0.5475	N	0.16266	0.395	0.36546	D	0.871549	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.004	T	0.79669	-0.1707	10	0.06625	T	0.88	-6.245	17.3426	0.87301	0.0:0.1248:0.8752:0.0	.	559;564	B7Z8H0;Q13415	.;ORC1_HUMAN	E	564	ENSP00000360623:Q564E;ENSP00000360621:Q564E	ENSP00000360621:Q564E	Q	-	1	0	ORC1	52622875	0.989000	0.36119	0.992000	0.48379	0.525000	0.34531	0.607000	0.24209	1.472000	0.48140	0.655000	0.94253	CAA	ORC1	-	pfam_ATPase_AAA_core,pfam_DUF2075,smart_AAA+_ATPase	ENSG00000085840		0.507	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	178	0.00	0	G	NM_004153		52850287	52850287	-1	no_errors	ENST00000371566	ensembl	human	known	69_37n	missense	100	13.04	15	SNP	0.995	C
OSBPL1A	114876	genome.wustl.edu	37	18	21750311	21750311	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:21750311C>G	ENST00000319481.3	-	24	2604	c.2398G>C	c.(2398-2400)Gag>Cag	p.E800Q	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.E287Q|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.E418Q|RNA5SP452_ENST00000363004.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	800					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)					TTCTTCTTCTCTTCTGTATTT	0.413																																						dbGAP											0													300.0	263.0	275.0					18																	21750311		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2398G>C	18.37:g.21750311C>G	ENSP00000320291:p.Glu800Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E800Q	ENST00000319481.3	37	c.2398	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776843	0.49786	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.43294	0.95;0.96;0.96	5.89	5.89	0.94794	.	0.141053	0.64402	D	0.000006	T	0.44519	0.1297	L	0.28556	0.865	0.80722	D	1	P	0.44659	0.84	P	0.48598	0.583	T	0.10428	-1.0630	10	0.33141	T	0.24	-19.4755	20.2435	0.98387	0.0:1.0:0.0:0.0	.	800	Q9BXW6	OSBL1_HUMAN	Q	800;287;418	ENSP00000320291:E800Q;ENSP00000382372:E287Q;ENSP00000349545:E418Q	ENSP00000320291:E800Q	E	-	1	0	OSBPL1A	20004309	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.084000	0.57650	2.784000	0.95788	0.650000	0.86243	GAG	OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.413	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	594	0.00	0	C	NM_080597		21750311	21750311	-1	no_errors	ENST00000319481	ensembl	human	known	69_37n	missense	266	27.76	103	SNP	1.000	G
OTUB2	78990	genome.wustl.edu	37	14	94505335	94505335	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:94505335C>T	ENST00000203664.5	+	3	335	c.126C>T	c.(124-126)atC>atT	p.I42I	OTUB2_ENST00000553723.1_Silent_p.I42I	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	42	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TCACCGCCATCCGCAAGACCA	0.562																																						dbGAP											0													177.0	166.0	170.0					14																	94505335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.126C>T	14.37:g.94505335C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA10|Q9H6T1	Silent	SNP	pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.I42	ENST00000203664.5	37	c.126	CCDS9917.1	14																																																																																			OTUB2	-	pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	ENSG00000089723		0.562	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB2	HGNC	protein_coding	OTTHUMT00000412855.1	144	0.00	0	C			94505335	94505335	+1	no_errors	ENST00000203664	ensembl	human	known	69_37n	silent	77	12.50	11	SNP	0.997	T
OVCH1	341350	genome.wustl.edu	37	12	29628064	29628064	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:29628064C>T	ENST00000318184.5	-	14	1529	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	510	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TAAAGTATATCACCGTCATGT	0.313																																						dbGAP											0													50.0	45.0	46.0					12																	29628064		1826	4088	5914	-	-	-	SO:0001819	synonymous_variant	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1530G>A	12.37:g.29628064C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6	p.V510	ENST00000318184.5	37	c.1530		12																																																																																			OVCH1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000187950		0.313	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	169	0.00	0	C	NM_183378		29628064	29628064	-1	no_errors	ENST00000318184	ensembl	human	known	69_37n	silent	46	24.59	15	SNP	0.077	T
OVGP1	5016	genome.wustl.edu	37	1	111957325	111957325	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:111957325C>T	ENST00000369732.3	-	11	1853	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	600					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTGCCCACCTCAGAAGTCAAA	0.542																																						dbGAP											0													78.0	77.0	78.0					1																	111957325		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1798G>A	1.37:g.111957325C>T	ENSP00000358747:p.Glu600Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.E600K	ENST00000369732.3	37	c.1798	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537470	0.27475	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.09445	2.98	3.69	-2.62	0.06152	.	48.093600	0.00166	N	0.000000	T	0.03564	0.0102	L	0.42245	1.32	0.09310	N	1	B;B	0.17852	0.009;0.024	B;B	0.09377	0.004;0.004	T	0.46938	-0.9155	10	0.72032	D	0.01	-0.3737	8.6856	0.34236	0.0:0.355:0.0:0.645	.	600;664	Q12889;Q59HH5	OVGP1_HUMAN;.	K	600;664;408	ENSP00000358747:E600K	ENSP00000358743:E664K	E	-	1	0	OVGP1	111758848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.470000	0.06639	-0.594000	0.05836	-0.482000	0.04802	GAG	OVGP1	-	NULL	ENSG00000085465		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	157	0.00	0	C	NM_002557		111957325	111957325	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	missense	84	12.50	12	SNP	0.000	T
P2RY8	286530	genome.wustl.edu	37	X	1585257	1585257	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:1585257C>G	ENST00000381297.4	-	2	405	c.195G>C	c.(193-195)ctG>ctC	p.L65L	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTGACGCTCAGGTTGATCA	0.607			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	dbGAP		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													114.0	103.0	107.0					X																	1585257		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.195G>C	X.37:g.1585257C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.L65	ENST00000381297.4	37	c.195	CCDS14115.1	X																																																																																			P2RY8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182162		0.607	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	119	0.00	0	C	NM_178129		1585257	1585257	-1	no_errors	ENST00000381297	ensembl	human	known	69_37n	silent	59	13.24	9	SNP	0.995	G
P4HA1	5033	genome.wustl.edu	37	10	74831931	74831931	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:74831931C>G	ENST00000307116.2	-	4	297	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	P4HA1_ENST00000440381.1_Missense_Mutation_p.E61Q|P4HA1_ENST00000412021.2_Missense_Mutation_p.E61Q|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000373008.2_Missense_Mutation_p.E61Q|P4HA1_ENST00000394890.2_Missense_Mutation_p.E61Q|P4HA1_ENST00000263556.3_Missense_Mutation_p.E61Q			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	61					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTAACTTCTCTGCCCATCTA	0.328																																					Colon(147;367 2405 2662 52127)	dbGAP											0													116.0	115.0	116.0					10																	74831931		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.181G>C	10.37:g.74831931C>G	ENSP00000307318:p.Glu61Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E61Q	ENST00000307116.2	37	c.181		10	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847601	0.71603	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.46819	0.87;0.87;0.87;0.87;0.87;0.86	4.97	4.97	0.65823	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.100540	0.64402	D	0.000002	T	0.40297	0.1111	N	0.25332	0.735	0.58432	D	0.999999	B;B;B	0.27068	0.087;0.167;0.167	B;B;B	0.30572	0.081;0.117;0.117	T	0.23084	-1.0198	10	0.38643	T	0.18	-1.9275	18.4237	0.90602	0.0:1.0:0.0:0.0	.	61;61;61	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Q	61	ENSP00000307318:E61Q;ENSP00000362099:E61Q;ENSP00000411688:E61Q;ENSP00000378353:E61Q;ENSP00000263556:E61Q;ENSP00000414464:E61Q	ENSP00000263556:E61Q	E	-	1	0	P4HA1	74501937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.233000	0.78125	2.600000	0.87896	0.491000	0.48974	GAG	P4HA1	-	pfam_Pro_4_hyd_alph_N	ENSG00000122884		0.328	P4HA1-001	KNOWN	basic	protein_coding	P4HA1	HGNC	protein_coding	OTTHUMT00000048601.1	259	0.00	0	C	NM_000917		74831931	74831931	-1	no_errors	ENST00000263556	ensembl	human	known	69_37n	missense	99	18.85	23	SNP	1.000	G
PACS2	23241	genome.wustl.edu	37	14	105834825	105834825	+	Silent	SNP	G	G	A	rs587610730	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:105834825G>A	ENST00000325438.8	+	7	1194	c.690G>A	c.(688-690)ggG>ggA	p.G230G	PACS2_ENST00000458164.2_Silent_p.G230G|PACS2_ENST00000430725.2_Silent_p.G163G|PACS2_ENST00000447393.1_Silent_p.G230G|PACS2_ENST00000547217.1_Silent_p.G200G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	230					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TTGACGTGGGGAAGCCGAAGA	0.592													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20406	0.001		0.001	False		,,,				2504	0.0					dbGAP											0													198.0	149.0	166.0					14																	105834825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.690G>A	14.37:g.105834825G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.G230	ENST00000325438.8	37	c.690	CCDS32168.1	14																																																																																			PACS2	-	NULL	ENSG00000179364		0.592	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	253	0.00	0	G	XM_377355		105834825	105834825	+1	no_errors	ENST00000458164	ensembl	human	known	69_37n	silent	131	11.49	17	SNP	0.998	A
PALB2	79728	genome.wustl.edu	37	16	23614972	23614972	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:23614972C>T	ENST00000261584.4	-	13	3521	c.3369G>A	c.(3367-3369)gtG>gtA	p.V1123V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1123	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGTGATCTTTCACGTCACCTT	0.403			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													83.0	73.0	76.0					16																	23614972		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3369G>A	16.37:g.23614972C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.V1123	ENST00000261584.4	37	c.3369	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom	ENSG00000083093		0.403	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	98	0.00	0	C	NM_024675		23614972	23614972	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	0.972	T
PALB2	79728	genome.wustl.edu	37	16	23649225	23649225	+	Missense_Mutation	SNP	C	C	T	rs587776406		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:23649225C>T	ENST00000261584.4	-	3	309	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	53	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCTTGTTCTTCTACTGTTTTC	0.378			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													187.0	180.0	182.0					16																	23649225		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.157G>A	16.37:g.23649225C>T	ENSP00000261584:p.Glu53Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.E53K	ENST00000261584.4	37	c.157	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547730	0.45383	.	.	ENSG00000083093	ENST00000261584	T	0.15487	2.42	4.97	2.97	0.34412	.	0.341962	0.24988	N	0.034012	T	0.18299	0.0439	M	0.68317	2.08	0.09310	N	1	B	0.25563	0.129	B	0.26202	0.067	T	0.17961	-1.0352	10	0.59425	D	0.04	-3.3776	7.1948	0.25847	0.0:0.7324:0.1731:0.0945	.	53	Q86YC2	PALB2_HUMAN	K	53	ENSP00000261584:E53K	ENSP00000261584:E53K	E	-	1	0	PALB2	23556726	0.914000	0.31030	0.024000	0.17045	0.700000	0.40528	1.657000	0.37366	0.734000	0.32515	0.655000	0.94253	GAA	PALB2	-	NULL	ENSG00000083093		0.378	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	459	0.00	0	C	NM_024675		23649225	23649225	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	missense	236	19.73	58	SNP	0.010	T
AKAP2	11217	genome.wustl.edu	37	9	112899931	112899931	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:112899931G>C	ENST00000259318.7	+	2	1621	c.1414G>C	c.(1414-1416)Gac>Cac	p.D472H	AKAP2_ENST00000434623.2_Missense_Mutation_p.D561H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.D703H|AKAP2_ENST00000555236.1_Missense_Mutation_p.D703H|AKAP2_ENST00000510514.5_Missense_Mutation_p.D703H|AKAP2_ENST00000374525.1_Missense_Mutation_p.D561H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D703H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	472										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAGGAGCTTGACTCTGGTCT	0.527																																						dbGAP											0													113.0	112.0	112.0					9																	112899931		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1414G>C	9.37:g.112899931G>C	ENSP00000259318:p.Asp472His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.D703H	ENST00000259318.7	37	c.2107	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985256	0.74474	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.63096	1.35;1.35;1.35;1.35;0.62;0.01;-0.02;0.65	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.32530	0.975	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	0.991;0.991;0.972;0.991;0.98;1.0;1.0;0.999	T	0.74529	-0.3635	10	0.87932	D	0	-38.8916	19.1609	0.93531	0.0:0.0:1.0:0.0	.	472;561;555;561;562;703;703;521	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	H	703;703;703;703;561;561;521;472	ENSP00000363654:D703H;ENSP00000305861:D703H;ENSP00000451476:D703H;ENSP00000421522:D703H;ENSP00000404782:D561H;ENSP00000363649:D561H;ENSP00000419268:D521H;ENSP00000259318:D472H	ENSP00000259318:D472H	D	+	1	0	PALM2-AKAP2;AKAP2	111939752	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	9.201000	0.95017	2.757000	0.94681	0.655000	0.94253	GAC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	96	0.00	0	G	NM_001004065		112899931	112899931	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	missense	48	14.04	8	SNP	1.000	C
PAMR1	25891	genome.wustl.edu	37	11	35454436	35454436	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:35454436G>C	ENST00000378880.2	-	11	2076	c.1631C>G	c.(1630-1632)tCt>tGt	p.S544C	PAMR1_ENST00000278360.3_Missense_Mutation_p.S561C|PAMR1_ENST00000378878.3_Missense_Mutation_p.S433C|PAMR1_ENST00000532848.1_Missense_Mutation_p.S504C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	544	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AATGATAGCAGAAATCTACAA	0.493																																						dbGAP											0													43.0	44.0	44.0					11																	35454436		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1631C>G	11.37:g.35454436G>C	ENSP00000368158:p.Ser544Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S561C	ENST00000378880.2	37	c.1682	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610966	0.66558	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.85	5.85	0.93711	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.103892	0.64402	D	0.000002	D	0.95156	0.8430	M	0.82433	2.59	0.58432	D	0.999998	P;D;D	0.89917	0.927;1.0;0.982	P;D;P	0.76575	0.498;0.988;0.694	D	0.95074	0.8207	10	0.87932	D	0	.	20.1775	0.98187	0.0:0.0:1.0:0.0	.	433;544;561	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	C	561;544;433;504;521	ENSP00000278360:S561C;ENSP00000368158:S544C;ENSP00000368156:S433C;ENSP00000433868:S504C;ENSP00000432591:S521C	ENSP00000278360:S561C	S	-	2	0	PAMR1	35411012	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	6.364000	0.73086	2.771000	0.95319	0.561000	0.74099	TCT	PAMR1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000149090		0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	63	0.00	0	G	NM_015430		35454436	35454436	-1	no_errors	ENST00000278360	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	1.000	C
PAPD4	167153	genome.wustl.edu	37	5	78919257	78919257	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:78919257G>C	ENST00000296783.3	+	5	709	c.410G>C	c.(409-411)cGa>cCa	p.R137P	PAPD4_ENST00000453514.1_Missense_Mutation_p.R137P|PAPD4_ENST00000504233.1_Missense_Mutation_p.R137P|PAPD4_ENST00000428308.2_Missense_Mutation_p.R137P|PAPD4_ENST00000423041.2_Missense_Mutation_p.R137P			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	137					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCACCTTTTCGAGAAATTGCA	0.358																																						dbGAP											0													126.0	118.0	121.0					5																	78919257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.410G>C	5.37:g.78919257G>C	ENSP00000296783:p.Arg137Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WZ2|Q8N927	Missense_Mutation	SNP	pfam_PAP_assoc	p.R137P	ENST00000296783.3	37	c.410	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398669	0.42512	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.92	3.09	0.35607	.	0.511140	0.19880	N	0.103982	T	0.32041	0.0816	N	0.14661	0.345	0.34965	D	0.752578	B;B;B	0.25351	0.0;0.124;0.0	B;B;B	0.23574	0.001;0.047;0.001	T	0.31916	-0.9926	10	0.41790	T	0.15	-0.281	7.5071	0.27551	0.4019:0.0:0.5981:0.0	.	137;137;137	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	P	137	ENSP00000397563:R137P;ENSP00000393412:R137P;ENSP00000396861:R137P;ENSP00000296783:R137P	ENSP00000296783:R137P	R	+	2	0	PAPD4	78955013	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.858000	0.27845	0.782000	0.33613	0.585000	0.79938	CGA	PAPD4	-	NULL	ENSG00000164329		0.358	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	217	0.00	0	G	NM_173797		78919257	78919257	+1	no_errors	ENST00000296783	ensembl	human	known	69_37n	missense	108	10.00	12	SNP	1.000	C
PAPOLB	56903	genome.wustl.edu	37	7	4901040	4901040	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:4901040G>A	ENST00000404991.1	-	1	585	c.399C>T	c.(397-399)ttC>ttT	p.F133F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	133					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTTTAGCATAGAATGAGGTGA	0.438																																						dbGAP											0													72.0	73.0	73.0					7																	4901040		2115	4262	6377	-	-	-	SO:0001819	synonymous_variant	0			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.399C>T	7.37:g.4901040G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75LH1|Q8NE14	Silent	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.F133	ENST00000404991.1	37	c.399		7																																																																																			PAPOLB	-	pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase	ENSG00000218823		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	216	0.00	0	G	NM_020144		4901040	4901040	-1	no_errors	ENST00000404991	ensembl	human	known	69_37n	silent	116	10.77	14	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176740264	176740264	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:176740264G>A	ENST00000367662.3	+	17	5827	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1555	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCAAATATGAATGCAAACC	0.493																																						dbGAP											0													105.0	98.0	100.0					1																	176740264		2028	4202	6230	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4663G>A	1.37:g.176740264G>A	ENSP00000356634:p.Glu1555Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E1555K	ENST00000367662.3	37	c.4663	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	7.899	0.734033	0.15574	.	.	ENSG00000116183	ENST00000367662	T	0.64803	-0.12	5.74	1.31	0.21738	Complement control module (2);Sushi/SCR/CCP (3);	0.286307	0.37483	N	0.002079	T	0.33760	0.0874	N	0.17082	0.46	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.22417	-1.0217	10	0.02654	T	1	-9.692	5.0741	0.14622	0.278:0.4243:0.2977:0.0	.	1555	Q9BXP8	PAPP2_HUMAN	K	1555	ENSP00000356634:E1555K	ENSP00000356634:E1555K	E	+	1	0	PAPPA2	175006887	0.990000	0.36364	0.976000	0.42696	0.900000	0.52787	2.598000	0.46223	0.674000	0.31244	0.655000	0.94253	GAA	PAPPA2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116183		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	239	0.00	0	G			176740264	176740264	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	138	11.54	18	SNP	0.998	A
PASD1	139135	genome.wustl.edu	37	X	150789405	150789405	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:150789405G>A	ENST00000370357.4	+	5	456	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	71	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					cTGCCAGGCTGAGATTGTGGG	0.403																																						dbGAP											0													73.0	74.0	74.0					X																	150789405		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.211G>A	X.37:g.150789405G>A	ENSP00000359382:p.Glu71Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.E71K	ENST00000370357.4	37	c.211	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793292	0.50102	.	.	ENSG00000166049	ENST00000370357	T	0.68331	-0.32	5.21	5.21	0.72293	PAS (2);	.	.	.	.	T	0.60663	0.2286	L	0.38175	1.15	0.09310	N	1	P	0.36837	0.571	B	0.38712	0.28	T	0.59456	-0.7451	9	0.87932	D	0	-15.9569	13.1488	0.59478	0.0:0.0:1.0:0.0	.	71	Q8IV76	PASD1_HUMAN	K	71	ENSP00000359382:E71K	ENSP00000359382:E71K	E	+	1	0	PASD1	150540061	0.913000	0.31002	0.008000	0.14137	0.004000	0.04260	3.769000	0.55303	2.164000	0.68074	0.591000	0.81541	GAG	PASD1	-	smart_PAS,pfscan_PAS	ENSG00000166049		0.403	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	185	0.00	0	G	NM_173493		150789405	150789405	+1	no_errors	ENST00000370357	ensembl	human	known	69_37n	missense	58	19.18	14	SNP	0.036	A
PATE4	399968	genome.wustl.edu	37	11	125708267	125708267	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:125708267G>C	ENST00000457514.2	+	3	286	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PATE4_ENST00000534411.1_Missense_Mutation_p.R42T	NM_001144874.1	NP_001138346.1	P0C8F1	PATE4_HUMAN	prostate and testis expressed 4	81					regulation of synaptic transmission (GO:0050804)|response to wounding (GO:0009611)	acrosomal vesicle (GO:0001669)|extracellular space (GO:0005615)				breast(1)	1						TCCTCCAAAAGAGGCCTGTTG	0.423																																						dbGAP											0													121.0	106.0	111.0					11																	125708267		692	1591	2283	-	-	-	SO:0001583	missense	0			AK123042	CCDS44765.1	11q24.2	2010-07-14			ENSG00000237353	ENSG00000237353		"""PATE family"""	35427	protein-coding gene	gene with protein product						18390568	Standard	NM_001144874		Approved	FLJ41047, PATE-B	uc001qcv.3	P0C8F1	OTTHUMG00000165235	ENST00000457514.2:c.242G>C	11.37:g.125708267G>C	ENSP00000411439:p.Arg81Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R81T	ENST00000457514.2	37	c.242	CCDS44765.1	11	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.327908	0.01309	.	.	ENSG00000237353	ENST00000534411;ENST00000457514	D	0.90069	-2.61	1.11	-2.22	0.06952	.	.	.	.	.	T	0.79753	0.4500	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.61574	-0.7035	8	0.40728	T	0.16	.	5.4544	0.16582	0.5386:0.0:0.4614:0.0	.	81	P0C8F1	PATE4_HUMAN	T	42;81	ENSP00000411439:R81T	ENSP00000411439:R81T	R	+	2	0	PATE4	125213477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.337000	0.02657	-1.100000	0.03030	-1.740000	0.00687	AGA	PATE4	-	NULL	ENSG00000237353		0.423	PATE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATE4	HGNC	protein_coding	OTTHUMT00000382865.1	155	0.00	0	G	NM_001144874		125708267	125708267	+1	no_errors	ENST00000457514	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.000	C
PBRM1	55193	genome.wustl.edu	37	3	52637660	52637660	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:52637660G>C	ENST00000296302.7	-	17	2657	c.2656C>G	c.(2656-2658)Ctt>Gtt	p.L886V	PBRM1_ENST00000410007.1_Missense_Mutation_p.L886V|PBRM1_ENST00000356770.4_Missense_Mutation_p.L854V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L886V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L886V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L886V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L901V|PBRM1_ENST00000409767.1_Missense_Mutation_p.L901V			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGTGAAAGAAGAATCTCTCCA	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	dbGAP		Rec	yes		3	3p21	55193	polybromo 1		E	0													79.0	76.0	77.0					3																	52637660		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2656C>G	3.37:g.52637660G>C	ENSP00000296302:p.Leu886Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L886V	ENST00000296302.7	37	c.2656		3	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294013	0.60086	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.09;1.11;1.07;1.08;1.08;1.54;1.07;1.08;1.19	5.72	5.72	0.89469	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.79258	2.445	0.58432	D	0.999999	P;D;P;P;P;D;D;P;P	0.60160	0.955;0.987;0.552;0.955;0.892;0.964;0.984;0.955;0.955	P;D;P;P;P;D;D;P;P	0.70935	0.904;0.937;0.742;0.904;0.864;0.971;0.914;0.904;0.904	T	0.67333	-0.5697	10	0.54805	T	0.06	-12.6412	20.2504	0.98404	0.0:0.0:1.0:0.0	.	886;886;886;886;901;901;886;854;886	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	854;886;886;886;886;886;901;901;886;845	ENSP00000349213:L854V;ENSP00000378307:L886V;ENSP00000296302:L886V;ENSP00000338302:L886V;ENSP00000386593:L886V;ENSP00000386529:L886V;ENSP00000386643:L901V;ENSP00000386601:L901V;ENSP00000387775:L886V;ENSP00000397662:L845V	ENSP00000296302:L886V	L	-	1	0	PBRM1	52612700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.676000	0.61627	2.850000	0.98022	0.650000	0.86243	CTT	PBRM1	-	superfamily_Bromodomain	ENSG00000163939		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	208	0.00	0	G	NM_018165		52637660	52637660	-1	no_errors	ENST00000296302	ensembl	human	known	69_37n	missense	95	13.51	15	SNP	1.000	C
PCCA	5095	genome.wustl.edu	37	13	101020767	101020767	+	Nonsense_Mutation	SNP	C	C	G	rs202247816		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:101020767C>G	ENST00000376285.1	+	19	1723	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	PCCA_ENST00000376279.3_Nonsense_Mutation_p.S562*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.S536*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	562					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGGGAGCTCTCAGTAAAATTG	0.318																																						dbGAP											0			GRCh37	CM991023	PCCA	M							142.0	132.0	136.0					13																	101020767		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1685C>G	13.37:g.101020767C>G	ENSP00000365462:p.Ser562*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Nonsense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.S562*	ENST00000376285.1	37	c.1685	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499801	0.64298	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000424527;ENST00000536640	.	.	.	4.77	3.9	0.45041	.	0.330472	0.33075	N	0.005308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	12.3634	0.55215	0.0:0.8295:0.1705:0.0	.	.	.	.	X	536;562;562;96;58	.	ENSP00000365456:S562X	S	+	2	0	PCCA	99818768	0.971000	0.33674	0.188000	0.23233	0.092000	0.18411	3.196000	0.51020	1.093000	0.41377	0.563000	0.77884	TCA	PCCA	-	NULL	ENSG00000175198		0.318	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	360	0.00	0	C			101020767	101020767	+1	no_errors	ENST00000376285	ensembl	human	known	69_37n	nonsense	190	11.63	25	SNP	0.224	G
PCDHA11	56138	genome.wustl.edu	37	5	140249093	140249093	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:140249093C>T	ENST00000398640.2	+	1	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	135					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTCGCTCAGAGAACAAA	0.517																																						dbGAP											0													102.0	117.0	112.0					5																	140249093		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.405C>T	5.37:g.140249093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L135	ENST00000398640.2	37	c.405	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like	ENSG00000249158		0.517	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	122	0.00	0	C	NM_018902		140249093	140249093	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.000	T
PCDHGA4	56111	genome.wustl.edu	37	5	140736007	140736007	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:140736007G>A	ENST00000571252.1	+	1	1240	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGGGAAGAAGTCTCAGA	0.413																																						dbGAP											0													54.0	53.0	54.0					5																	140736007		1998	4174	6172	-	-	-	SO:0001583	missense	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1240G>A	5.37:g.140736007G>A	ENSP00000458570:p.Glu414Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E414K	ENST00000571252.1	37	c.1240	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262576		0.413	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	101	0.00	0	G	NM_018917		140736007	140736007	+1	no_errors	ENST00000571252	ensembl	human	known	69_37n	missense	68	14.81	12	SNP	0.942	A
PCLO	27445	genome.wustl.edu	37	7	82545052	82545052	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:82545052C>T	ENST00000333891.9	-	7	12587	c.12250G>A	c.(12250-12252)Gag>Aag	p.E4084K	PCLO_ENST00000423517.2_Missense_Mutation_p.E4084K|PCLO_ENST00000437081.1_Missense_Mutation_p.E804K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGGCGTGTCTCAGTGGTTCGA	0.478																																						dbGAP											0													71.0	62.0	65.0					7																	82545052		1915	4137	6052	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12250G>A	7.37:g.82545052C>T	ENSP00000334319:p.Glu4084Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E4084K	ENST00000333891.9	37	c.12250	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095314	0.56075	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16897	2.31;2.31	5.84	5.84	0.93424	.	.	.	.	.	T	0.37293	0.0998	M	0.61703	1.905	0.53005	D	0.999965	P;D;D	0.59767	0.651;0.972;0.986	B;P;P	0.56398	0.165;0.797;0.797	T	0.03608	-1.1020	9	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	4015;4084;4084	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4084;4084;804	ENSP00000334319:E4084K;ENSP00000388393:E4084K	ENSP00000334319:E4084K	E	-	1	0	PCLO	82382988	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.309000	0.78937	2.763000	0.94921	0.557000	0.71058	GAG	PCLO	-	NULL	ENSG00000186472		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	197	0.00	0	C	NM_014510		82545052	82545052	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	0.999	T
PCM1	5108	genome.wustl.edu	37	8	17808216	17808216	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:17808216C>G	ENST00000519253.1	+	8	1305	c.1054C>G	c.(1054-1056)Cag>Gag	p.Q352E	PCM1_ENST00000518537.1_Missense_Mutation_p.Q391E|PCM1_ENST00000524226.1_Missense_Mutation_p.Q352E|PCM1_ENST00000325083.8_Missense_Mutation_p.Q352E			Q15154	PCM1_HUMAN	pericentriolar material 1	352					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTTTCATAATCAGCTTCGTGA	0.348			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	dbGAP		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													94.0	88.0	90.0					8																	17808216		1842	4098	5940	-	-	-	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1054C>G	8.37:g.17808216C>G	ENSP00000431099:p.Gln352Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.Q352E	ENST00000519253.1	37	c.1054		8	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289733	0.59976	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.26223	3.5;2.63;1.76;1.75;3.5;3.26	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.27053	0.805	0.80722	D	1	D;P;D;D	0.64830	0.994;0.934;0.99;0.994	D;D;P;D	0.63283	0.913;0.909;0.875;0.913	T	0.03728	-1.1009	10	0.22109	T	0.4	-8.4269	13.4754	0.61306	0.0:0.9237:0.0:0.0763	.	352;391;352;352	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	E	352;391;391;391;352;352;352	ENSP00000327077:Q352E;ENSP00000428131:Q391E;ENSP00000428123:Q391E;ENSP00000429941:Q352E;ENSP00000431099:Q352E;ENSP00000430521:Q352E	ENSP00000327077:Q352E	Q	+	1	0	PCM1	17852496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.325000	0.79124	1.515000	0.48885	0.655000	0.94253	CAG	PCM1	-	NULL	ENSG00000078674		0.348	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	192	0.00	0	C	NM_006197		17808216	17808216	+1	no_errors	ENST00000325083	ensembl	human	known	69_37n	missense	121	12.95	18	SNP	1.000	G
PCNXL2	80003	genome.wustl.edu	37	1	233136210	233136210	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:233136210C>T	ENST00000258229.9	-	30	5403	c.5169G>A	c.(5167-5169)aaG>aaA	p.K1723K	PCNXL2_ENST00000344698.2_Silent_p.K375K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1723						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGACCACCTTCTTCTCGAAGG	0.627																																						dbGAP											0													62.0	64.0	63.0					1																	233136210		2015	4176	6191	-	-	-	SO:0001819	synonymous_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5169G>A	1.37:g.233136210C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.K1723	ENST00000258229.9	37	c.5169	CCDS44335.1	1																																																																																			PCNXL2	-	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000135749		0.627	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	117	0.00	0	C	NM_014801		233136210	233136210	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	silent	74	10.84	9	SNP	0.998	T
PCSK1	5122	genome.wustl.edu	37	5	95730639	95730639	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:95730639G>A	ENST00000311106.3	-	13	2050	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R558C	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	605					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGTACACACGAGGCTGCTTC	0.478																																						dbGAP											0													233.0	203.0	213.0					5																	95730639		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1813C>T	5.37:g.95730639G>A	ENSP00000308024:p.Arg605Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R605C	ENST00000311106.3	37	c.1813	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265855	0.80358	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.69306	-0.24;-0.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.927;0.992	T	0.79860	-0.1625	10	0.66056	D	0.02	-13.761	15.0004	0.71466	0.0:0.0:0.8575:0.1425	.	558;605	E9PHA1;P29120	.;NEC1_HUMAN	C	605;558	ENSP00000308024:R605C;ENSP00000421600:R558C	ENSP00000308024:R605C	R	-	1	0	PCSK1	95756395	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	3.359000	0.52292	2.871000	0.98454	0.655000	0.94253	CGT	PCSK1	-	NULL	ENSG00000175426		0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	429	0.00	0	G	NM_000439		95730639	95730639	-1	no_errors	ENST00000311106	ensembl	human	known	69_37n	missense	205	13.14	31	SNP	0.925	A
PCSK5	5125	genome.wustl.edu	37	9	78790033	78790033	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:78790033G>C	ENST00000545128.1	+	14	2426	c.1888G>C	c.(1888-1890)Gag>Cag	p.E630Q	PCSK5_ENST00000376752.4_Missense_Mutation_p.E630Q|PCSK5_ENST00000376767.3_Missense_Mutation_p.E630Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	630					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						CTATGGCACAGAGGATTATGC	0.522																																						dbGAP											0													106.0	102.0	103.0					9																	78790033		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1888G>C	9.37:g.78790033G>C	ENSP00000446280:p.Glu630Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	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_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.E630Q	ENST00000545128.1	37	c.1888	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.127548	0.94473	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.70282	0.73;-0.47;0.56;1.58	5.92	5.92	0.95590	.	0.079117	0.51477	D	0.000085	T	0.62134	0.2403	N	0.21448	0.665	0.58432	D	0.999991	B;B	0.23540	0.003;0.087	B;B	0.25987	0.009;0.065	T	0.54735	-0.8249	10	0.30854	T	0.27	-28.7556	20.3343	0.98733	0.0:0.0:1.0:0.0	.	630;630	Q92824-2;B1AMG5	.;.	Q	630;333;630;630;630;303	ENSP00000446280:E630Q;ENSP00000365958:E630Q;ENSP00000365943:E630Q;ENSP00000411654:E303Q	ENSP00000365943:E630Q	E	+	1	0	PCSK5	77979853	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	8.666000	0.91149	2.822000	0.97130	0.650000	0.86243	GAG	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000099139		0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		136	0.00	0	G			78790033	78790033	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	65	17.50	14	SNP	1.000	C
PDDC1	347862	genome.wustl.edu	37	11	774048	774048	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:774048G>C	ENST00000319863.8	-	3	228	c.207C>G	c.(205-207)ctC>ctG	p.L69L	PDDC1_ENST00000526325.1_Silent_p.L69L|PDDC1_ENST00000524550.1_Silent_p.L69L|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Silent_p.L69L|PDDC1_ENST00000442059.2_Silent_p.L19L	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	69						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAAGCCTTGAGGCGGAAGT	0.627																																						dbGAP											0													77.0	75.0	76.0					11																	774048		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.207C>G	11.37:g.774048G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	pfam_ThiJ/PfpI	p.L69	ENST00000319863.8	37	c.207	CCDS7713.1	11																																																																																			PDDC1	-	NULL	ENSG00000177225		0.627	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDDC1	HGNC	protein_coding	OTTHUMT00000258051.2	79	0.00	0	G	NM_182612		774048	774048	-1	no_errors	ENST00000397472	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.994	C
PDE3A	5139	genome.wustl.edu	37	12	20766419	20766419	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:20766419G>A	ENST00000359062.3	+	3	1094	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	352					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.E352K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGTCATGGGCGAGGCCCACGG	0.532																																						dbGAP											1	Substitution - Missense(1)	lung(1)											98.0	89.0	92.0					12																	20766419		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1054G>A	12.37:g.20766419G>A	ENSP00000351957:p.Glu352Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E352K	ENST00000359062.3	37	c.1054	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.518386	0.96416	.	.	ENSG00000172572	ENST00000359062	T	0.56611	0.45	5.86	5.86	0.93980	.	49.120600	0.00166	N	0.000000	T	0.80003	0.4544	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64162	-0.6472	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	352	Q14432	PDE3A_HUMAN	K	352	ENSP00000351957:E352K	ENSP00000351957:E352K	E	+	1	0	PDE3A	20657686	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GAG	PDE3A	-	NULL	ENSG00000172572		0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	62	0.00	0	G			20766419	20766419	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	A
PDIA3	2923	genome.wustl.edu	37	15	44053674	44053674	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:44053674C>G	ENST00000300289.5	+	4	565	c.417C>G	c.(415-417)ctC>ctG	p.L139L	PDIA3_ENST00000538521.1_Silent_p.L119L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	139					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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CAGTGCCTCTCAGGACTGAGG	0.363																																						dbGAP											0													55.0	61.0	59.0					15																	44053674		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.417C>G	15.37:g.44053674C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.L139	ENST00000300289.5	37	c.417	CCDS10101.1	15																																																																																			PDIA3	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000167004		0.363	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3	74	0.00	0	C	NM_005313		44053674	44053674	+1	no_errors	ENST00000300289	ensembl	human	known	69_37n	silent	33	26.67	12	SNP	0.896	G
PELI1	57162	genome.wustl.edu	37	2	64322141	64322141	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:64322141G>A	ENST00000358912.4	-	7	1394	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	318					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCCCAGTTATGATAGCCATGT	0.433																																						dbGAP											0													240.0	207.0	218.0					2																	64322141		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.952C>T	2.37:g.64322141G>A	ENSP00000351789:p.His318Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	pfam_Pellino	p.H318Y	ENST00000358912.4	37	c.952	CCDS1876.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102306	0.76983	.	.	ENSG00000197329	ENST00000358912	T	0.46819	0.86	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.80508	2.5	0.80722	D	1	D	0.63880	0.993	D	0.63488	0.915	T	0.72969	-0.4130	10	0.66056	D	0.02	-14.5144	20.2187	0.98312	0.0:0.0:1.0:0.0	.	318	Q96FA3	PELI1_HUMAN	Y	318	ENSP00000351789:H318Y	ENSP00000351789:H318Y	H	-	1	0	PELI1	64175645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	CAT	PELI1	-	pfam_Pellino	ENSG00000197329		0.433	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI1	HGNC	protein_coding	OTTHUMT00000251686.1	222	0.45	1	G	NM_020651		64322141	64322141	-1	no_errors	ENST00000358912	ensembl	human	known	69_37n	missense	118	11.28	15	SNP	1.000	A
PFN1	5216	genome.wustl.edu	37	17	4849196	4849196	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:4849196C>T	ENST00000225655.5	-	3	1041	c.422G>A	c.(421-423)tGa>tAa	p.*141*	PFN1_ENST00000574872.1_Silent_p.*105*	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	0					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAGACGAGGTCAGTACTGGGA	0.522																																						dbGAP											0													99.0	70.0	80.0					17																	4849196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.422G>A	17.37:g.4849196C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y44	Silent	SNP	pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin_mammal	p.*141	ENST00000225655.5	37	c.422	CCDS11061.1	17																																																																																			PFN1	-	NULL	ENSG00000108518		0.522	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN1	HGNC	protein_coding	OTTHUMT00000216853.1	146	0.68	1	C	NM_005022		4849196	4849196	-1	no_errors	ENST00000225655	ensembl	human	known	69_37n	silent	68	13.92	11	SNP	1.000	T
PGM2	55276	genome.wustl.edu	37	4	37848851	37848851	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:37848851G>A	ENST00000381967.4	+	10	1317	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	PGM2_ENST00000544359.1_Missense_Mutation_p.G267E|PGM2_ENST00000537241.1_Missense_Mutation_p.G246E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	406					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AAGTGGATGGGAAACAGAGCC	0.378																																						dbGAP											0													96.0	90.0	92.0					4																	37848851		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1217G>A	4.37:g.37848851G>A	ENSP00000371393:p.Gly406Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.G406E	ENST00000381967.4	37	c.1217	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.213752	0.95069	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.46063	0.88;0.88;0.88	5.96	5.96	0.96718	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.046063	0.85682	D	0.000000	T	0.75838	0.3904	H	0.94925	3.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70487	0.94;0.969	T	0.81805	-0.0764	10	0.87932	D	0	-19.779	20.422	0.99049	0.0:0.0:1.0:0.0	.	406;267	Q96G03;B4E0G8	PGM2_HUMAN;.	E	406;267;246	ENSP00000371393:G406E;ENSP00000438025:G267E;ENSP00000437342:G246E	ENSP00000371393:G406E	G	+	2	0	PGM2	37525246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.776000	0.99001	2.832000	0.97577	0.655000	0.94253	GGA	PGM2	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000169299		0.378	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	210	0.47	1	G	NM_018290		37848851	37848851	+1	no_errors	ENST00000381967	ensembl	human	known	69_37n	missense	139	12.03	19	SNP	1.000	A
PHAX	51808	genome.wustl.edu	37	5	125944095	125944095	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:125944095G>A	ENST00000297540.4	+	3	1445	c.750G>A	c.(748-750)gtG>gtA	p.V250V		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	250	Necessary for interaction with CBP80. {ECO:0000250}.|Sufficient for poly U RNA-binding.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CCCGAGTAGTGAGGATTATTG	0.368																																						dbGAP											0													151.0	155.0	154.0					5																	125944095		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.750G>A	5.37:g.125944095G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8W1	Silent	SNP	pfam_PHAX_RNA-binding_domain	p.V250	ENST00000297540.4	37	c.750	CCDS4138.1	5																																																																																			PHAX	-	pfam_PHAX_RNA-binding_domain	ENSG00000164902		0.368	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1	291	0.00	0	G	NM_032177		125944095	125944095	+1	no_errors	ENST00000297540	ensembl	human	known	69_37n	silent	146	16.09	28	SNP	0.999	A
PHF19	26147	genome.wustl.edu	37	9	123620360	123620360	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:123620360G>C	ENST00000373896.3	-	15	1857	c.1605C>G	c.(1603-1605)ctC>ctG	p.L535L	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Silent_p.L326L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	535					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGATGACTTGAGGTGGGACA	0.577																																						dbGAP											0													178.0	159.0	165.0					9																	123620360		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1605C>G	9.37:g.123620360G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.L535	ENST00000373896.3	37	c.1605	CCDS35116.1	9																																																																																			PHF19	-	NULL	ENSG00000119403		0.577	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3	167	0.00	0	G	XM_045308		123620360	123620360	-1	no_errors	ENST00000373896	ensembl	human	known	69_37n	silent	95	12.84	14	SNP	1.000	C
PHF19	26147	genome.wustl.edu	37	9	123631514	123631514	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:123631514G>C	ENST00000373896.3	-	6	812	c.560C>G	c.(559-561)tCg>tGg	p.S187W	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	187					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGATGGGGCGAGTCCCACTC	0.692																																						dbGAP											0													31.0	27.0	28.0					9																	123631514		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.560C>G	9.37:g.123631514G>C	ENSP00000363003:p.Ser187Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.S187W	ENST00000373896.3	37	c.560	CCDS35116.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.086339	0.94100	.	.	ENSG00000119403	ENST00000544082;ENST00000373896	T	0.18338	2.22	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.129666	0.53938	D	0.000056	T	0.37100	0.0991	L	0.55481	1.735	0.80722	D	1	D	0.60575	0.988	D	0.64877	0.93	T	0.06373	-1.0830	10	0.62326	D	0.03	-10.4689	17.8054	0.88600	0.0:0.0:1.0:0.0	.	187	Q5T6S3	PHF19_HUMAN	W	187	ENSP00000363003:S187W	ENSP00000363003:S187W	S	-	2	0	PHF19	122671335	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.803000	0.85983	2.523000	0.85059	0.305000	0.20034	TCG	PHF19	-	superfamily_Znf_FYVE_PHD	ENSG00000119403		0.692	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3	31	0.00	0	G	XM_045308		123631514	123631514	-1	no_errors	ENST00000373896	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	C
PHF20L1	51105	genome.wustl.edu	37	8	133837548	133837548	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:133837548G>C	ENST00000395386.2	+	14	1975	c.1676G>C	c.(1675-1677)aGa>aCa	p.R559T	CTC-137K3.1_ENST00000602328.1_RNA|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R534T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	559	Lys-rich.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			agagagaagagagacaaagaT	0.333																																						dbGAP											0													18.0	18.0	18.0					8																	133837548		1997	4210	6207	-	-	-	SO:0001583	missense	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1676G>C	8.37:g.133837548G>C	ENSP00000378784:p.Arg559Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant	p.R559T	ENST00000395386.2	37	c.1676	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534045	0.45073	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.33438	1.41;1.41	5.66	3.87	0.44632	.	0.155351	0.24169	U	0.040909	T	0.17450	0.0419	N	0.19112	0.55	0.80722	D	1	B;B	0.33238	0.403;0.281	B;B	0.30855	0.121;0.057	T	0.06023	-1.0850	10	0.39692	T	0.17	-18.0398	7.711	0.28677	0.1848:0.0:0.8152:0.0	.	534;559	F8W9L8;A8MW92	.;P20L1_HUMAN	T	559;534	ENSP00000378784:R559T;ENSP00000378788:R534T	ENSP00000378784:R559T	R	+	2	0	PHF20L1	133906730	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.180000	0.42537	1.401000	0.46761	0.655000	0.94253	AGA	PHF20L1	-	NULL	ENSG00000129292		0.333	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	37	0.00	0	G	NM_016018		133837548	133837548	+1	no_errors	ENST00000395386	ensembl	human	putative	69_37n	missense	24	17.24	5	SNP	1.000	C
PHKA2	5256	genome.wustl.edu	37	X	18911535	18911535	+	3'UTR	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:18911535G>C	ENST00000379942.4	-	0	4441				PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGGGGGACAGAAGGTTCCCA	0.512																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.*68C>G	X.37:g.18911535G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	RNA	SNP	-	NULL	ENST00000379942.4	37	NULL	CCDS14190.1	X																																																																																			PHKA2	-	-	ENSG00000044446		0.512	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	73	0.00	0	G	NM_000292		18911535	18911535	-1	no_errors	ENST00000469485	ensembl	human	known	69_37n	rna	22	37.14	13	SNP	0.000	C
PIEZO1	9780	genome.wustl.edu	37	16	88798808	88798808	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:88798808C>G	ENST00000301015.9	-	21	3172	c.2926G>C	c.(2926-2928)Gac>Cac	p.D976H	RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	976					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						AGATCCTGGTCCAGCTGCTGG	0.652																																						dbGAP											0													21.0	20.0	20.0					16																	88798808		691	1584	2275	-	-	-	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2926G>C	16.37:g.88798808C>G	ENSP00000301015:p.Asp976His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.D976H	ENST00000301015.9	37	c.2926	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.662740|4.662740	0.88251|0.88251	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000301015|ENST00000451779	T|.	0.46451|.	0.87|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.110728|.	0.64402|.	D|.	0.000012|.	T|T	0.79707|0.79707	0.4492|0.4492	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	B|.	0.30741|.	0.293|.	B|.	0.30646|.	0.118|.	D|D	0.83445|0.83445	0.0045|0.0045	10|5	0.87932|.	D|.	0|.	-43.1483|-43.1483	16.4352|16.4352	0.83873|0.83873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	976|.	Q92508|.	PIEZ1_HUMAN|.	H|A	976|921	ENSP00000301015:D976H|.	ENSP00000301015:D976H|.	D|G	-|-	1|2	0|0	FAM38A|FAM38A	87326309|87326309	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.923000|0.923000	0.55619|0.55619	5.289000|5.289000	0.65656|0.65656	2.297000|2.297000	0.77311|0.77311	0.282000|0.282000	0.19409|0.19409	GAC|GGA	PIEZO1	-	NULL	ENSG00000103335		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	10	0.00	0	C	NM_014745		88798808	88798808	-1	no_errors	ENST00000301015	ensembl	human	novel	69_37n	missense	8	52.94	9	SNP	1.000	G
PIGB	9488	genome.wustl.edu	37	15	55643018	55643018	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:55643018G>C	ENST00000164305.5	+	10	1536	c.1245G>C	c.(1243-1245)atG>atC	p.M415I	CCPG1_ENST00000563294.1_5'Flank|PIGB_ENST00000539642.1_Missense_Mutation_p.M220I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	415					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTGATGTCATGAGTCATATTC	0.338																																						dbGAP											0													137.0	129.0	132.0					15																	55643018		1829	4078	5907	-	-	-	SO:0001583	missense	0			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1245G>C	15.37:g.55643018G>C	ENSP00000164305:p.Met415Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FF9|Q8WVN7	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.M415I	ENST00000164305.5	37	c.1245		15	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998960	0.74818	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.64438	-0.1;-0.1	6.08	6.08	0.98989	.	0.078410	0.85682	D	0.000000	T	0.76097	0.3940	M	0.68728	2.09	0.80722	D	1	P	0.50943	0.94	P	0.58620	0.842	T	0.73000	-0.4120	10	0.42905	T	0.14	-22.6397	19.6603	0.95864	0.0:0.0:1.0:0.0	.	415	Q92521	PIGB_HUMAN	I	415;220	ENSP00000164305:M415I;ENSP00000438963:M220I	ENSP00000164305:M415I	M	+	3	0	PIGB	53430310	1.000000	0.71417	0.999000	0.59377	0.441000	0.31987	7.002000	0.76304	2.894000	0.99253	0.591000	0.81541	ATG	PIGB	-	pfam_GPI_mannosylTrfase	ENSG00000069943		0.338	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PIGB	HGNC	protein_coding	OTTHUMT00000419687.1	257	0.00	0	G	NM_004855		55643018	55643018	+1	no_errors	ENST00000164305	ensembl	human	known	69_37n	missense	103	17.60	22	SNP	1.000	C
PIGT	51604	genome.wustl.edu	37	20	44044963	44044963	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:44044963C>G	ENST00000279036.6	+	1	247	c.167C>G	c.(166-168)tCg>tGg	p.S56W	PIGT_ENST00000545755.1_5'UTR|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Missense_Mutation_p.S56W|PIGT_ENST00000372689.5_Missense_Mutation_p.S56W|PIGT_ENST00000543458.2_Missense_Mutation_p.S56W|PIGT_ENST00000341555.5_Missense_Mutation_p.S56W	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	56					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CGCTGGGATTCGGAGCTTCAG	0.637																																						dbGAP											0													15.0	15.0	15.0					20																	44044963		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.167C>G	20.37:g.44044963C>G	ENSP00000279036:p.Ser56Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_Gpi16	p.S56W	ENST00000279036.6	37	c.167	CCDS13353.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.58|19.58	3.854524|3.854524	0.71719|0.71719	.|.	.|.	ENSG00000124155|ENSG00000124155	ENST00000432270|ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000341555	.|T;T;T;T;T	.|0.47528	.|0.91;0.91;0.84;0.91;0.84	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.118609	.|0.56097	.|D	.|0.000021	T|T	0.62417|0.62417	0.2426|0.2426	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.986;0.999;0.995;0.993	.|D;D;D;D;P	.|0.69654	.|0.94;0.917;0.965;0.935;0.827	T|T	0.56577|0.56577	-0.7956|-0.7956	5|10	.|0.37606	.|T	.|0.19	-15.4756|-15.4756	15.3277|15.3277	0.74179|0.74179	0.1399:0.8601:0.0:0.0|0.1399:0.8601:0.0:0.0	.|.	.|56;56;56;56;56	.|Q969N2-4;B7Z3N1;Q969N2-2;B7Z7C5;Q969N2	.|.;.;.;.;PIGT_HUMAN	L|W	47|56	.|ENSP00000441577:S56W;ENSP00000361774:S56W;ENSP00000279035:S56W;ENSP00000279036:S56W;ENSP00000343783:S56W	.|ENSP00000279035:S56W	F|S	+|+	3|2	2|0	PIGT|PIGT	43478377|43478377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.913000|4.913000	0.63341|0.63341	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCG	PIGT	-	pfam_Gpi16	ENSG00000124155		0.637	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	42	0.00	0	C	NM_015937		44044963	44044963	+1	no_errors	ENST00000279036	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	160	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	63	22.89	19	SNP	1.000	G
PIK3R2	5296	genome.wustl.edu	37	19	18273836	18273836	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:18273836C>T	ENST00000593731.1	+	10	1729	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S390L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	390	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)	TATGGCTTCTCAGAGCCACTC	0.592																																						dbGAP											0													126.0	98.0	108.0					19																	18273836		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1169C>T	19.37:g.18273836C>T	ENSP00000471914:p.Ser390Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EAT5|Q9UPH9	Missense_Mutation	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.S390L	ENST00000593731.1	37	c.1169	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269256	0.59540	.	.	ENSG00000105647	ENST00000222254	D	0.88664	-2.41	3.69	3.69	0.42338	SH2 motif (4);	0.131566	0.53938	D	0.000059	D	0.93239	0.7846	M	0.72894	2.215	0.80722	D	1	D	0.64830	0.994	D	0.68483	0.958	D	0.94245	0.7488	10	0.87932	D	0	-11.6834	15.323	0.74139	0.0:1.0:0.0:0.0	.	390	O00459	P85B_HUMAN	L	390	ENSP00000222254:S390L	ENSP00000222254:S390L	S	+	2	0	PIK3R2	18134836	1.000000	0.71417	0.981000	0.43875	0.013000	0.08279	7.632000	0.83247	2.015000	0.59207	0.561000	0.74099	TCA	PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85	ENSG00000105647		0.592	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	138	0.00	0	C	NM_005027		18273836	18273836	+1	no_errors	ENST00000222254	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	1.000	T
PIP5K1A	8394	genome.wustl.edu	37	1	151214635	151214635	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:151214635C>G	ENST00000368888.4	+	13	1822	c.1400C>G	c.(1399-1401)tCa>tGa	p.S467*	PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000409426.1_Nonsense_Mutation_p.S455*|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000441902.2_Nonsense_Mutation_p.S427*	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	467					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTCTGGCTCATCTTTCTCT	0.478																																					Pancreas(80;36 1443 2325 16095 21302)	dbGAP											0													178.0	190.0	186.0					1																	151214635		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1400C>G	1.37:g.151214635C>G	ENSP00000357883:p.Ser467*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q0|B4DIN0|Q99754|Q99756	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.S467*	ENST00000368888.4	37	c.1400	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.080256	0.99059	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368888	.	.	.	4.38	4.38	0.52667	.	0.926299	0.09274	N	0.824720	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.1288	0.65240	0.0:1.0:0.0:0.0	.	.	.	.	X	454;455;427;467	.	ENSP00000271663:S454X	S	+	2	0	PIP5K1A	149481259	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	3.090000	0.50191	2.448000	0.82819	0.557000	0.71058	TCA	PIP5K1A	-	NULL	ENSG00000143398		0.478	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	138	0.00	0	C	NM_003557		151214635	151214635	+1	no_errors	ENST00000368888	ensembl	human	known	69_37n	nonsense	106	11.67	14	SNP	0.978	G
PLAG1	5324	genome.wustl.edu	37	8	57079234	57079234	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:57079234C>G	ENST00000316981.3	-	5	1550	c.1071G>C	c.(1069-1071)gaG>gaC	p.E357D	PLAG1_ENST00000429357.2_Missense_Mutation_p.E357D|PLAG1_ENST00000423799.2_Missense_Mutation_p.E275D	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	357	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCAGGTAACTCTCAATTTCCC	0.443			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	dbGAP		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													118.0	114.0	116.0					8																	57079234		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1071G>C	8.37:g.57079234C>G	ENSP00000325546:p.Glu357Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E357D	ENST00000316981.3	37	c.1071	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	C	8.747	0.920386	0.17982	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.13657	2.57;3.29;2.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.40543	1.245	0.54753	D	0.999983	D	0.63880	0.993	D	0.67548	0.952	T	0.08186	-1.0734	10	0.13108	T	0.6	-18.3053	7.3651	0.26768	0.0:0.7994:0.0:0.2006	.	357	Q6DJT9	PLAG1_HUMAN	D	357;275;357	ENSP00000325546:E357D;ENSP00000404067:E275D;ENSP00000416537:E357D	ENSP00000325546:E357D	E	-	3	2	PLAG1	57241788	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.715000	0.54897	2.631000	0.89168	0.467000	0.42956	GAG	PLAG1	-	NULL	ENSG00000181690		0.443	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	170	0.00	0	C	NM_002655		57079234	57079234	-1	no_errors	ENST00000316981	ensembl	human	known	69_37n	missense	84	14.29	14	SNP	1.000	G
PLBD1	79887	genome.wustl.edu	37	12	14688648	14688648	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:14688648G>A	ENST00000240617.5	-	6	1441	c.789C>T	c.(787-789)ttC>ttT	p.F263F	RP11-502N13.2_ENST00000544122.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	263					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTATGACGTTGAAGTCCCAGT	0.428																																						dbGAP											0													172.0	150.0	158.0					12																	14688648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.789C>T	12.37:g.14688648G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4E9|Q9BVV3|Q9H625	Silent	SNP	pfam_PLipase_B-like	p.F263	ENST00000240617.5	37	c.789	CCDS31751.1	12																																																																																			PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.428	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	240	0.00	0	G	NM_024829		14688648	14688648	-1	no_errors	ENST00000240617	ensembl	human	known	69_37n	silent	168	12.04	23	SNP	1.000	A
PLCXD3	345557	genome.wustl.edu	37	5	41313815	41313815	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:41313815G>C	ENST00000377801.3	-	3	944	c.870C>G	c.(868-870)atC>atG	p.I290M	PLCXD3_ENST00000328457.3_Missense_Mutation_p.I290M			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	290					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGACAATATTGATGCCACTCT	0.448																																						dbGAP											0													110.0	99.0	103.0					5																	41313815		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.870C>G	5.37:g.41313815G>C	ENSP00000367032:p.Ile290Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.I290M	ENST00000377801.3	37	c.870	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243958	0.39697	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.170864	0.51477	D	0.000088	T	0.43545	0.1252	N	0.14661	0.345	0.47214	D	0.999355	B	0.34015	0.435	B	0.36289	0.221	T	0.35400	-0.9790	9	0.26408	T	0.33	-18.6523	16.2454	0.82441	0.0:0.1415:0.8585:0.0	.	290	Q63HM9	PLCX3_HUMAN	M	290	.	ENSP00000333751:I290M	I	-	3	3	PLCXD3	41349572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.860000	0.48372	2.678000	0.91216	0.655000	0.94253	ATC	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182836		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	141	0.00	0	G	XM_293875		41313815	41313815	-1	no_errors	ENST00000328457	ensembl	human	known	69_37n	missense	102	12.07	14	SNP	1.000	C
PLEKHA5	54477	genome.wustl.edu	37	12	19422772	19422772	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:19422772G>T	ENST00000299275.6	+	9	786	c.780G>T	c.(778-780)atG>atT	p.M260I	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.M260I|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.M260I|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.M260I|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.M260I|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.M18I|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.M260I|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.M152I|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.M152I|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.M260I	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	260	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGTTGTGGATGAAAGCCATGT	0.393																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													108.0	102.0	104.0					12																	19422772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.780G>T	12.37:g.19422772G>T	ENSP00000299275:p.Met260Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.M260I	ENST00000299275.6	37	c.780	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973645	0.34848	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96;3.19;2.96;2.96;2.96;2.96	4.97	4.97	0.65823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.080163	0.85682	D	0.000000	T	0.10337	0.0253	N	0.02721	-0.515	0.42430	D	0.99267	B;P;P;B;P;P	0.46277	0.027;0.831;0.612;0.092;0.875;0.848	B;P;P;B;P;P	0.62560	0.146;0.806;0.904;0.196;0.838;0.75	T	0.16335	-1.0406	10	0.02654	T	1	-18.6815	16.5979	0.84801	0.0:0.0:1.0:0.0	.	260;152;152;260;260;260	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	I	260;260;260;260;260;260;260;260;18;260;152;152;152	ENSP00000325155:M260I;ENSP00000347560:M260I;ENSP00000352104:M260I;ENSP00000311239:M260I;ENSP00000404296:M260I;ENSP00000299275:M260I;ENSP00000440611:M18I;ENSP00000439673:M260I;ENSP00000400411:M152I;ENSP00000439837:M152I;ENSP00000440371:M152I	ENSP00000299275:M260I	M	+	3	0	PLEKHA5	19314039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.623000	0.90957	2.575000	0.86900	0.585000	0.79938	ATG	PLEKHA5	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000052126		0.393	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	155	0.00	0	G	NM_019012		19422772	19422772	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	missense	93	13.08	14	SNP	1.000	T
PLEKHM1P	440456	genome.wustl.edu	37	17	62820979	62820979	+	RNA	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:62820979C>T	ENST00000582986.1	-	0	188				RNU7-115P_ENST00000516433.1_RNA	NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CCACCAGCTTCTTCTTGATGA	0.507																																						dbGAP											0																																										-	-	-			0					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62820979C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-	ENSG00000214176		0.507	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	84	0.00	0	C	NR_024386		62820979	62820979	-1	no_errors	ENST00000397718	ensembl	human	known	69_37n	rna	85	10.42	10	SNP	1.000	T
PLOD2	5352	genome.wustl.edu	37	3	145794663	145794663	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:145794663G>C	ENST00000360060.3	-	14	1697	c.1520C>G	c.(1519-1521)tCt>tGt	p.S507C	PLOD2_ENST00000282903.5_Missense_Mutation_p.S528C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.S188C|PLOD2_ENST00000494950.1_Missense_Mutation_p.S473C	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	507					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATGTCTATTAGAAATGTACAT	0.299																																						dbGAP											0													72.0	77.0	76.0					3																	145794663		2203	4287	6490	-	-	-	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1520C>G	3.37:g.145794663G>C	ENSP00000353170:p.Ser507Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.S528C	ENST00000360060.3	37	c.1583	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288268	0.80803	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.84944	-1.92;-1.92;-1.91;-1.92	5.12	5.12	0.69794	.	0.100209	0.64402	D	0.000003	D	0.86016	0.5832	N	0.20328	0.56	0.49213	D	0.999768	P;D;D;P	0.71674	0.668;0.998;0.977;0.95	B;D;P;P	0.64687	0.28;0.928;0.754;0.592	D	0.85052	0.0929	10	0.29301	T	0.29	-8.548	18.6021	0.91250	0.0:0.0:1.0:0.0	.	473;507;528;188	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	C	188;528;507;473	ENSP00000419354:S188C;ENSP00000282903:S528C;ENSP00000353170:S507C;ENSP00000420094:S473C	ENSP00000282903:S528C	S	-	2	0	PLOD2	147277353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.769000	0.98969	2.391000	0.81399	0.650000	0.86243	TCT	PLOD2	-	NULL	ENSG00000152952		0.299	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	152	0.00	0	G	NM_000935		145794663	145794663	-1	no_errors	ENST00000282903	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	1.000	C
PLXNA2	5362	genome.wustl.edu	37	1	208213056	208213056	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:208213056C>T	ENST00000367033.3	-	24	5167	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1470					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGGCCCTTCTCCATCTGCT	0.617																																						dbGAP											0													97.0	88.0	91.0					1																	208213056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4410G>A	1.37:g.208213056C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1470	ENST00000367033.3	37	c.4410	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.617	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	133	0.75	1	C	NM_025179		208213056	208213056	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	silent	85	11.46	11	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94697788	94697788	+	Missense_Mutation	SNP	G	G	C	rs536797204		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:94697788G>C	ENST00000258526.4	+	30	4812	c.4563G>C	c.(4561-4563)ttG>ttC	p.L1521F	PLXNC1_ENST00000547057.1_Missense_Mutation_p.L568F|PLXNC1_ENST00000545312.1_Missense_Mutation_p.L260F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1521					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGTGGCCTTGACAGAAATTT	0.289																																						dbGAP											0													34.0	37.0	36.0					12																	94697788		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4563G>C	12.37:g.94697788G>C	ENSP00000258526:p.Leu1521Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.L1521F	ENST00000258526.4	37	c.4563	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395039	0.62066	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.23348	1.91;1.91;1.91	5.85	5.85	0.93711	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.61926	-0.6962	10	0.72032	D	0.01	.	14.3314	0.66559	0.0707:0.0:0.9293:0.0	.	568;1521	B4DHQ7;O60486	.;PLXC1_HUMAN	F	1521;568;260	ENSP00000258526:L1521F;ENSP00000446720:L568F;ENSP00000439225:L260F	ENSP00000258526:L1521F	L	+	3	2	PLXNC1	93221919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.311000	0.43717	2.762000	0.94881	0.650000	0.86243	TTG	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000136040		0.289	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	82	0.00	0	G			94697788	94697788	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	1.000	C
PMAIP1	5366	genome.wustl.edu	37	18	57570023	57570023	+	3'UTR	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:57570023G>C	ENST00000316660.6	+	0	433				PMAIP1_ENST00000269518.9_Missense_Mutation_p.K118N	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				TCCTTCAAAAGAGTTTTCTCA	0.433																																						dbGAP											0													31.0	33.0	33.0					18																	57570023		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.*38G>C	18.37:g.57570023G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4T7|Q8N589	Missense_Mutation	SNP	NULL	p.K118N	ENST00000316660.6	37	c.354	CCDS11975.1	18	.	.	.	.	.	.	.	.	.	.	G	9.392	1.075804	0.20227	.	.	ENSG00000141682	ENST00000269518	.	.	.	4.78	-9.55	0.00569	.	2.201200	0.02276	N	0.068940	T	0.23846	0.0577	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.15983	-1.0418	8	0.87932	D	0	.	0.7781	0.01036	0.3482:0.2736:0.2135:0.1647	.	118	Q8N589	.	N	118	.	ENSP00000269518:K118N	K	+	3	2	PMAIP1	55721003	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-1.695000	0.01913	-2.005000	0.00959	-0.136000	0.14681	AAG	PMAIP1	-	NULL	ENSG00000141682		0.433	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMAIP1	HGNC	protein_coding	OTTHUMT00000256137.1	87	0.00	0	G	NM_021127		57570023	57570023	+1	no_errors	ENST00000269518	ensembl	human	novel	69_37n	missense	45	25.00	15	SNP	0.000	C
PNMA5	114824	genome.wustl.edu	37	X	152159224	152159224	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:152159224C>G	ENST00000439251.1	-	2	1357	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	PNMA5_ENST00000535214.1_Missense_Mutation_p.E307Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.E307Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.E307Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	307					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGAGCTCCAGCTTGCCC	0.537																																						dbGAP											0													34.0	36.0	35.0					X																	152159224		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.919G>C	X.37:g.152159224C>G	ENSP00000388850:p.Glu307Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.E307Q	ENST00000439251.1	37	c.919	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	c	4.868	0.161311	0.09287	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	3.07	-1.31	0.09230	.	.	.	.	.	T	0.03520	0.0101	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44757	-0.9307	9	0.17369	T	0.5	-1.5238	1.8491	0.03165	0.1964:0.316:0.3596:0.128	.	307	Q96PV4	PNMA5_HUMAN	Q	307	ENSP00000354834:E307Q;ENSP00000445775:E307Q;ENSP00000388850:E307Q;ENSP00000392342:E307Q	ENSP00000354834:E307Q	E	-	1	0	PNMA5	151909880	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.189000	0.03061	-0.425000	0.07371	-0.880000	0.02959	GAG	PNMA5	-	NULL	ENSG00000198883		0.537	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	32	0.00	0	C	NM_052926		152159224	152159224	-1	no_errors	ENST00000361887	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.000	G
PNMA3	29944	genome.wustl.edu	37	X	152226004	152226004	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:152226004G>A	ENST00000370264.4	+	1	618	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_ENST00000447306.1_Missense_Mutation_p.E198K|PNMA3_ENST00000370265.4_Missense_Mutation_p.E198K			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577																																						dbGAP											0													63.0	62.0	62.0					X																	152226004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.592G>A	X.37:g.152226004G>A	ENSP00000359286:p.Glu198Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E198K	ENST00000370264.4	37	c.592	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676616	0.47886	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.14144	2.53;2.53;2.53	1.98	1.98	0.26296	.	.	.	.	.	T	0.30166	0.0756	M	0.73430	2.235	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.03795	-1.1003	9	0.62326	D	0.03	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	198	Q9UL41	PNMA3_HUMAN	K	198	ENSP00000359288:E198K;ENSP00000407642:E198K;ENSP00000359286:E198K	ENSP00000359286:E198K	E	+	1	0	PNMA3	151976660	0.076000	0.21285	0.005000	0.12908	0.005000	0.04900	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GAG	PNMA3	-	NULL	ENSG00000183837		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	57	0.00	0	G	NM_013364		152226004	152226004	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	missense	40	12.50	6	SNP	0.005	A
POLE3	54107	genome.wustl.edu	37	9	116171214	116171214	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:116171214C>T	ENST00000374171.4	-	5	491	c.321G>A	c.(319-321)aaG>aaA	p.K107K	C9orf43_ENST00000288462.4_5'Flank|POLE3_ENST00000374169.3_Silent_p.K107K|C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000479871.1_5'UTR	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	107					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	ctttgtccttcttcttttgct	0.478																																						dbGAP											0													239.0	173.0	195.0					9																	116171214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.321G>A	9.37:g.116171214C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Silent	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.K107	ENST00000374171.4	37	c.321	CCDS6795.1	9																																																																																			POLE3	-	superfamily_Histone-fold	ENSG00000148229		0.478	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	HGNC	protein_coding	OTTHUMT00000053730.1	975	0.00	0	C	NM_017443		116171214	116171214	-1	no_errors	ENST00000374169	ensembl	human	known	69_37n	silent	571	12.94	85	SNP	1.000	T
POLE3	54107	genome.wustl.edu	37	9	116172141	116172141	+	Intron	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:116172141C>T	ENST00000374171.4	-	4	323				C9orf43_ENST00000288462.4_5'Flank|POLE3_ENST00000374169.3_Intron|C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000479871.1_5'UTR	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit						DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	ATAAGTCCTTCCCTTCTCTGC	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.153-133G>A	9.37:g.116172141C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	RNA	SNP	-	NULL	ENST00000374171.4	37	NULL	CCDS6795.1	9																																																																																			POLE3	-	-	ENSG00000148229		0.453	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	HGNC	protein_coding	OTTHUMT00000053730.1	42	0.00	0	C	NM_017443		116172141	116172141	-1	no_errors	ENST00000479871	ensembl	human	known	69_37n	rna	20	13.04	3	SNP	0.013	T
POLR2D	5433	genome.wustl.edu	37	2	128605740	128605740	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:128605740C>G	ENST00000272645.4	-	4	426	c.370G>C	c.(370-372)Gat>Cat	p.D124H	POLR2D_ENST00000487079.1_5'UTR|RNU6-395P_ENST00000365662.1_RNA|POLR2D_ENST00000409955.1_Missense_Mutation_p.D92H|POLR2D_ENST00000409698.1_Missense_Mutation_p.D86H|RP5-935K16.1_ENST00000602909.1_lincRNA	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	124					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		AGCTCCTCATCTTCAAACCGT	0.463																																						dbGAP											0													106.0	101.0	103.0					2																	128605740		2203	4300	6503	-	-	-	SO:0001583	missense	0			U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.370G>C	2.37:g.128605740C>G	ENSP00000272645:p.Asp124His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LT4	Missense_Mutation	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.D124H	ENST00000272645.4	37	c.370	CCDS2151.1	2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013793	0.93404	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.63	5.63	0.86233	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.169866	0.50627	D	0.000113	D	0.86502	0.5948	M	0.93062	3.375	0.80722	D	1	P;D	0.71674	0.7;0.998	P;D	0.70487	0.557;0.969	D	0.89256	0.3594	9	0.87932	D	0	-5.8027	19.6913	0.96002	0.0:1.0:0.0:0.0	.	92;124	E9PHV4;O15514	.;RPB4_HUMAN	H	124;92;86	.	ENSP00000272645:D124H	D	-	1	0	POLR2D	128322210	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.466000	0.80914	2.654000	0.90174	0.561000	0.74099	GAT	POLR2D	-	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	ENSG00000144231		0.463	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2D	HGNC	protein_coding	OTTHUMT00000254388.3	265	0.00	0	C	NM_004805		128605740	128605740	-1	no_errors	ENST00000272645	ensembl	human	known	69_37n	missense	136	13.92	22	SNP	1.000	G
PON2	5445	genome.wustl.edu	37	7	95045539	95045539	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:95045539G>A	ENST00000222572.3	-	3	448				PON2_ENST00000536183.1_Intron|GS1-293C5.1_ENST00000608730.1_RNA|PON2_ENST00000433091.2_Intron			Q15165	PON2_HUMAN	paraoxonase 2						aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTGGGGAAGGAAGAAGACAC	0.383																																					GBM(42;803 823 13649 23368 31463)	dbGAP											0													117.0	108.0	111.0					7																	95045539		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.201+14C>T	7.37:g.95045539G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	RNA	SNP	-	NULL	ENST00000222572.3	37	NULL	CCDS5640.1	7																																																																																			PON2	-	-	ENSG00000105854		0.383	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	252	0.00	0	G	NM_000305		95045539	95045539	-1	no_errors	ENST00000469926	ensembl	human	known	69_37n	rna	114	14.29	19	SNP	0.000	A
PPFIA3	8541	genome.wustl.edu	37	19	49652005	49652005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:49652005C>T	ENST00000334186.4	+	25	3443	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.Q1023*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1032					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAAGAAAGTCAGACCCAGAT	0.597																																						dbGAP											0													73.0	66.0	68.0					19																	49652005		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3094C>T	19.37:g.49652005C>T	ENSP00000335614:p.Gln1032*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q1032*	ENST00000334186.4	37	c.3094	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	C	44	11.030140	0.99505	.	.	ENSG00000177380	ENST00000334186	.	.	.	4.89	4.89	0.63831	.	0.721483	0.11229	N	0.585887	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.4479	17.1919	0.86882	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000335614:Q1032X	Q	+	1	0	PPFIA3	54343817	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.029000	0.57253	2.427000	0.82271	0.655000	0.94253	CAG	PPFIA3	-	superfamily_SAM/pointed	ENSG00000177380		0.597	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	94	0.00	0	C	NM_003660		49652005	49652005	+1	no_errors	ENST00000334186	ensembl	human	known	69_37n	nonsense	57	24.00	18	SNP	1.000	T
PPFIBP1	8496	genome.wustl.edu	37	12	27809661	27809661	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:27809661G>C	ENST00000318304.8	+	10	1185	c.902G>C	c.(901-903)aGa>aCa	p.R301T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R270T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R270T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.R148T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	301					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATTGTTGATAGAGGTAAGAAG	0.308																																						dbGAP											0													50.0	53.0	52.0					12																	27809661		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.902G>C	12.37:g.27809661G>C	ENSP00000314724:p.Arg301Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R301T	ENST00000318304.8	37	c.902	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721310	0.30503	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.56611	0.45;0.78;0.85;1.33;1.51;1.84	5.05	3.23	0.37069	.	0.000000	0.32987	U	0.005420	T	0.55146	0.1902	M	0.70595	2.14	0.37547	D	0.91855	B;B;B;B	0.29508	0.052;0.159;0.21;0.246	B;B;B;B	0.39660	0.023;0.161;0.093;0.306	T	0.55724	-0.8096	10	0.34782	T	0.22	-8.4147	9.5839	0.39504	0.1653:0.0:0.8347:0.0	.	148;301;270;270	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	T	272;270;129;148;301;270;270	ENSP00000445822:R270T;ENSP00000444304:R129T;ENSP00000445425:R148T;ENSP00000314724:R301T;ENSP00000443442:R270T;ENSP00000228425:R270T	ENSP00000228425:R270T	R	+	2	0	PPFIBP1	27700928	1.000000	0.71417	0.977000	0.42913	0.089000	0.18198	1.769000	0.38522	0.640000	0.30582	-0.136000	0.14681	AGA	PPFIBP1	-	NULL	ENSG00000110841		0.308	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	135	0.00	0	G	NM_003622		27809661	27809661	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.991	C
PPFIBP2	8495	genome.wustl.edu	37	11	7650743	7650743	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:7650743G>C	ENST00000299492.4	+	10	1330	c.942G>C	c.(940-942)aaG>aaC	p.K314N	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.K202N|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.K156N|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.K171N	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	314					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAGGTAAAGGAGATTGTGA	0.478																																						dbGAP											0													143.0	140.0	141.0					11																	7650743		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.942G>C	11.37:g.7650743G>C	ENSP00000299492:p.Lys314Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K314N	ENST00000299492.4	37	c.942	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475188	0.26511	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.58	0.522	0.17053	.	0.218004	0.39615	N	0.001306	T	0.52741	0.1753	L	0.54323	1.7	0.37636	D	0.921877	B;B;B;B;B	0.16802	0.001;0.011;0.019;0.011;0.006	B;B;B;B;B	0.18871	0.005;0.011;0.023;0.007;0.006	T	0.34527	-0.9825	10	0.22706	T	0.39	-6.9933	5.0767	0.14634	0.2961:0.0:0.5671:0.1368	.	202;202;237;171;314	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	N	314;156;156;237;202;171	ENSP00000299492:K314N;ENSP00000436498:K156N;ENSP00000435469:K202N;ENSP00000437321:K171N	ENSP00000299492:K314N	K	+	3	2	PPFIBP2	7607319	1.000000	0.71417	0.920000	0.36463	0.516000	0.34256	1.638000	0.37165	-0.148000	0.11234	0.655000	0.94253	AAG	PPFIBP2	-	NULL	ENSG00000166387		0.478	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	268	0.00	0	G	NM_003621		7650743	7650743	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	missense	118	13.87	19	SNP	0.997	C
PPM1M	132160	genome.wustl.edu	37	3	52283691	52283691	+	3'UTR	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:52283691C>G	ENST00000296487.4	+	0	1509				PPM1M_ENST00000323588.4_Nonsense_Mutation_p.S253*|PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202*			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M						protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CACAGGTTCTCAAAGCTGGCC	0.537																																					NSCLC(151;810 2688 34365 49863)	dbGAP											0													67.0	57.0	60.0					3																	52283691		1568	3582	5150	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.*292C>G	3.37:g.52283691C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8J9|Q96DB8	Nonsense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S414*	ENST00000296487.4	37	c.1241		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.550299|5.550299	0.96501|0.96501	.|.	.|.	ENSG00000164088|ENSG00000164088	ENST00000443681|ENST00000457351;ENST00000409502;ENST00000323588	.|.	.|.	.|.	5.21|5.21	1.46|1.46	0.22682|0.22682	.|.	.|0.613030	.|0.14543	.|N	.|0.313188	T|.	0.59851|.	0.2224|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52571|.	-0.8558|.	4|.	.|0.34782	.|T	.|0.22	6.723|6.723	10.9361|10.9361	0.47247|0.47247	0.0:0.733:0.0:0.267|0.0:0.733:0.0:0.267	.|.	.|.	.|.	.|.	E|X	95|414;202;253	.|.	.|ENSP00000319894:S253X	Q|S	+|+	1|2	0|0	PPM1M|PPM1M	52258731|52258731	0.998000|0.998000	0.40836|0.40836	0.876000|0.876000	0.34364|0.34364	0.777000|0.777000	0.43975|0.43975	1.090000|1.090000	0.30902|0.30902	0.086000|0.086000	0.17137|0.17137	-1.166000|-1.166000	0.01754|0.01754	CAA|TCA	PPM1M	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000164088		0.537	PPM1M-001	KNOWN	basic	protein_coding	PPM1M	HGNC	protein_coding	OTTHUMT00000329230.2	53	0.00	0	C	NM_144641		52283691	52283691	+1	no_errors	ENST00000457351	ensembl	human	known	69_37n	nonsense	30	18.92	7	SNP	0.910	G
PPM1L	151742	genome.wustl.edu	37	3	160786886	160786886	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:160786886G>A	ENST00000498165.1	+	4	1125	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.D215N|PPM1L_ENST00000464260.1_Missense_Mutation_p.D163N	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	342	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGGCTGCCCTGACAATATAAC	0.458																																					Pancreas(86;250 1994 13715 43211)	dbGAP											0													51.0	50.0	50.0					3																	160786886		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.1024G>A	3.37:g.160786886G>A	ENSP00000417659:p.Asp342Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3J2|Q96NM7	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.D342N	ENST00000498165.1	37	c.1024	CCDS33886.1	3	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037696	0.93630	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.40225	1.04;1.04;1.04	5.14	5.14	0.70334	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87158	0.2213	10	0.87932	D	0	.	17.5985	0.88018	0.0:0.0:1.0:0.0	.	215;342	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	N	342;163;215	ENSP00000417659:D342N;ENSP00000420746:D163N;ENSP00000295839:D215N	ENSP00000295839:D215N	D	+	1	0	PPM1L	162269580	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.447000	0.97595	2.395000	0.81488	0.655000	0.94253	GAC	PPM1L	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000163590		0.458	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1L	HGNC	protein_coding	OTTHUMT00000353019.1	58	0.00	0	G	NM_139245		160786886	160786886	+1	no_errors	ENST00000498165	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	A
PPP1R10	5514	genome.wustl.edu	37	6	30574587	30574587	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:30574587G>A	ENST00000376511.2	-	7	981	c.429C>T	c.(427-429)gtC>gtT	p.V143V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	143	Interaction with TOX4. {ECO:0000250}.|TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAGAGCGGATGACAGCCATCC	0.473																																						dbGAP											0													40.0	39.0	39.0					6																	30574587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.429C>T	6.37:g.30574587G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00405	Silent	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.V143	ENST00000376511.2	37	c.429	CCDS4681.1	6																																																																																			PPP1R10	-	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	ENSG00000204569		0.473	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	37	0.00	0	G	NM_002714		30574587	30574587	-1	no_errors	ENST00000376511	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.991	A
PPP1R9B	84687	genome.wustl.edu	37	17	48213557	48213557	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:48213557C>G	ENST00000316878.6	-	10	2075	c.2073G>C	c.(2071-2073)caG>caC	p.Q691H	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	691	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GCTCCAGGCTCTGCAGCTGAG	0.632																																						dbGAP											0													41.0	42.0	42.0					17																	48213557		1993	4159	6152	-	-	-	SO:0001583	missense	0			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2073G>C	17.37:g.48213557C>G	ENSP00000475417:p.Gln691His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-	ENSG00000108819		0.632	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		124	0.00	0	C	NM_032595		48213557	48213557	-1	no_errors	ENST00000316878	ensembl	human	known	69_37n	rna	90	11.76	12	SNP	1.000	G
PPP6R1	22870	genome.wustl.edu	37	19	55751015	55751015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:55751015C>A	ENST00000412770.2	-	14	2166	c.1600G>T	c.(1600-1602)Gag>Tag	p.E534*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E534*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	534					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CGGTCGTCCTCATCGTCACTG	0.652																																						dbGAP											0													60.0	66.0	64.0					19																	55751015		2117	4210	6327	-	-	-	SO:0001587	stop_gained	0			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1600G>T	19.37:g.55751015C>A	ENSP00000414202:p.Glu534*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.E534*	ENST00000412770.2	37	c.1600	CCDS46186.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.208196	0.98136	.	.	ENSG00000105063	ENST00000412770	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-32.6259	17.69	0.88267	0.0:1.0:0.0:0.0	.	.	.	.	X	534	.	ENSP00000414202:E534X	E	-	1	0	PPP6R1	60442827	1.000000	0.71417	0.986000	0.45419	0.237000	0.25408	7.011000	0.76359	2.788000	0.95919	0.650000	0.86243	GAG	PPP6R1	-	superfamily_ARM-type_fold	ENSG00000105063		0.652	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	152	0.00	0	C	NM_014931		55751015	55751015	-1	no_errors	ENST00000412770	ensembl	human	known	69_37n	nonsense	107	27.70	41	SNP	1.000	A
PPT1	5538	genome.wustl.edu	37	1	40542569	40542569	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:40542569C>T	ENST00000433473.3	-	8	1207	c.743G>A	c.(742-744)aGa>aAa	p.R248K	PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.R29K|PPT1_ENST00000449045.2_Missense_Mutation_p.R145K	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	248					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGCCACTTCTGTAAAATCC	0.448																																						dbGAP											0													122.0	108.0	113.0					1																	40542569		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.743G>A	1.37:g.40542569C>T	ENSP00000394863:p.Arg248Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.R248K	ENST00000433473.3	37	c.743	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951539	0.02285	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000530076	D;D;D	0.97256	-4.31;-4.31;-4.31	6.07	4.0	0.46444	.	0.125597	0.64402	N	0.000001	D	0.85919	0.5809	N	0.01140	-0.99	0.34501	D	0.706082	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.80743	-0.1246	10	0.02654	T	1	-12.379	8.6343	0.33939	0.0:0.7128:0.0:0.2872	.	145;248	P50897-2;P50897	.;PPT1_HUMAN	K	248;145;29	ENSP00000394863:R248K;ENSP00000392293:R145K;ENSP00000434007:R29K	ENSP00000394863:R248K	R	-	2	0	PPT1	40315156	0.977000	0.34250	0.998000	0.56505	0.016000	0.09150	0.540000	0.23191	0.712000	0.32039	-0.136000	0.14681	AGA	PPT1	-	pfam_Palm_thioest,prints_Palm_thioest	ENSG00000131238		0.448	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	143	0.00	0	C	NM_000310		40542569	40542569	-1	no_errors	ENST00000433473	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	T
PRDM15	63977	genome.wustl.edu	37	21	43280475	43280475	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:43280475C>G	ENST00000269844.3	-	8	1008	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PRDM15_ENST00000398548.1_Missense_Mutation_p.E37Q|PRDM15_ENST00000422911.1_Missense_Mutation_p.E37Q|PRDM15_ENST00000447207.2_5'UTR|PRDM15_ENST00000538201.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGCCATCTCTGACACCTGT	0.463																																						dbGAP											0													106.0	94.0	98.0					21																	43280475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.898G>C	21.37:g.43280475C>G	ENSP00000269844:p.Glu300Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E300Q	ENST00000269844.3	37	c.898	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667248	0.29604	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000269844	T;T;T	0.10192	3.11;3.11;2.9	4.73	3.85	0.44370	.	.	.	.	.	T	0.08403	0.0209	L	0.27053	0.805	0.22591	N	0.998959	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.15870	0.014;0.011;0.007	T	0.25047	-1.0143	9	0.54805	T	0.06	.	8.4172	0.32678	0.0:0.8014:0.0:0.1986	.	300;37;37	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	37;37;300	ENSP00000408592:E37Q;ENSP00000381556:E37Q;ENSP00000269844:E300Q	ENSP00000269844:E300Q	E	-	1	0	PRDM15	42153544	0.001000	0.12720	0.041000	0.18516	0.943000	0.58893	1.162000	0.31786	1.100000	0.41517	0.563000	0.77884	GAG	PRDM15	-	NULL	ENSG00000141956		0.463	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		125	0.00	0	C	NM_022115		43280475	43280475	-1	no_errors	ENST00000269844	ensembl	human	known	69_37n	missense	63	25.00	21	SNP	0.116	G
PRDM9	56979	genome.wustl.edu	37	5	23521163	23521163	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:23521163C>G	ENST00000296682.3	+	6	565	c.383C>G	c.(382-384)tCt>tGt	p.S128C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	128					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTAATGAATCTAGTTTGAAA	0.408										HNSCC(3;0.000094)																												dbGAP											0													89.0	85.0	87.0					5																	23521163		1873	4103	5976	-	-	-	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.383C>G	5.37:g.23521163C>G	ENSP00000296682:p.Ser128Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S128C	ENST00000296682.3	37	c.383	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037600	0.19669	.	.	ENSG00000164256	ENST00000296682	T	0.09723	2.95	3.31	0.214	0.15249	.	.	.	.	.	T	0.13841	0.0335	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	P	0.51415	0.669	T	0.17077	-1.0381	9	0.66056	D	0.02	-1.4824	2.0145	0.03495	0.2014:0.4817:0.1965:0.1204	.	128	Q9NQV7	PRDM9_HUMAN	C	128	ENSP00000296682:S128C	ENSP00000296682:S128C	S	+	2	0	PRDM9	23556920	0.036000	0.19791	0.001000	0.08648	0.006000	0.05464	0.482000	0.22276	0.036000	0.15547	0.531000	0.56144	TCT	PRDM9	-	NULL	ENSG00000164256		0.408	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	225	0.00	0	C	NM_020227		23521163	23521163	+1	no_errors	ENST00000296682	ensembl	human	known	69_37n	missense	141	31.22	64	SNP	0.001	G
PRG2	5553	genome.wustl.edu	37	11	57156626	57156626	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:57156626C>T	ENST00000311862.5	-	3	296	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PRG2_ENST00000533605.1_Missense_Mutation_p.E75K|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E180K|PRG2_ENST00000525955.1_Missense_Mutation_p.E75K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	75					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	GAGATAGACTCAACAGCCCCA	0.557																																						dbGAP											0													152.0	143.0	146.0					11																	57156626		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.223G>A	11.37:g.57156626C>T	ENSP00000312134:p.Glu75Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.E75K	ENST00000311862.5	37	c.223	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279838	0.23392	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.46819	0.86;2.56;0.86;0.86	3.68	0.645	0.17782	.	0.352028	0.19959	N	0.102251	T	0.32041	0.0816	L	0.42245	1.32	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.16289	0.003;0.015	T	0.14587	-1.0467	10	0.34782	T	0.22	.	3.7938	0.08732	0.0:0.5625:0.2027:0.2347	.	75;75	A6XMW0;P13727	.;PRG2_HUMAN	K	75;75;75;180	ENSP00000312134:E75K;ENSP00000433231:E75K;ENSP00000433016:E75K;ENSP00000431536:E180K	ENSP00000312134:E75K	E	-	1	0	RP11-872D17.8;PRG2	56913202	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.045000	0.13468	-0.219000	0.12488	GAG	PRG2	-	NULL	ENSG00000186652		0.557	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1	162	0.00	0	C	NM_002728		57156626	57156626	-1	no_errors	ENST00000311862	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.001	T
PRKCA	5578	genome.wustl.edu	37	17	64731637	64731637	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:64731637G>A	ENST00000413366.3	+	10	1113	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GGGCACAGAAGAACTGTATGC	0.493																																						dbGAP											0													195.0	162.0	173.0					17																	64731637		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1087G>A	17.37:g.64731637G>A	ENSP00000408695:p.Glu363Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.E363K	ENST00000413366.3	37	c.1087	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838150	0.71373	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.64438	-0.1	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	N	0.02315	-0.6	0.80722	D	1	B;D	0.61080	0.243;0.989	B;D	0.63033	0.146;0.91	T	0.72629	-0.4235	10	0.62326	D	0.03	.	19.1954	0.93686	0.0:0.0:1.0:0.0	.	363;274	P17252;Q59FI5	KPCA_HUMAN;.	K	363;270	ENSP00000408695:E363K	ENSP00000284384:E270K	E	+	1	0	PRKCA	62162099	1.000000	0.71417	0.911000	0.35937	0.849000	0.48306	9.869000	0.99810	2.535000	0.85469	0.650000	0.86243	GAA	PRKCA	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000154229		0.493	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	160	0.00	0	G			64731637	64731637	+1	no_errors	ENST00000413366	ensembl	human	known	69_37n	missense	102	20.31	26	SNP	1.000	A
PRMT2	3275	genome.wustl.edu	37	21	48064220	48064220	+	Silent	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:48064220C>A	ENST00000397637.1	+	4	1101	c.147C>A	c.(145-147)ctC>ctA	p.L49L	PRMT2_ENST00000334494.4_Silent_p.L49L|PRMT2_ENST00000397628.1_Silent_p.L49L|PRMT2_ENST00000458387.2_Silent_p.L49L|PRMT2_ENST00000355680.3_Silent_p.L49L|PRMT2_ENST00000291705.6_Silent_p.L49L|PRMT2_ENST00000440086.1_Silent_p.L49L|PRMT2_ENST00000451211.2_Silent_p.L49L|PRMT2_ENST00000397638.2_Silent_p.L49L			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	49	Interaction with ESR1.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TTTTCCAGCTCAGTTTTTTGA	0.413																																						dbGAP											0													35.0	39.0	38.0					21																	48064220		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.147C>A	21.37:g.48064220C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	p.L49	ENST00000397637.1	37	c.147	CCDS13737.1	21																																																																																			PRMT2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	ENSG00000160310		0.413	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	127	0.00	0	C	NM_001535		48064220	48064220	+1	no_errors	ENST00000355680	ensembl	human	known	69_37n	silent	60	18.92	14	SNP	0.980	A
PROX1	5629	genome.wustl.edu	37	1	214170683	214170683	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:214170683G>C	ENST00000366958.4	+	2	1413	c.805G>C	c.(805-807)Gat>Cat	p.D269H	PROX1_ENST00000435016.1_Missense_Mutation_p.D269H|PROX1_ENST00000261454.4_Missense_Mutation_p.D269H|PROX1_ENST00000498508.2_Missense_Mutation_p.D269H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	269					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCGGAAAATGATGAAGATGG	0.527																																						dbGAP											0													60.0	60.0	60.0					1																	214170683		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.805G>C	1.37:g.214170683G>C	ENSP00000355925:p.Asp269His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.D269H	ENST00000366958.4	37	c.805	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747646	0.15710	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.93	5.93	0.95920	.	0.087428	0.85682	D	0.000000	T	0.16085	0.0387	N	0.12182	0.205	0.50171	D	0.999859	B	0.06786	0.001	B	0.10450	0.005	T	0.06734	-1.0810	10	0.34782	T	0.22	-4.7471	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	269	Q92786	PROX1_HUMAN	H	269	ENSP00000420283:D269H;ENSP00000355925:D269H;ENSP00000400694:D269H;ENSP00000261454:D269H	ENSP00000261454:D269H	D	+	1	0	PROX1	212237306	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.602000	0.74141	2.805000	0.96524	0.655000	0.94253	GAT	PROX1	-	pfam_Prox1	ENSG00000117707		0.527	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	77	0.00	0	G	NM_002763		214170683	214170683	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	C
PRPF4B	8899	genome.wustl.edu	37	6	4032971	4032971	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:4032971G>C	ENST00000337659.6	+	2	1320	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	407	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCAGAGAGGAGACGACTTTCT	0.433																																						dbGAP											0													63.0	71.0	68.0					6																	4032971		2200	4297	6497	-	-	-	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1220G>C	6.37:g.4032971G>C	ENSP00000337194:p.Arg407Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Splice_Site	SNP	-	NULL	ENST00000337659.6	37	c.NULL	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679110	0.47886	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70282	-0.47;-0.45	5.65	4.78	0.61160	.	0.072433	0.56097	D	0.000028	T	0.52901	0.1763	L	0.55990	1.75	0.45427	D	0.998407	B	0.17667	0.023	B	0.15870	0.014	T	0.52571	-0.8558	10	0.33141	T	0.24	.	14.0063	0.64465	0.0722:0.0:0.9278:0.0	.	407	Q13523	PRP4B_HUMAN	T	407;393	ENSP00000337194:R407T;ENSP00000439331:R393T	ENSP00000337194:R407T	R	+	2	0	PRPF4B	3977970	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.305000	0.51873	2.665000	0.90641	0.585000	0.79938	AGA	PRPF4B	-	-	ENSG00000112739		0.433	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	34	0.00	0	G			4032971	4032971	+1	no_errors	ENST00000489943	ensembl	human	known	69_37n	splice_site	29	12.12	4	SNP	1.000	C
PRR16	51334	genome.wustl.edu	37	5	120021713	120021713	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:120021713C>G	ENST00000407149.2	+	2	433	c.224C>G	c.(223-225)tCc>tGc	p.S75C	PRR16_ENST00000505123.1_Missense_Mutation_p.S5C|PRR16_ENST00000446965.1_Missense_Mutation_p.S5C|PRR16_ENST00000379551.2_Missense_Mutation_p.S52C			Q569H4	LARGN_HUMAN	proline rich 16	75					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACTGACAGCTCCAAAACGGAC	0.488																																						dbGAP											0													107.0	98.0	101.0					5																	120021713		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.224C>G	5.37:g.120021713C>G	ENSP00000385118:p.Ser75Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.S75C	ENST00000407149.2	37	c.224		5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061880	0.76187	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63786	-0.6558	9	.	.	.	-0.3156	18.0795	0.89438	0.0:1.0:0.0:0.0	.	75;52	Q569H4;Q569H4-3	PRR16_HUMAN;.	C	75;52;5;5;5	ENSP00000385118:S75C;ENSP00000368869:S52C;ENSP00000421256:S5C;ENSP00000423446:S5C;ENSP00000405491:S5C	.	S	+	2	0	PRR16	120049612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.425000	0.80255	2.568000	0.86640	0.555000	0.69702	TCC	PRR16	-	NULL	ENSG00000184838		0.488	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	166	0.00	0	C	NM_016644		120021713	120021713	+1	no_errors	ENST00000407149	ensembl	human	known	69_37n	missense	80	19.19	19	SNP	1.000	G
PRUNE2	158471	genome.wustl.edu	37	9	79324570	79324570	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:79324570C>T	ENST00000376718.3	-	8	2743	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D515N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	874					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGATGTGATCCCTGGAGTCA	0.423																																						dbGAP											0													119.0	102.0	107.0					9																	79324570		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2620G>A	9.37:g.79324570C>T	ENSP00000365908:p.Asp874Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.D515N	ENST00000376718.3	37	c.1543	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.140|0.140	-1.103597|-1.103597	0.01828|0.01828	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.46451|.	0.87;0.9|.	5.6|5.6	3.42|3.42	0.39159|0.39159	.|.	0.648787|.	0.13756|.	N|.	0.364965|.	T|T	0.31544|0.31544	0.0800|0.0800	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	0.999991|0.999991	B|.	0.15141|.	0.012|.	B|.	0.11329|.	0.006|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.42905|.	T|.	0.14|.	-4.726|-4.726	9.9796|9.9796	0.41806|0.41806	0.0:0.7651:0.0:0.2349|0.0:0.7651:0.0:0.2349	.|.	874|.	Q8WUY3|.	PRUN2_HUMAN|.	N|E	874;515;873|195	ENSP00000365908:D874N;ENSP00000397425:D515N|.	ENSP00000365908:D874N|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78514390|78514390	0.115000|0.115000	0.22152|0.22152	0.745000|0.745000	0.31077|0.31077	0.089000|0.089000	0.18198|0.18198	1.775000|1.775000	0.38584|0.38584	1.374000|1.374000	0.46228|0.46228	0.462000|0.462000	0.41574|0.41574	GAT|GGA	PRUNE2	-	NULL	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	263	0.00	0	C	NM_138818		79324570	79324570	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	143	12.20	20	SNP	0.009	T
PSD3	23362	genome.wustl.edu	37	8	18729541	18729541	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:18729541C>G	ENST00000327040.8	-	3	935	c.833G>C	c.(832-834)aGa>aCa	p.R278T	PSD3_ENST00000440756.2_Missense_Mutation_p.R278T|PSD3_ENST00000523619.1_Missense_Mutation_p.R213T	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	278					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGGGTGCTCTCTCCCAAGAGC	0.567																																						dbGAP											0													54.0	55.0	55.0					8																	18729541		1959	4142	6101	-	-	-	SO:0001583	missense	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.833G>C	8.37:g.18729541C>G	ENSP00000324127:p.Arg278Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.R278T	ENST00000327040.8	37	c.833	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948564	0.18356	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.32023	1.47;1.47;1.47	5.81	2.02	0.26589	.	1.407250	0.04527	N	0.385693	T	0.20981	0.0505	N	0.24115	0.695	0.09310	N	1	B	0.27498	0.18	B	0.21546	0.035	T	0.26780	-1.0093	10	0.66056	D	0.02	.	3.9242	0.09256	0.1673:0.5745:0.0:0.2582	.	278	E9KL50	.	T	278;278;213	ENSP00000324127:R278T;ENSP00000401704:R278T;ENSP00000430640:R213T	ENSP00000324127:R278T	R	-	2	0	PSD3	18773821	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	0.282000	0.18829	0.370000	0.24538	0.655000	0.94253	AGA	PSD3	-	NULL	ENSG00000156011		0.567	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	75	0.00	0	C	NM_015310		18729541	18729541	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.000	G
PSG7	5676	genome.wustl.edu	37	19	43433868	43433868	+	RNA	SNP	C	C	G	rs151223590	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:43433868C>G	ENST00000406070.2	-	0	531				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTTGGGAGTCTCCACTGTGC	0.517																																						dbGAP											0													143.0	144.0	144.0					19																	43433868		2201	4300	6501	-	-	-			0					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433868C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15232	Missense_Mutation	SNP	NULL	p.E145D	ENST00000406070.2	37	c.435		19																																																																																			PSG7	-	NULL	ENSG00000221878		0.517	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	HGNC	polymorphic_pseudogene	OTTHUMT00000321431.2	357	0.00	0	C	NM_001206650		43433868	43433868	-1	pseudogene	ENST00000406070	ensembl	human	known	69_37n	missense	251	12.85	37	SNP	0.000	G
PSME4	23198	genome.wustl.edu	37	2	54127040	54127040	+	Missense_Mutation	SNP	C	C	G	rs142064799	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:54127040C>G	ENST00000404125.1	-	29	3455	c.3400G>C	c.(3400-3402)Gaa>Caa	p.E1134Q	PSME4_ENST00000421748.2_Missense_Mutation_p.E278Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1134					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATTCTTTTCCTGTTGGCGT	0.363																																						dbGAP											0													217.0	218.0	217.0					2																	54127040		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3400G>C	2.37:g.54127040C>G	ENSP00000384211:p.Glu1134Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.E1134Q	ENST00000404125.1	37	c.3400	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071615	0.36566	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.24538	1.87;1.85	5.63	5.63	0.86233	Armadillo-type fold (1);	0.780131	0.12427	N	0.469842	T	0.15219	0.0367	N	0.04508	-0.205	0.38585	D	0.950271	B;B;B	0.24721	0.11;0.019;0.03	B;B;B	0.19391	0.025;0.012;0.011	T	0.26573	-1.0099	10	0.15952	T	0.53	.	19.2849	0.94067	0.0:1.0:0.0:0.0	.	509;278;1134	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	Q	278;1134	ENSP00000410830:E278Q;ENSP00000384211:E1134Q	ENSP00000384211:E1134Q	E	-	1	0	PSME4	53980544	1.000000	0.71417	0.948000	0.38648	0.985000	0.73830	4.031000	0.57267	2.669000	0.90835	0.655000	0.94253	GAA	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	512	0.00	0	C	XM_040158		54127040	54127040	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	missense	225	16.04	43	SNP	0.993	G
PTPN13	5783	genome.wustl.edu	37	4	87684080	87684080	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:87684080G>A	ENST00000411767.2	+	24	3817	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PTPN13_ENST00000436978.1_Missense_Mutation_p.E1252K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1233K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1252K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1061K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1252					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCCAGGACTGAGAGTGCCAG	0.562																																						dbGAP											0													78.0	79.0	78.0					4																	87684080		1915	4132	6047	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3754G>A	4.37:g.87684080G>A	ENSP00000407249:p.Glu1252Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E1252K	ENST00000411767.2	37	c.3754	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324575	0.81580	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54279	0.58;0.66;0.72;0.58;0.66	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000078	T	0.69061	0.3069	M	0.66939	2.045	0.49483	D	0.999796	D;B;D;D	0.69078	0.997;0.335;0.992;0.996	D;B;P;D	0.68192	0.942;0.084;0.831;0.956	T	0.62770	-0.6784	10	0.14252	T	0.57	.	19.3346	0.94309	0.0:0.0:1.0:0.0	.	1061;1233;1252;1252	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	1233;1252;1061;1252;1252;1201	ENSP00000408368:E1233K;ENSP00000394794:E1252K;ENSP00000322675:E1061K;ENSP00000407249:E1252K;ENSP00000426626:E1252K	ENSP00000322675:E1061K	E	+	1	0	PTPN13	87903104	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.369000	0.73109	2.549000	0.85964	0.650000	0.86243	GAG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.562	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	103	0.00	0	G			87684080	87684080	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	1.000	A
PTPN22	26191	genome.wustl.edu	37	1	114401701	114401701	+	Splice_Site	SNP	C	C	G	rs74163641		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:114401701C>G	ENST00000359785.5	-	3	332		c.e3-1		PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000528414.1_Splice_Site|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Splice_Site|PTPN22_ENST00000534519.1_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATAATCATCTATAATACAA	0.378																																						dbGAP											0													52.0	52.0	52.0					1																	114401701		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.197-1G>C	1.37:g.114401701C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Splice_Site	SNP	-	e3-1	ENST00000359785.5	37	c.197-1	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941897	0.73557	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.877	0.92341	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN22	114203224	1.000000	0.71417	0.997000	0.53966	0.738000	0.42128	7.315000	0.78998	2.631000	0.89168	0.563000	0.77884	.	PTPN22	-	-	ENSG00000134242		0.378	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	205	0.00	0	C	NM_015967	Intron	114401701	114401701	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	splice_site	121	24.38	39	SNP	1.000	G
PTPN6	5777	genome.wustl.edu	37	12	7069833	7069833	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:7069833G>C	ENST00000318974.9	+	15	1917				PTPN6_ENST00000539029.1_Intron|PTPN6_ENST00000456013.1_Missense_Mutation_p.E561Q|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000399448.1_Intron	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						taggagcttggagtctagtgc	0.607																																						dbGAP											0													77.0	78.0	78.0					12																	7069833		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1674-136G>C	12.37:g.7069833G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.E561Q	ENST00000318974.9	37	c.1681	CCDS44820.1	12	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272389	0.40194	.	.	ENSG00000111679	ENST00000456013	T	0.14144	2.53	3.59	-5.78	0.02362	.	.	.	.	.	T	0.07413	0.0187	L	0.42245	1.32	0.09310	N	1	P	0.52316	0.952	B	0.41271	0.352	T	0.23511	-1.0186	9	0.19147	T	0.46	.	0.8792	0.01230	0.2142:0.3011:0.303:0.1817	.	561	G3V0F8	.	Q	561	ENSP00000391592:E561Q	ENSP00000391592:E561Q	E	+	1	0	PTPN6	6940094	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.000000	0.03693	-0.802000	0.04421	0.561000	0.74099	GAG	PTPN6	-	pirsf_Tyr_Pase_non-rcpt_typ-6/11	ENSG00000111679		0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN6	HGNC	protein_coding	OTTHUMT00000400023.1	75	0.00	0	G	NM_002831		7069833	7069833	+1	no_errors	ENST00000456013	ensembl	human	known	69_37n	missense	58	14.29	10	SNP	0.000	C
PTPN7	5778	genome.wustl.edu	37	1	202127408	202127408	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:202127408C>G	ENST00000308986.5	-	3	274	c.144G>C	c.(142-144)ctG>ctC	p.L48L	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Silent_p.L87L|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Silent_p.L153L			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	48	Interaction with MAP kinases.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CGTCCAGCATCAGAGCCACAT	0.547																																						dbGAP											0													36.0	38.0	37.0					1																	202127408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.144G>C	1.37:g.202127408C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	NULL	p.D55H	ENST00000308986.5	37	c.163		1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334577	0.24253	.	.	ENSG00000143851	ENST00000435759	.	.	.	4.9	3.98	0.46160	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59579	-0.7428	5	0.39692	T	0.17	.	10.3161	0.43738	0.1526:0.7003:0.147:0.0	.	.	.	.	H	55	.	ENSP00000406042:D55H	D	-	1	0	PTPN7	200394031	0.969000	0.33509	1.000000	0.80357	0.605000	0.37080	1.172000	0.31908	1.032000	0.39892	0.313000	0.20887	GAT	PTPN7	-	NULL	ENSG00000143851		0.547	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	HGNC	protein_coding		95	0.00	0	C	NM_002832		202127408	202127408	-1	no_stop_codon	ENST00000435759	ensembl	human	novel	69_37n	missense	47	12.96	7	SNP	1.000	G
QSER1	79832	genome.wustl.edu	37	11	32990666	32990666	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:32990666C>A	ENST00000399302.2	+	10	5130	c.4795C>A	c.(4795-4797)Ctt>Att	p.L1599I	QSER1_ENST00000527788.1_Missense_Mutation_p.L1360I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1599										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTTTGAATCTTCATTTGGA	0.308																																						dbGAP											0													85.0	89.0	88.0					11																	32990666		1817	4052	5869	-	-	-	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4795C>A	11.37:g.32990666C>A	ENSP00000382241:p.Leu1599Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.L1599I	ENST00000399302.2	37	c.4795	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034594	0.75617	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.45276	0.9;0.9	5.41	4.49	0.54785	.	0.000000	0.30311	U	0.009908	T	0.50905	0.1643	L	0.47716	1.5	0.51233	D	0.999919	D;D	0.89917	0.997;1.0	D;D	0.87578	0.958;0.998	T	0.52064	-0.8625	10	0.54805	T	0.06	.	5.1093	0.14800	0.0:0.7154:0.0:0.2846	.	1360;1599	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	I	1599;1360	ENSP00000382241:L1599I;ENSP00000432766:L1360I	ENSP00000382241:L1599I	L	+	1	0	QSER1	32947242	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.956000	0.49129	2.532000	0.85374	0.650000	0.86243	CTT	QSER1	-	NULL	ENSG00000060749		0.308	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	168	0.00	0	C	NM_024774		32990666	32990666	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	1.000	A
R3HCC1L	27291	genome.wustl.edu	37	10	99968876	99968876	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:99968876G>A	ENST00000298999.3	+	5	1308	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.K335K|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	335							nucleotide binding (GO:0000166)										AATGTGAGAAGAATGACAGCA	0.403																																						dbGAP											0													170.0	145.0	153.0					10																	99968876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1005G>A	10.37:g.99968876G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	NULL	p.K335	ENST00000298999.3	37	c.1005	CCDS31267.1	10																																																																																			R3HCC1L	-	NULL	ENSG00000166024		0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	107	0.00	0	G	NM_014472		99968876	99968876	+1	no_errors	ENST00000298999	ensembl	human	known	69_37n	silent	53	11.67	7	SNP	0.062	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37732380	37732380	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:37732380C>G	ENST00000330843.4	-	3	1287	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E277D|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E425D|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E277D	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	425					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTTCTTGCTCTCCTTAGCTT	0.572																																						dbGAP											0													87.0	80.0	83.0					8																	37732380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1275G>C	8.37:g.37732380C>G	ENSP00000331342:p.Glu425Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E425D	ENST00000330843.4	37	c.1275	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	6.573	0.474030	0.12521	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.37752	2.01;2.31;1.32;1.18	4.91	3.11	0.35812	.	0.107041	0.41294	N	0.000910	T	0.21550	0.0519	L	0.28400	0.85	0.26559	N	0.973764	B;B;B;B	0.21606	0.058;0.04;0.009;0.058	B;B;B;B	0.17098	0.017;0.016;0.007;0.011	T	0.14531	-1.0469	10	0.27785	T	0.31	-13.0581	4.9091	0.13812	0.1334:0.6112:0.1729:0.0826	.	277;277;425;425	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	D	425;425;277;277	ENSP00000287263:E425D;ENSP00000331342:E425D;ENSP00000430009:E277D;ENSP00000430680:E277D	ENSP00000287263:E425D	E	-	3	2	RAB11FIP1	37851538	0.992000	0.36948	0.955000	0.39395	0.107000	0.19398	0.329000	0.19698	0.476000	0.27440	0.563000	0.77884	GAG	RAB11FIP1	-	NULL	ENSG00000156675		0.572	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	71	0.00	0	C	NM_025151		37732380	37732380	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	G
RAB25	57111	genome.wustl.edu	37	1	156039895	156039895	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:156039895G>C	ENST00000361084.5	+	5	755				RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family						positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGGTTGGGGAGAAGGGAGCAT	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.515-56G>C	1.37:g.156039895G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	RNA	SNP	-	NULL	ENST00000361084.5	37	NULL	CCDS41413.1	1																																																																																			RAB25	-	-	ENSG00000132698		0.552	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1	59	0.00	0	G			156039895	156039895	+1	no_errors	ENST00000487325	ensembl	human	known	69_37n	rna	28	12.50	4	SNP	0.000	C
RALBP1	10928	genome.wustl.edu	37	18	9513245	9513245	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:9513245C>G	ENST00000019317.4	+	2	425	c.202C>G	c.(202-204)Cat>Gat	p.H68D	RALBP1_ENST00000383432.3_Missense_Mutation_p.H68D			Q15311	RBP1_HUMAN	ralA binding protein 1	68					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)	TGAGAAAGATCATGGGAAGAA	0.388																																						dbGAP											0													49.0	50.0	49.0					18																	9513245		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.202C>G	18.37:g.9513245C>G	ENSP00000019317:p.His68Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.H68D	ENST00000019317.4	37	c.202	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876306	0.72180	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.10960	2.82;2.82	5.1	3.32	0.38043	.	0.046113	0.85682	D	0.000000	T	0.24084	0.0583	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.00343	-1.1802	10	0.36615	T	0.2	-15.3955	11.7929	0.52080	0.0:0.8632:0.0:0.1368	.	68	Q15311	RBP1_HUMAN	D	68	ENSP00000019317:H68D;ENSP00000372924:H68D	ENSP00000019317:H68D	H	+	1	0	RALBP1	9503245	1.000000	0.71417	0.988000	0.46212	0.950000	0.60333	4.674000	0.61612	0.662000	0.31006	0.462000	0.41574	CAT	RALBP1	-	NULL	ENSG00000017797		0.388	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	137	0.00	0	C	NM_006788		9513245	9513245	+1	no_errors	ENST00000019317	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	G
RAPGEF6	51735	genome.wustl.edu	37	5	130764670	130764670	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:130764670G>C	ENST00000509018.1	-	27	4910	c.4705C>G	c.(4705-4707)Cag>Gag	p.Q1569E	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q1577E|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Q1619E	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1569					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCTGAGGCTGAGTTACAATC	0.473																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													132.0	122.0	125.0					5																	130764670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4705C>G	5.37:g.130764670G>C	ENSP00000421684:p.Gln1569Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q1569E	ENST00000509018.1	37	c.4705	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493408	0.44352	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.22743	1.94;1.94;2.03	4.92	4.92	0.64577	.	0.168255	0.40908	D	0.000990	T	0.18635	0.0447	L	0.34521	1.04	0.80722	D	1	B;B;B	0.15719	0.014;0.014;0.004	B;B;B	0.18263	0.013;0.021;0.013	T	0.02654	-1.1128	10	0.37606	T	0.19	.	15.6675	0.77242	0.0:0.0:1.0:0.0	.	1577;1619;1569	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	E	1569;1577;1619	ENSP00000421684:Q1569E;ENSP00000296859:Q1577E;ENSP00000426948:Q1619E	ENSP00000426948:Q1619E	Q	-	1	0	RAPGEF6;FNIP1	130792569	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.031000	0.64134	2.580000	0.87095	0.655000	0.94253	CAG	RAPGEF6	-	NULL	ENSG00000158987		0.473	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	183	0.00	0	G	NM_016340		130764670	130764670	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	70	28.57	28	SNP	1.000	C
RANBP17	64901	genome.wustl.edu	37	5	170720958	170720958	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:170720958C>G	ENST00000523189.1	+	26	3179	c.3015C>G	c.(3013-3015)ctC>ctG	p.L1005L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1005					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGCCTCTCCTGGGGCTCA	0.498			T	TRD@	ALL																																	dbGAP		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													181.0	175.0	177.0					5																	170720958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3015C>G	5.37:g.170720958C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IU74	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L1005	ENST00000523189.1	37	c.3015	CCDS34287.1	5																																																																																			RANBP17	-	NULL	ENSG00000204764		0.498	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	202	0.00	0	C	NM_022897		170720958	170720958	+1	no_errors	ENST00000523189	ensembl	human	known	69_37n	silent	123	13.38	19	SNP	1.000	G
RASA3	22821	genome.wustl.edu	37	13	114766363	114766363	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr13:114766363C>T	ENST00000334062.7	-	19	1909	c.1788G>A	c.(1786-1788)aaG>aaA	p.K596K	RASA3_ENST00000389544.4_Silent_p.K564K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	596	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCTTAAAATTCTTCATCCCAA	0.537																																						dbGAP											0													126.0	126.0	126.0					13																	114766363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1788G>A	13.37:g.114766363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.K596	ENST00000334062.7	37	c.1788	CCDS32016.1	13																																																																																			RASA3	-	pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000185989		0.537	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	200	0.00	0	C	NM_007368		114766363	114766363	-1	no_errors	ENST00000334062	ensembl	human	known	69_37n	silent	98	14.78	17	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79339279	79339279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:79339279G>T	ENST00000419573.3	-	5	961	c.687C>A	c.(685-687)taC>taA	p.Y229*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Y229*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	229	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGACCGGATGTAGTCCTGGA	0.617																																						dbGAP											0													110.0	87.0	95.0					15																	79339279		2196	4293	6489	-	-	-	SO:0001587	stop_gained	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.687C>A	15.37:g.79339279G>T	ENSP00000405963:p.Tyr229*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y229*	ENST00000419573.3	37	c.687	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.681071	0.98428	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.51	2.47	0.30058	.	0.192338	0.36740	N	0.002421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7981	0.29158	0.2258:0.0:0.7742:0.0	.	.	.	.	X	229	.	ENSP00000378224:Y229X	Y	-	3	2	RASGRF1	77126334	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.275000	0.33144	1.107000	0.41642	0.655000	0.94253	TAC	RASGRF1	-	superfamily_DH-domain,pfscan_IQ_motif_EF-hand-BS	ENSG00000058335		0.617	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	128	0.00	0	G	NM_002891		79339279	79339279	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	nonsense	35	33.96	18	SNP	1.000	T
RBBP8	5932	genome.wustl.edu	37	18	20596816	20596816	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:20596816C>G	ENST00000399722.2	+	17	2734	c.2383C>G	c.(2383-2385)Cat>Gat	p.H795D	RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.H795D|RBBP8_ENST00000360790.5_Missense_Mutation_p.H800D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	795					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAATTTTCCTCATATTGAGGT	0.343								Homologous recombination																														dbGAP											0													87.0	89.0	88.0					18																	20596816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2383C>G	18.37:g.20596816C>G	ENSP00000382628:p.His795Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.H795D	ENST00000399722.2	37	c.2383	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039851	0.75732	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.33438	1.43;1.43;1.41	5.33	5.33	0.75918	.	0.112728	0.64402	D	0.000009	T	0.49609	0.1567	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.43925	-0.9361	10	0.51188	T	0.08	-10.9345	18.011	0.89224	0.0:1.0:0.0:0.0	.	800;795	E7ETY1;Q99708	.;COM1_HUMAN	D	795;795;800	ENSP00000323050:H795D;ENSP00000382628:H795D;ENSP00000354024:H800D	ENSP00000323050:H795D	H	+	1	0	RBBP8	18850814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.437000	0.66544	2.493000	0.84123	0.637000	0.83480	CAT	RBBP8	-	NULL	ENSG00000101773		0.343	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	312	0.00	0	C	NM_203291		20596816	20596816	+1	no_errors	ENST00000327155	ensembl	human	known	69_37n	missense	155	13.89	25	SNP	1.000	G
RBM47	54502	genome.wustl.edu	37	4	40427930	40427930	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:40427930C>G	ENST00000381793.2	-	6	2169	c.1773G>C	c.(1771-1773)caG>caC	p.Q591H	RBM47_ENST00000319592.4_Missense_Mutation_p.Q522H|RP11-588L15.2_ENST00000514187.1_RNA|RBM47_ENST00000381795.6_Missense_Mutation_p.Q522H|RBM47_ENST00000514014.1_Missense_Mutation_p.Q553H|RBM47_ENST00000295971.7_Missense_Mutation_p.Q591H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	591					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTCAGTATGTCTGGTAGACGT	0.547																																						dbGAP											0													105.0	91.0	96.0					4																	40427930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1773G>C	4.37:g.40427930C>G	ENSP00000371212:p.Gln591His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q591H	ENST00000381793.2	37	c.1773	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337847	0.60963	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.24350	1.86;2.09;1.86;2.09;2.13	6.17	6.17	0.99709	.	0.218189	0.49916	D	0.000133	T	0.26231	0.0640	L	0.27053	0.805	0.53688	D	0.999971	P;P	0.47253	0.892;0.828	P;B	0.47251	0.542;0.44	T	0.00865	-1.1535	10	0.87932	D	0	-13.9176	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	522;591	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	522;591;522;591;553	ENSP00000320108:Q522H;ENSP00000371212:Q591H;ENSP00000371214:Q522H;ENSP00000295971:Q591H;ENSP00000423243:Q553H	ENSP00000295971:Q591H	Q	-	3	2	RBM47	40122687	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.660000	0.61511	2.941000	0.99782	0.655000	0.94253	CAG	RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.547	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	115	0.00	0	C	NM_019027		40427930	40427930	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	missense	70	25.53	24	SNP	1.000	G
RBM47	54502	genome.wustl.edu	37	4	40440508	40440508	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:40440508C>T	ENST00000381793.2	-	3	799	c.403G>A	c.(403-405)Gag>Aag	p.E135K	RBM47_ENST00000319592.4_Missense_Mutation_p.E135K|RBM47_ENST00000381795.6_Missense_Mutation_p.E135K|RBM47_ENST00000514014.1_Missense_Mutation_p.E97K|RBM47_ENST00000295971.7_Missense_Mutation_p.E135K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	135	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGCGGATCTCGTAGTTGTTG	0.617																																						dbGAP											0													50.0	44.0	46.0					4																	40440508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.403G>A	4.37:g.40440508C>T	ENSP00000371212:p.Glu135Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E135K	ENST00000381793.2	37	c.403	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895776	0.91962	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	L	0.58428	1.81	0.80722	D	1	D;P	0.71674	0.998;0.796	D;P	0.73380	0.98;0.459	T	0.06023	-1.0850	10	0.59425	D	0.04	-28.1798	20.0143	0.97474	0.0:1.0:0.0:0.0	.	135;135	A0AV96-2;A0AV96	.;RBM47_HUMAN	K	135;135;135;135;97;135;135;135;135	ENSP00000320108:E135K;ENSP00000371212:E135K;ENSP00000371214:E135K;ENSP00000295971:E135K;ENSP00000423243:E97K;ENSP00000422564:E135K;ENSP00000421589:E135K;ENSP00000423527:E135K;ENSP00000426542:E135K	ENSP00000295971:E135K	E	-	1	0	RBM47	40135265	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.813000	0.86123	2.740000	0.93945	0.313000	0.20887	GAG	RBM47	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.617	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	24	0.00	0	C	NM_019027		40440508	40440508	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	T
REL	5966	genome.wustl.edu	37	2	61145531	61145531	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:61145531G>C	ENST00000295025.8	+	7	963	c.643G>C	c.(643-645)Gac>Cac	p.D215H	REL_ENST00000394479.3_Missense_Mutation_p.D215H	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	215	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TTGACTAGATGACATAGAAGT	0.308			A		Hodgkin Lymphoma																																	dbGAP		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													78.0	76.0	77.0					2																	61145531		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.643G>C	2.37:g.61145531G>C	ENSP00000295025:p.Asp215His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D215H	ENST00000295025.8	37	c.643	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771721	0.90108	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	D;D	0.91945	-2.94;-2.94	5.77	5.77	0.91146	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97090	0.9790	10	0.87932	D	0	-11.9417	20.0007	0.97408	0.0:0.0:1.0:0.0	.	215;215	Q17RU2;Q04864	.;REL_HUMAN	H	215	ENSP00000295025:D215H;ENSP00000377989:D215H	ENSP00000295025:D215H	D	+	1	0	REL	60999035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	2.726000	0.93360	0.650000	0.86243	GAC	REL	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor	ENSG00000162924		0.308	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	165	0.00	0	G	NM_002908		61145531	61145531	+1	no_errors	ENST00000295025	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	1.000	C
REM1	28954	genome.wustl.edu	37	20	30064438	30064438	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:30064438G>C	ENST00000201979.2	+	2	483	c.190G>C	c.(190-192)Gat>Cat	p.D64H	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	64					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACCTGCCCCAGATGATTGGTC	0.602																																						dbGAP											0													76.0	71.0	73.0					20																	30064438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.190G>C	20.37:g.30064438G>C	ENSP00000201979:p.Asp64His	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D64H	ENST00000201979.2	37	c.190	CCDS13181.1	20	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076356	0.20227	.	.	ENSG00000088320	ENST00000201979	T	0.66815	-0.23	4.63	-0.0551	0.13811	.	0.643637	0.15384	N	0.265153	T	0.44787	0.1310	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.30572	0.117	T	0.32402	-0.9908	10	0.52906	T	0.07	.	5.5843	0.17266	0.1403:0.0:0.5348:0.325	.	64	O75628	REM1_HUMAN	H	64	ENSP00000201979:D64H	ENSP00000201979:D64H	D	+	1	0	REM1	29528099	0.001000	0.12720	0.003000	0.11579	0.512000	0.34134	1.178000	0.31981	0.093000	0.17368	0.563000	0.77884	GAT	REM1	-	pirsf_Small_GTPase_GEM/REM/Rad	ENSG00000088320		0.602	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM1	HGNC	protein_coding	OTTHUMT00000078508.2	183	0.00	0	G	NM_014012		30064438	30064438	+1	no_errors	ENST00000201979	ensembl	human	known	69_37n	missense	79	21.00	21	SNP	0.001	C
RFK	55312	genome.wustl.edu	37	9	79002433	79002433	+	Missense_Mutation	SNP	G	G	A	rs564478804		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:79002433G>A	ENST00000376736.1	-	4	683	c.350C>T	c.(349-351)tCa>tTa	p.S117L	RFK_ENST00000479197.1_5'Flank	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	117					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTGAATTGCTGAAATAAGTGA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													86.0	87.0	86.0					9																	79002433		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.350C>T	9.37:g.79002433G>A	ENSP00000365926:p.Ser117Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSG9|Q9NUT7	Missense_Mutation	SNP	pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk	p.S117L	ENST00000376736.1	37	c.350	CCDS35044.2	9	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724777	0.48833	.	.	ENSG00000135002	ENST00000376736;ENST00000257452	.	.	.	4.68	4.68	0.58851	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.350053	0.31010	N	0.008434	T	0.57140	0.2033	L	0.49699	1.58	0.54753	D	0.99998	B	0.19817	0.039	B	0.25614	0.062	T	0.56001	-0.8051	9	0.40728	T	0.16	-1.5576	13.3775	0.60747	0.0793:0.0:0.9207:0.0	.	117	Q969G6	RIFK_HUMAN	L	117;124	.	ENSP00000257452:S124L	S	-	2	0	RFK	78192253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.607000	0.61133	2.331000	0.79229	0.460000	0.39030	TCA	RFK	-	pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk	ENSG00000135002		0.323	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFK	HGNC	protein_coding	OTTHUMT00000052720.1	225	0.00	0	G	NM_018339		79002433	79002433	-1	no_errors	ENST00000376736	ensembl	human	known	69_37n	missense	131	12.67	19	SNP	1.000	A
RGAG1	57529	genome.wustl.edu	37	X	109696097	109696097	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:109696097C>T	ENST00000465301.2	+	3	2498	c.2252C>T	c.(2251-2253)tCt>tTt	p.S751F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S751F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	751										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCCCAACCTCTGATGTGATG	0.542																																						dbGAP											0													144.0	129.0	134.0					X																	109696097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2252C>T	X.37:g.109696097C>T	ENSP00000419786:p.Ser751Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.S751F	ENST00000465301.2	37	c.2252	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	9.909	1.208987	0.22205	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.50813	0.73;0.73	2.69	2.69	0.31865	.	.	.	.	.	T	0.56717	0.2004	L	0.43923	1.385	0.33570	D	0.598482	D	0.71674	0.998	D	0.79784	0.993	T	0.63906	-0.6531	8	.	.	.	.	10.7204	0.46036	0.0:1.0:0.0:0.0	.	751	Q8NET4	RGAG1_HUMAN	F	751	ENSP00000419786:S751F;ENSP00000441452:S751F	.	S	+	2	0	RGAG1	109582753	0.795000	0.28851	0.110000	0.21437	0.013000	0.08279	2.816000	0.48026	1.644000	0.50603	0.600000	0.82982	TCT	RGAG1	-	NULL	ENSG00000243978		0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	229	0.00	0	C	NM_020769		109696097	109696097	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	131	13.82	21	SNP	0.698	T
RGS9	8787	genome.wustl.edu	37	17	63204106	63204106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:63204106C>T	ENST00000262406.9	+	16	1337	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	RGS9_ENST00000443584.3_Nonsense_Mutation_p.Q421*|RGS9_ENST00000449996.3_Nonsense_Mutation_p.Q421*	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	424					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TATTGAACCTCAGGAAACCAC	0.418																																						dbGAP											0													95.0	84.0	88.0					17																	63204106		1869	4096	5965	-	-	-	SO:0001587	stop_gained	0			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1270C>T	17.37:g.63204106C>T	ENSP00000262406:p.Gln424*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q424*	ENST00000262406.9	37	c.1270	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.610562	0.96637	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	.	.	.	5.34	5.34	0.76211	.	0.052817	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.412	0.94677	0.0:1.0:0.0:0.0	.	.	.	.	X	424;421	.	ENSP00000262406:Q424X	Q	+	1	0	RGS9	60634568	0.996000	0.38824	1.000000	0.80357	0.698000	0.40448	2.467000	0.45093	2.646000	0.89796	0.655000	0.94253	CAG	RGS9	-	NULL	ENSG00000108370		0.418	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	288	0.35	1	C	NM_003835		63204106	63204106	+1	no_errors	ENST00000262406	ensembl	human	known	69_37n	nonsense	211	11.30	27	SNP	1.000	T
RIC3	79608	genome.wustl.edu	37	11	8132155	8132155	+	3'UTR	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:8132155G>A	ENST00000309737.6	-	0	1199				RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_3'UTR|RIC3_ENST00000335425.7_3'UTR|RIC3_ENST00000343202.4_3'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACACAGTGAAGAAAGTGCAGG	0.463																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.*90C>T	11.37:g.8132155G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	SNP	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-	ENSG00000166405		0.463	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	47	0.00	0	G	NM_024557		8132155	8132155	-1	no_errors	ENST00000530060	ensembl	human	known	69_37n	rna	19	38.71	12	SNP	0.001	A
RLIM	51132	genome.wustl.edu	37	X	73812681	73812681	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:73812681C>G	ENST00000332687.6	-	4	687	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	RLIM_ENST00000349225.2_Missense_Mutation_p.E157Q	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	157					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGATGGCTCATTTTCATTC	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	dbGAP											0													146.0	134.0	138.0					X																	73812681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.469G>C	X.37:g.73812681C>G	ENSP00000328059:p.Glu157Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E157Q	ENST00000332687.6	37	c.469	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060312	0.55432	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09163	3.01;3.01	6.02	6.02	0.97574	.	0.238622	0.40908	D	0.001000	T	0.10294	0.0252	L	0.27053	0.805	0.58432	D	0.999998	P	0.47106	0.89	B	0.40901	0.343	T	0.14699	-1.0463	10	0.32370	T	0.25	-6.0072	17.6182	0.88073	0.0:1.0:0.0:0.0	.	157	Q9NVW2	RNF12_HUMAN	Q	157	ENSP00000328059:E157Q;ENSP00000253571:E157Q	ENSP00000328059:E157Q	E	-	1	0	RLIM	73729406	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.761000	0.55242	2.546000	0.85860	0.594000	0.82650	GAG	RLIM	-	NULL	ENSG00000131263		0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	353	0.00	0	C	NM_016120		73812681	73812681	-1	no_errors	ENST00000332687	ensembl	human	known	69_37n	missense	184	16.74	37	SNP	1.000	G
GIPC2	54810	genome.wustl.edu	37	1	78560569	78560569	+	Intron	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:78560569C>T	ENST00000370759.3	+	3	619				RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						cttccaagatcagatgagatt	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.427-67C>T	1.37:g.78560569C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYD3|Q9NXS7	RNA	SNP	-	NULL	ENST00000370759.3	37	NULL	CCDS685.1	1																																																																																			RNA5SP22	-	-	ENSG00000202263		0.368	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNA5SP22	HGNC	protein_coding	OTTHUMT00000098629.1	120	0.00	0	C	NM_017655		78560569	78560569	-1	no_errors	ENST00000365393	ensembl	human	known	69_37n	rna	75	13.64	12	SNP	0.213	T
RNASE6	6039	genome.wustl.edu	37	14	21250297	21250297	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:21250297G>C	ENST00000304677.2	+	2	732	c.439G>C	c.(439-441)Gat>Cat	p.D147H	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	147					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TGTACACTTAGATAGTATTCT	0.428																																						dbGAP											0													84.0	84.0	84.0					14																	21250297		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.439G>C	14.37:g.21250297G>C	ENSP00000302046:p.Asp147His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.D147H	ENST00000304677.2	37	c.439	CCDS9558.1	14	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564622	0.65651	.	.	ENSG00000169413	ENST00000304677	T	0.74842	-0.88	4.94	4.94	0.65067	Ribonuclease A, domain (4);	0.131843	0.48767	D	0.000166	D	0.87970	0.6312	M	0.89785	3.06	0.38080	D	0.936644	D	0.89917	1.0	D	0.83275	0.996	D	0.90944	0.4800	10	0.87932	D	0	-28.4635	13.8443	0.63457	0.0:0.0:1.0:0.0	.	147	Q93091	RNAS6_HUMAN	H	147	ENSP00000302046:D147H	ENSP00000302046:D147H	D	+	1	0	RNASE6	20320137	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	3.853000	0.55941	2.715000	0.92844	0.563000	0.77884	GAT	RNASE6	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	ENSG00000169413		0.428	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE6	HGNC	protein_coding	OTTHUMT00000073750.2	87	0.00	0	G			21250297	21250297	+1	no_errors	ENST00000304677	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.998	C
RNF123	63891	genome.wustl.edu	37	3	49753337	49753337	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:49753337C>G	ENST00000327697.6	+	33	3377	c.3233C>G	c.(3232-3234)tCg>tGg	p.S1078W	RNF123_ENST00000433785.1_Missense_Mutation_p.S190W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1078					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTTGACCTCTCGGTCAGCCTG	0.587																																						dbGAP											0													114.0	101.0	106.0					3																	49753337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3233C>G	3.37:g.49753337C>G	ENSP00000328287:p.Ser1078Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S1078W	ENST00000327697.6	37	c.3233	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911924	0.92178	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.65178	-0.14;-0.14	5.97	5.97	0.96955	.	0.117837	0.64402	D	0.000011	T	0.79353	0.4431	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79664	-0.1709	10	0.87932	D	0	-10.562	19.412	0.94677	0.0:1.0:0.0:0.0	.	1078	Q5XPI4	RN123_HUMAN	W	1078;1078;190	ENSP00000328287:S1078W;ENSP00000416156:S190W	ENSP00000328287:S1078W	S	+	2	0	RNF123	49728341	1.000000	0.71417	0.972000	0.41901	0.961000	0.63080	7.160000	0.77495	2.828000	0.97474	0.655000	0.94253	TCG	RNF123	-	NULL	ENSG00000164068		0.587	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	159	0.00	0	C	NM_022064		49753337	49753337	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	78	18.75	18	SNP	1.000	G
ROR2	4920	genome.wustl.edu	37	9	94486102	94486102	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:94486102C>G	ENST00000375708.3	-	9	2872	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	892					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAGCGCCCTCTGAGAGCAGG	0.637																																						dbGAP											0													101.0	98.0	99.0					9																	94486102		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2674G>C	9.37:g.94486102C>G	ENSP00000364860:p.Glu892Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E892Q	ENST00000375708.3	37	c.2674	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667900	0.14710	.	.	ENSG00000169071	ENST00000375708	T	0.77098	-1.07	4.75	3.85	0.44370	.	0.000000	0.42548	D	0.000687	T	0.60353	0.2262	N	0.08118	0	0.47698	D	0.999495	B	0.24258	0.1	B	0.24541	0.054	T	0.60172	-0.7315	10	0.56958	D	0.05	.	13.2433	0.60010	0.0:0.9234:0.0:0.0766	.	892	Q01974	ROR2_HUMAN	Q	892	ENSP00000364860:E892Q	ENSP00000364860:E892Q	E	-	1	0	ROR2	93525923	0.999000	0.42202	0.198000	0.23420	0.078000	0.17371	4.227000	0.58612	1.229000	0.43630	-0.254000	0.11334	GAG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000169071		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	158	0.00	0	C			94486102	94486102	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	missense	97	11.82	13	SNP	0.814	G
RPAIN	84268	genome.wustl.edu	37	17	5331402	5331402	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:5331402G>C	ENST00000381209.3	+	6	1071	c.501G>C	c.(499-501)ttG>ttC	p.L167F	RPAIN_ENST00000405578.4_Missense_Mutation_p.L167F|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000381208.5_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	167	Mediates nuclear export.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTTCTGAGTTGACAGAGCAGA	0.433																																						dbGAP											0													167.0	160.0	163.0					17																	5331402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.501G>C	17.37:g.5331402G>C	ENSP00000370606:p.Leu167Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	NULL	p.L167F	ENST00000381209.3	37	c.501	CCDS32536.1	17	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247615	0.22880	.	.	ENSG00000129197	ENST00000381209;ENST00000405578	T;T	0.50813	0.75;0.73	5.18	4.21	0.49690	.	0.360647	0.29133	N	0.013059	T	0.62380	0.2423	M	0.64997	1.995	0.80722	D	1	D;D;D	0.67145	0.985;0.973;0.996	P;P;D	0.64410	0.859;0.859;0.925	T	0.65245	-0.6215	10	0.59425	D	0.04	-25.9919	12.7754	0.57443	0.0786:0.0:0.9214:0.0	.	167;167;167	E9PES3;Q86UA6;B4DI36	.;RIP_HUMAN;.	F	167	ENSP00000370606:L167F;ENSP00000385814:L167F	ENSP00000370606:L167F	L	+	3	2	RPAIN	5272126	1.000000	0.71417	0.984000	0.44739	0.395000	0.30598	2.617000	0.46385	1.412000	0.46977	0.563000	0.77884	TTG	RPAIN	-	NULL	ENSG00000129197		0.433	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000439373.1	193	0.00	0	G	NM_001033002		5331402	5331402	+1	no_errors	ENST00000405578	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	1.000	C
RPGR	6103	genome.wustl.edu	37	X	38146233	38146233	+	Intron	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:38146233C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E673D|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						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						ccttctccctctccTCATCTT	0.527																																						dbGAP											0													275.0	220.0	238.0					X																	38146233		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			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.2520+113G>C	X.37:g.38146233C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	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.E673D	ENST00000339363.3	37	c.2019		X	.	.	.	.	.	.	.	.	.	.	c	4.452	0.083659	0.08533	.	.	ENSG00000156313	ENST00000378505	T	0.55588	0.51	3.0	0.496	0.16896	.	2.910830	0.04400	U	0.364084	T	0.38585	0.1046	L	0.39898	1.24	0.09310	N	1	B	0.34015	0.435	B	0.27076	0.076	T	0.12319	-1.0552	10	0.27082	T	0.32	.	4.1281	0.10136	0.0:0.3656:0.1774:0.4569	.	673	E9PE28	.	D	673	ENSP00000367766:E673D	ENSP00000367766:E673D	E	-	3	2	RPGR	38031177	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.220000	0.17660	-0.207000	0.10187	0.353000	0.21931	GAG	RPGR	-	NULL	ENSG00000156313		0.527	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		1052	0.00	0	C	NM_000328		38146233	38146233	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	missense	380	31.16	172	SNP	0.000	G
RPL19	6143	genome.wustl.edu	37	17	37357542	37357542	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:37357542G>A	ENST00000225430.4	+	2	144	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RPL19_ENST00000579374.1_Missense_Mutation_p.E25K|RPL19_ENST00000579260.1_Missense_Mutation_p.E26K|RPL19_ENST00000582193.1_Missense_Mutation_p.E26K	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	28					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGACCCCAATGAGACCAATGA	0.478																																						dbGAP											0													84.0	82.0	83.0					17																	37357542		1908	4134	6042	-	-	-	SO:0001583	missense	0				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.82G>A	17.37:g.37357542G>A	ENSP00000225430:p.Glu28Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	p.E28K	ENST00000225430.4	37	c.82	CCDS42312.1	17	.	.	.	.	.	.	.	.	.	.	g	33	5.288588	0.95517	.	.	ENSG00000108298	ENST00000225430	.	.	.	4.7	4.7	0.59300	Ribosomal protein L19/L19e (2);Ribosomal protein L19/L19e, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.86805	2.84	0.80722	D	1	P	0.40250	0.709	P	0.48454	0.578	D	0.83773	0.0221	9	0.66056	D	0.02	.	17.6176	0.88072	0.0:0.0:1.0:0.0	.	28	P84098	RL19_HUMAN	K	28	.	ENSP00000225430:E28K	E	+	1	0	RPL19	34611068	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.465000	0.97660	2.169000	0.68431	0.313000	0.20887	GAG	RPL19	-	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	ENSG00000108298		0.478	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL19	HGNC	protein_coding	OTTHUMT00000444190.1	111	0.00	0	G	NM_000981		37357542	37357542	+1	no_errors	ENST00000225430	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	A
RTKN2	219790	genome.wustl.edu	37	10	63964638	63964638	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:63964638G>C	ENST00000373789.3	-	10	1260	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	RTKN2_ENST00000315289.2_Missense_Mutation_p.F190L|RTKN2_ENST00000395265.1_Missense_Mutation_p.F409L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	388	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AATGCTGCCAGAAGGCTTCCA	0.343																																						dbGAP											0													65.0	68.0	67.0					10																	63964638		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1164C>G	10.37:g.63964638G>C	ENSP00000362894:p.Phe388Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F388L	ENST00000373789.3	37	c.1164	CCDS7263.1	10	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719705	0.30503	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.71341	-0.56;-0.56;-0.56	5.11	3.24	0.37175	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051264	0.85682	D	0.000000	T	0.56321	0.1977	L	0.35414	1.06	0.45261	D	0.998268	B;P	0.47604	0.178;0.898	B;P	0.45167	0.078;0.472	T	0.58451	-0.7634	10	0.02654	T	1	-4.0981	10.8469	0.46748	0.1531:0.0:0.8469:0.0	.	190;388	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	L	190;409;388	ENSP00000325379:F190L;ENSP00000378682:F409L;ENSP00000362894:F388L	ENSP00000325379:F190L	F	-	3	2	RTKN2	63634644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.415000	0.44635	1.166000	0.42689	-0.145000	0.13849	TTC	RTKN2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000182010		0.343	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	152	0.00	0	G	NM_145307		63964638	63964638	-1	no_errors	ENST00000373789	ensembl	human	known	69_37n	missense	64	18.99	15	SNP	1.000	C
RYR3	6263	genome.wustl.edu	37	15	33945019	33945019	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:33945019G>C	ENST00000389232.4	+	32	4313	c.4243G>C	c.(4243-4245)Gtg>Ctg	p.V1415L	RYR3_ENST00000415757.3_Missense_Mutation_p.V1415L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1415	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGCTGTCTCGTGGATCTGGC	0.562																																						dbGAP											0													108.0	111.0	110.0					15																	33945019		2038	4205	6243	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4243G>C	15.37:g.33945019G>C	ENSP00000373884:p.Val1415Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1415L	ENST00000389232.4	37	c.4243	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918122	0.33815	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.32753	1.44;1.44	5.52	-0.23	0.13090	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.459800	0.22016	N	0.065793	T	0.16214	0.0390	L	0.28192	0.835	0.21416	N	0.999699	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.11641	-1.0579	10	0.48119	T	0.1	.	3.2353	0.06762	0.1175:0.1202:0.4144:0.3479	.	1415;1415	Q15413-2;Q15413	.;RYR3_HUMAN	L	1415	ENSP00000373884:V1415L;ENSP00000399610:V1415L	ENSP00000354735:V1415L	V	+	1	0	RYR3	31732311	0.750000	0.28316	0.275000	0.24674	0.870000	0.49936	1.219000	0.32479	0.088000	0.17205	-0.175000	0.13238	GTG	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	214	0.00	0	G			33945019	33945019	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	98	14.04	16	SNP	0.079	C
SAMD10	140700	genome.wustl.edu	37	20	62608706	62608706	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:62608706C>T	ENST00000369886.3	-	2	319	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGATGCTCTCAGCTGACACC	0.652																																						dbGAP											0													70.0	70.0	70.0					20																	62608706		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.145G>A	20.37:g.62608706C>T	ENSP00000358902:p.Glu49Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E49K	ENST00000369886.3	37	c.145	CCDS13549.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.189206	0.94923	.	.	ENSG00000130590	ENST00000369886;ENST00000450107	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.34521	1.04	0.54753	D	0.999988	D	0.63880	0.993	D	0.70935	0.971	T	0.69665	-0.5084	9	0.62326	D	0.03	-22.7545	15.6883	0.77430	0.0:1.0:0.0:0.0	.	49	Q9BYL1	SAM10_HUMAN	K	49;88	.	ENSP00000358902:E49K	E	-	1	0	SAMD10	62079150	1.000000	0.71417	0.947000	0.38551	0.900000	0.52787	5.261000	0.65496	2.135000	0.66039	0.313000	0.20887	GAG	SAMD10	-	NULL	ENSG00000130590		0.652	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD10	HGNC	protein_coding	OTTHUMT00000080255.1	174	0.00	0	C	NM_080621		62608706	62608706	-1	no_errors	ENST00000369886	ensembl	human	known	69_37n	missense	143	17.71	31	SNP	1.000	T
SAMD8	142891	genome.wustl.edu	37	10	76924411	76924411	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:76924411G>C	ENST00000542569.1	+	3	690	c.587G>C	c.(586-588)aGa>aCa	p.R196T	SAMD8_ENST00000372687.4_Missense_Mutation_p.R196T|SAMD8_ENST00000372690.3_Missense_Mutation_p.R259T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	196					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGTTCCTAGAATCCCATGG	0.403																																						dbGAP											0													216.0	193.0	201.0					10																	76924411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.587G>C	10.37:g.76924411G>C	ENSP00000438042:p.Arg196Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R259T	ENST00000542569.1	37	c.776	CCDS53543.1	10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584422	0.86748	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	M	0.72894	2.215	0.58432	D	0.999997	D;P	0.60575	0.988;0.893	P;P	0.58721	0.844;0.601	D	0.94864	0.8024	10	0.39692	T	0.17	-15.1893	18.3006	0.90162	0.0:0.0:1.0:0.0	.	196;196	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	T	196;259;196;196	ENSP00000391799:R196T;ENSP00000361775:R259T;ENSP00000438042:R196T;ENSP00000361772:R196T	ENSP00000361772:R196T	R	+	2	0	SAMD8	76594417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.426000	0.82243	0.591000	0.81541	AGA	SAMD8	-	NULL	ENSG00000156671		0.403	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		446	0.00	0	G	NM_144660		76924411	76924411	+1	no_errors	ENST00000372690	ensembl	human	known	69_37n	missense	204	14.64	35	SNP	1.000	C
SATB1	6304	genome.wustl.edu	37	3	18438718	18438719	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:18438718_18438719TC>AG	ENST00000338745.6	-	6	2437_2438	c.703_704GA>CT	c.(703-705)GAa>CTa	p.E235L	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Missense_Mutation_p.E235L|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E235L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	235	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCTTCCAAATTCTTGACATTTT	0.371																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.703_704delinsAG	3.37:g.18438718_18438719delinsAG	ENSP00000341024:p.Glu235Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E235V|p.E235Q	ENST00000338745.6	37	c.704|c.703	CCDS2631.1	3																																																																																			SATB1	-	superfamily_Lambda_DNA-bd_dom	ENSG00000182568		0.371	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	620|612	0.00	0	T|C	NM_001131010		18438718|18438719	18438718|18438719	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	244|239	14.69|14.64	42|41	SNP	1.000	A|G
SATB1	6304	genome.wustl.edu	37	3	18456713	18456713	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:18456713C>G	ENST00000338745.6	-	5	2263	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Missense_Mutation_p.E177Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E177Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	177	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGCAAGTCTTCTAGTTTGGGG	0.433																																						dbGAP											0													102.0	91.0	95.0					3																	18456713		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.529G>C	3.37:g.18456713C>G	ENSP00000341024:p.Glu177Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E177Q	ENST00000338745.6	37	c.529	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991933	0.74703	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.73	5.73	0.89815	.	0.093131	0.64402	D	0.000001	T	0.81673	0.4872	L	0.28115	0.83	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.62014	0.897;0.827	T	0.83033	-0.0161	10	0.72032	D	0.01	-1.1514	20.2602	0.98440	0.0:1.0:0.0:0.0	.	177;177	Q01826-2;Q01826	.;SATB1_HUMAN	Q	177	ENSP00000341024:E177Q;ENSP00000399708:E177Q;ENSP00000399518:E177Q;ENSP00000402982:E177Q	ENSP00000341024:E177Q	E	-	1	0	SATB1	18431717	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GAA	SATB1	-	NULL	ENSG00000182568		0.433	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	151	0.00	0	C	NM_001131010		18456713	18456713	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	1.000	G
SCARB1	949	genome.wustl.edu	37	12	125267281	125267281	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:125267281G>A	ENST00000415380.2	-	11	1777				SCARB1_ENST00000261693.6_Missense_Mutation_p.S493F|SCARB1_ENST00000546215.1_Missense_Mutation_p.S465F|SCARB1_ENST00000376788.1_Missense_Mutation_p.S393F|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000339570.5_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGTCATCAGGGATTCAGAATA	0.478																																						dbGAP											0													109.0	104.0	105.0					12																	125267281		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3371C>T	12.37:g.125267281G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.S493F	ENST00000415380.2	37	c.1478		12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222052	0.39300	.	.	ENSG00000073060	ENST00000261693;ENST00000376788;ENST00000546215	T;T;T	0.66815	0.08;-0.15;-0.23	5.24	4.35	0.52113	.	7.061640	0.00357	N	0.000026	T	0.61726	0.2370	L	0.38838	1.175	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.25745	-1.0123	10	0.33141	T	0.24	-20.1607	9.8626	0.41123	0.095:0.0:0.905:0.0	.	465;493	B7ZKQ9;Q8WTV0-2	.;.	F	493;393;465	ENSP00000261693:S493F;ENSP00000365984:S393F;ENSP00000442862:S465F	ENSP00000261693:S493F	S	-	2	0	SCARB1	123833234	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	1.143000	0.31553	1.202000	0.43218	0.561000	0.74099	TCC	SCARB1	-	NULL	ENSG00000073060		0.478	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	170	0.00	0	G	NM_005505		125267281	125267281	-1	no_errors	ENST00000261693	ensembl	human	known	69_37n	missense	99	10.00	11	SNP	0.994	A
SCCPDH	51097	genome.wustl.edu	37	1	246922379	246922379	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:246922379C>G	ENST00000366510.3	+	7	1115	c.739C>G	c.(739-741)Cct>Gct	p.P247A		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	247						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.P247A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTATTCCATTCCTTTTATGGG	0.363																																						dbGAP											1	Substitution - Missense(1)	lung(1)											226.0	222.0	223.0					1																	246922379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.739C>G	1.37:g.246922379C>G	ENSP00000355467:p.Pro247Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.P247A	ENST00000366510.3	37	c.739	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491141	0.64074	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.38401	1.14	6.16	6.16	0.99307	.	0.045006	0.85682	D	0.000000	T	0.67202	0.2868	M	0.91038	3.17	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.71616	-0.4539	10	0.52906	T	0.07	.	15.1689	0.72854	0.1755:0.8245:0.0:0.0	.	247	Q8NBX0	SCPDL_HUMAN	A	247;78	ENSP00000355467:P247A	ENSP00000355466:P78A	P	+	1	0	SCCPDH	244989002	1.000000	0.71417	0.987000	0.45799	0.510000	0.34073	2.868000	0.48436	2.937000	0.99478	0.650000	0.86243	CCT	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.363	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	529	0.00	0	C	NM_016002		246922379	246922379	+1	no_errors	ENST00000366510	ensembl	human	known	69_37n	missense	286	14.33	48	SNP	1.000	G
SCIN	85477	genome.wustl.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:12668762G>C	ENST00000297029.5	+	9	1335	c.1234G>C	c.(1234-1236)Gac>Cac	p.D412H	SCIN_ENST00000445618.2_Missense_Mutation_p.D165H|SCIN_ENST00000519209.1_Missense_Mutation_p.D165H	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	412	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.D412N(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GATCCAAGTTGACCAAAACTC	0.368																																						dbGAP											4	Substitution - Missense(4)	lung(4)											138.0	132.0	134.0					7																	12668762		1899	4119	6018	-	-	-	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1234G>C	7.37:g.12668762G>C	ENSP00000297029:p.Asp412His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.D412H	ENST00000297029.5	37	c.1234	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029630	0.75504	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55413	0.52;0.52;0.52	5.1	4.15	0.48705	Gelsolin domain (1);	0.170139	0.50627	D	0.000108	T	0.74137	0.3677	M	0.88181	2.935	0.49299	D	0.99977	P	0.51537	0.946	D	0.64410	0.925	T	0.79097	-0.1943	10	0.87932	D	0	-17.6745	12.6604	0.56811	0.0874:0.0:0.9126:0.0	.	412	Q9Y6U3	ADSV_HUMAN	H	412;165;165	ENSP00000297029:D412H;ENSP00000430997:D165H;ENSP00000390189:D165H	ENSP00000297029:D412H	D	+	1	0	SCIN	12635287	1.000000	0.71417	0.025000	0.17156	0.855000	0.48748	5.235000	0.65348	1.133000	0.42147	0.462000	0.41574	GAC	SCIN	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000006747		0.368	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	325	0.00	0	G	NM_033128		12668762	12668762	+1	no_errors	ENST00000297029	ensembl	human	known	69_37n	missense	170	10.05	19	SNP	0.997	C
SCN2A	6326	genome.wustl.edu	37	2	166172242	166172242	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:166172242G>C	ENST00000375437.2	+	11	1935	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.E549Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.E549Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.E549Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	549					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGACATATGAAAAGAGATT	0.323																																						dbGAP											0													69.0	76.0	74.0					2																	166172242		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1645G>C	2.37:g.166172242G>C	ENSP00000364586:p.Glu549Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E549Q	ENST00000375437.2	37	c.1645	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818521	0.71028	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.9	5.9	0.94986	Domain of unknown function DUF3451 (1);	4.053990	0.00357	N	0.000032	D	0.95956	0.8683	M	0.80028	2.48	0.52099	D	0.999948	B;P	0.42456	0.404;0.78	B;P	0.57371	0.305;0.819	D	0.84173	0.0435	9	.	.	.	.	15.0443	0.71816	0.0:0.0:0.858:0.142	.	549;549	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	549	ENSP00000364586:E549Q;ENSP00000349973:E549Q;ENSP00000283256:E549Q;ENSP00000364576:E549Q	.	E	+	1	0	SCN2A	165880488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.788000	0.95919	0.650000	0.86243	GAA	SCN2A	-	pfam_DUF3451	ENSG00000136531		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	40	0.00	0	G	NM_021007		166172242	166172242	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	10	23.08	3	SNP	1.000	C
SCLY	51540	genome.wustl.edu	37	2	238990391	238990391	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:238990391G>C	ENST00000555827.1	+	5	590	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	SCLY_ENST00000254663.6_Missense_Mutation_p.E184Q|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.E82Q|SCLY_ENST00000373332.3_Missense_Mutation_p.E94Q|SCLY_ENST00000409736.2_Missense_Mutation_p.E176Q			Q96I15	SCLY_HUMAN	selenocysteine lyase	176					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGGGCAGGCAGAGGTGGACGA	0.567																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	dbGAP											0													110.0	95.0	100.0					2																	238990391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.526G>C	2.37:g.238990391G>C	ENSP00000450613:p.Glu176Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	p.E184Q	ENST00000555827.1	37	c.550		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.40|12.40|12.40	1.927450|1.927450|1.927450	0.34002|0.34002|0.34002	.|.|.	.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000431487|ENST00000437134	T;T;T;D;T;T;T|.|.	0.86865|.|.	1.97;1.97;1.56;-2.18;1.56;1.97;1.56|.|.	5.84|5.84|5.84	4.94|4.94|4.94	0.65067|0.65067|0.65067	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);|.|.	0.051530|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.62551|0.62551|0.62551	0.2437|0.2437|0.2437	L|L|L	0.47716|0.47716|0.47716	1.5|1.5|1.5	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B|.|.	0.34313|.|.	0.06;0.059;0.448|.|.	B;B;B|.|.	0.27170|.|.	0.073;0.077;0.073|.|.	T|T|T	0.59947|0.59947|0.59947	-0.7358|-0.7358|-0.7358	10|5|5	0.56958|.|.	D|.|.	0.05|.|.	-18.7595|-18.7595|-18.7595	15.7494|15.7494|15.7494	0.77972|0.77972|0.77972	0.0:0.1371:0.8629:0.0|0.0:0.1371:0.8629:0.0|0.0:0.1371:0.8629:0.0	.|.|.	82;176;176|.|.	E7ESG3;Q96I15;Q96I15-2|.|.	.;SCLY_HUMAN;.|.|.	Q|H|T	184;176;94;90;176;82;6|21|19	ENSP00000254663:E184Q;ENSP00000450613:E176Q;ENSP00000362429:E94Q;ENSP00000414165:E90Q;ENSP00000387162:E176Q;ENSP00000416865:E82Q;ENSP00000414053:E6Q|.|.	ENSP00000254663:E176Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	SCLY|SCLY|SCLY	238655130|238655130|238655130	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.034000|0.034000|0.034000	0.17996|0.17996|0.17996	0.115000|0.115000|0.115000	0.19883|0.19883|0.19883	6.649000|6.649000|6.649000	0.74364|0.74364|0.74364	1.426000|1.426000|1.426000	0.47256|0.47256|0.47256	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.567	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		140	0.00	0	G	NM_016510		238990391	238990391	+1	no_errors	ENST00000254663	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	0.999	C
SCN5A	6331	genome.wustl.edu	37	3	38646307	38646307	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:38646307C>G	ENST00000333535.4	-	11	1580	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N	SCN5A_ENST00000425664.1_Missense_Mutation_p.K477N|SCN5A_ENST00000449557.2_Missense_Mutation_p.K477N|SCN5A_ENST00000423572.2_Missense_Mutation_p.K477N|SCN5A_ENST00000414099.2_Missense_Mutation_p.K477N|SCN5A_ENST00000455624.2_Missense_Mutation_p.K477N|SCN5A_ENST00000443581.1_Missense_Mutation_p.K477N|SCN5A_ENST00000451551.2_Missense_Mutation_p.K477N|SCN5A_ENST00000450102.2_Missense_Mutation_p.K477N|SCN5A_ENST00000413689.1_Missense_Mutation_p.K477N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	477					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTCTCCTCTTGCTTCTTC	0.547																																						dbGAP											0													108.0	105.0	106.0					3																	38646307		1953	4140	6093	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1431G>C	3.37:g.38646307C>G	ENSP00000328968:p.Lys477Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K477N	ENST00000333535.4	37	c.1431	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253285	0.59212	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.33	4.44	0.53790	Domain of unknown function DUF3451 (1);	0.469687	0.22687	N	0.056869	D	0.88855	0.6550	L	0.44542	1.39	0.33255	D	0.558934	P;P;P;P;P;P;P	0.47762	0.611;0.896;0.763;0.801;0.801;0.9;0.763	B;P;B;B;B;P;B	0.48952	0.243;0.596;0.288;0.412;0.412;0.466;0.288	D	0.90719	0.4633	10	0.54805	T	0.06	.	9.2893	0.37778	0.1432:0.7829:0.0:0.0739	.	477;477;477;477;477;477;477	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	N	477	ENSP00000398962:K477N;ENSP00000398266:K477N;ENSP00000410257:K477N;ENSP00000388797:K477N;ENSP00000397915:K477N;ENSP00000416634:K477N;ENSP00000328968:K477N;ENSP00000399524:K477N;ENSP00000403355:K477N;ENSP00000413996:K477N	ENSP00000328968:K477N	K	-	3	2	SCN5A	38621311	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	0.992000	0.29667	1.216000	0.43427	0.655000	0.94253	AAG	SCN5A	-	pfam_DUF3451	ENSG00000183873		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	414	0.00	0	C	NM_198056		38646307	38646307	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	160	15.71	30	SNP	1.000	G
SDAD1	55153	genome.wustl.edu	37	4	76898816	76898816	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:76898816C>T	ENST00000356260.5	-	4	506	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	130					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGAAGTTTATCATGGCAACGA	0.378																																						dbGAP											0													91.0	91.0	91.0					4																	76898816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.388G>A	4.37:g.76898816C>T	ENSP00000348596:p.Asp130Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.D130N	ENST00000356260.5	37	c.388	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004250	0.93287	.	.	ENSG00000198301	ENST00000356260	T	0.11930	2.73	5.19	5.19	0.71726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.91612	3.225	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.54853	-0.8231	10	0.72032	D	0.01	-25.5864	16.5991	0.84804	0.0:1.0:0.0:0.0	.	130	Q9NVU7	SDA1_HUMAN	N	130	ENSP00000348596:D130N	ENSP00000348596:D130N	D	-	1	0	SDAD1	77117840	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.135000	0.77276	2.857000	0.98124	0.650000	0.86243	GAT	SDAD1	-	superfamily_ARM-type_fold	ENSG00000198301		0.378	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	HGNC	protein_coding	OTTHUMT00000252418.3	221	0.45	1	C	NM_018115		76898816	76898816	-1	no_errors	ENST00000356260	ensembl	human	known	69_37n	missense	121	25.77	42	SNP	1.000	T
BNIP3L	665	genome.wustl.edu	37	8	26237796	26237796	+	5'Flank	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:26237796G>C	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TATTGTCATGGCTTCTCCAGA	0.438																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237796G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS9|Q5JW63|Q8NF87	RNA	SNP	-	NULL	ENST00000380629.2	37	NULL	CCDS6050.1	8																																																																																			SDAD1P1	-	-	ENSG00000228451		0.438	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1P1	HGNC	protein_coding	OTTHUMT00000216895.1	166	0.00	0	G	NM_004331		26237796	26237796	-1	no_errors	ENST00000519902	ensembl	human	known	69_37n	rna	110	10.57	13	SNP	0.999	C
SEC63	11231	genome.wustl.edu	37	6	108225915	108225915	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:108225915G>C	ENST00000369002.4	-	11	1151	c.972C>G	c.(970-972)ttC>ttG	p.F324L		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	324	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTAGCATGAATTGCTGAT	0.348																																						dbGAP											0													117.0	120.0	119.0					6																	108225915		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.972C>G	6.37:g.108225915G>C	ENSP00000357998:p.Phe324Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.F324L	ENST00000369002.4	37	c.972	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634327	0.29068	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.60299	0.2	5.41	1.86	0.25419	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	N	0.21282	0.65	0.80722	D	1	B;D	0.57571	0.048;0.98	B;D	0.71414	0.115;0.973	T	0.34650	-0.9820	10	0.31617	T	0.26	-14.8628	8.0556	0.30604	0.7544:0.0:0.2456:0.0	.	324;324	Q9UGP8;B3KQF0	SEC63_HUMAN;.	L	324;184	ENSP00000357998:F324L	ENSP00000357998:F324L	F	-	3	2	SEC63	108332608	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.983000	0.56916	0.380000	0.24823	-0.482000	0.04802	TTC	SEC63	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	208	0.00	0	G	NM_007214		108225915	108225915	-1	no_errors	ENST00000369002	ensembl	human	known	69_37n	missense	106	14.52	18	SNP	1.000	C
SEMA4G	57715	genome.wustl.edu	37	10	102743096	102743096	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:102743096C>T	ENST00000370250.4	+	14	2098	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Silent_p.L580L|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	575	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCTCTGTGCTCCGGGGTGATG	0.637																																						dbGAP											0													38.0	37.0	37.0					10																	102743096		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1725C>T	10.37:g.102743096C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L580	ENST00000370250.4	37	c.1740		10																																																																																			SEMA4G	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000095539		0.637	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	84	0.00	0	C			102743096	102743096	+1	no_errors	ENST00000210633	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.991	T
SENP2	59343	genome.wustl.edu	37	3	185337233	185337233	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:185337233C>G	ENST00000296257.5	+	13	1629	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	SENP2_ENST00000545472.1_Silent_p.L453L|SENP2_ENST00000427465.2_Silent_p.L287L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	463	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.L463L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGGTAAATCTCTTTGAACAAG	0.408																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											75.0	76.0	76.0					3																	185337233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1389C>G	3.37:g.185337233C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L463	ENST00000296257.5	37	c.1389	CCDS33902.1	3																																																																																			SENP2	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000163904		0.408	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	167	0.00	0	C	NM_021627		185337233	185337233	+1	no_errors	ENST00000296257	ensembl	human	known	69_37n	silent	96	11.11	12	SNP	1.000	G
SESTD1	91404	genome.wustl.edu	37	2	179981441	179981441	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:179981441G>A	ENST00000428443.3	-	15	1917	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	534							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAAACTTTCGTTTCTTGAGC	0.388																																						dbGAP											0													144.0	136.0	139.0					2																	179981441		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1601C>T	2.37:g.179981441G>A	ENSP00000415332:p.Thr534Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Nonsense_Mutation	SNP	NULL	p.R180*	ENST00000428443.3	37	c.538	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407047	0.83230	.	.	ENSG00000187231	ENST00000428443	T	0.34859	1.34	5.35	5.35	0.76521	.	0.093132	0.64402	D	0.000001	T	0.47544	0.1451	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.34527	-0.9825	9	.	.	.	-13.0324	19.4374	0.94801	0.0:0.0:1.0:0.0	.	534	Q86VW0	SESD1_HUMAN	M	534	ENSP00000415332:T534M	.	T	-	2	0	SESTD1	179689686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.392000	0.97252	2.670000	0.90874	0.467000	0.42956	ACG	SESTD1	-	NULL	ENSG00000187231		0.388	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	236	0.00	0	G	NM_178123		179981441	179981441	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446758	ensembl	human	known	69_37n	nonsense	102	10.53	12	SNP	1.000	A
SETX	23064	genome.wustl.edu	37	9	135202958	135202958	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:135202958G>A	ENST00000224140.5	-	10	4209	c.4027C>T	c.(4027-4029)Ctg>Ttg	p.L1343L	SETX_ENST00000372169.2_Silent_p.L1343L|SETX_ENST00000393220.1_Silent_p.L1343L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1343					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACTAGTCAGAAGTTTCTTA	0.358																																						dbGAP											0													72.0	74.0	73.0					9																	135202958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4027C>T	9.37:g.135202958G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.L1343	ENST00000224140.5	37	c.4027	CCDS6947.1	9																																																																																			SETX	-	NULL	ENSG00000107290		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	185	0.00	0	G	NM_015046		135202958	135202958	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	silent	105	11.76	14	SNP	0.374	A
SFT2D1	113402	genome.wustl.edu	37	6	166739592	166739592	+	Intron	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:166739592G>C	ENST00000361731.3	-	5	461				SFT2D1_ENST00000487841.1_Intron	NM_145169.1	NP_660152.1			SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		ACAGTTAACTGAAAGCCAGTA	0.408																																						dbGAP											0													75.0	70.0	72.0					6																	166739592		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.351+27C>G	6.37:g.166739592G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000361731.3	37	NULL	CCDS5292.1	6																																																																																			SFT2D1	-	-	ENSG00000198818		0.408	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D1	HGNC	protein_coding	OTTHUMT00000043061.2	111	0.00	0	G	NM_145169		166739592	166739592	-1	no_errors	ENST00000494682	ensembl	human	known	69_37n	rna	95	10.38	11	SNP	0.003	C
SGIP1	84251	genome.wustl.edu	37	1	67206375	67206375	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:67206375C>T	ENST00000371037.4	+	23	2346	c.2269C>T	c.(2269-2271)Cct>Tct	p.P757S	SGIP1_ENST00000237247.6_Missense_Mutation_p.P788S|SGIP1_ENST00000435165.2_Missense_Mutation_p.P262S|SGIP1_ENST00000371039.1_Missense_Mutation_p.P560S|SGIP1_ENST00000371035.3_Missense_Mutation_p.P547S|SGIP1_ENST00000371036.3_Missense_Mutation_p.P559S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	757	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTGGAAGATTCCTGATATCTC	0.313																																						dbGAP											0													51.0	52.0	52.0					1																	67206375		2203	4294	6497	-	-	-	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2269C>T	1.37:g.67206375C>T	ENSP00000360076:p.Pro757Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P788S	ENST00000371037.4	37	c.2362	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055736	0.55325	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.86	5.86	0.93980	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	N	0.12887	0.27	0.58432	D	0.999998	B;B;B;B;B	0.30326	0.083;0.103;0.276;0.276;0.115	B;B;B;B;B	0.37989	0.262;0.038;0.145;0.223;0.127	T	0.29088	-1.0023	10	0.15952	T	0.53	-11.8806	20.5632	0.99335	0.0:1.0:0.0:0.0	.	787;262;359;547;757	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	S	788;560;547;787;760;559;757;262	ENSP00000237247:P788S;ENSP00000360078:P560S;ENSP00000360074:P547S;ENSP00000360075:P559S;ENSP00000360076:P757S;ENSP00000395525:P262S	ENSP00000237247:P788S	P	+	1	0	SGIP1	66978963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.599000	0.54045	2.937000	0.99478	0.650000	0.86243	CCT	SGIP1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	ENSG00000118473		0.313	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	139	0.00	0	C	NM_032291		67206375	67206375	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	1.000	T
SGOL2	151246	genome.wustl.edu	37	2	201436072	201436072	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:201436072G>A	ENST00000357799.4	+	7	1101	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	335					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTTATCTTCTGAGTCTGCCAG	0.343																																						dbGAP											0													40.0	37.0	38.0					2																	201436072		1853	4109	5962	-	-	-	SO:0001583	missense	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1003G>A	2.37:g.201436072G>A	ENSP00000350447:p.Glu335Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.E335K	ENST00000357799.4	37	c.1003	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794840	0.31777	.	.	ENSG00000163535	ENST00000357799	T	0.13089	2.62	5.45	-0.993	0.10228	.	0.705630	0.13361	N	0.393628	T	0.08670	0.0215	L	0.38531	1.155	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.13407	0.009;0.009;0.009	T	0.29640	-1.0005	10	0.45353	T	0.12	-0.1862	2.7963	0.05402	0.2807:0.1225:0.4833:0.1135	.	335;335;335	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	335	ENSP00000350447:E335K	ENSP00000350447:E335K	E	+	1	0	SGOL2	201144317	0.000000	0.05858	0.009000	0.14445	0.069000	0.16628	-0.173000	0.09854	-0.076000	0.12775	-0.982000	0.02568	GAG	SGOL2	-	NULL	ENSG00000163535		0.343	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	53	0.00	0	G	NM_152524		201436072	201436072	+1	no_errors	ENST00000357799	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	0.000	A
SH2D1A	4068	genome.wustl.edu	37	X	123480597	123480597	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:123480597G>A	ENST00000371139.4	+	1	404	c.105G>A	c.(103-105)gaG>gaA	p.E35E	SH2D1A_ENST00000477673.2_Silent_p.E35E|SH2D1A_ENST00000360027.4_Silent_p.E35E|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	35	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGGACAGCGAGAGCGTGCCAG	0.602																																						dbGAP											0													168.0	125.0	139.0					X																	123480597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.105G>A	X.37:g.123480597G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Silent	SNP	pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,prints_SH2,pfscan_SH2	p.E35	ENST00000371139.4	37	c.105	CCDS14608.1	X																																																																																			SH2D1A	-	pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,prints_SH2,pfscan_SH2	ENSG00000183918		0.602	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D1A	HGNC	protein_coding	OTTHUMT00000058174.1	315	0.00	0	G	NM_002351		123480597	123480597	+1	no_errors	ENST00000371139	ensembl	human	known	69_37n	silent	170	15.00	30	SNP	1.000	A
SHANK3	85358	genome.wustl.edu	37	22	51143274	51143274	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:51143274G>C	ENST00000414786.2	+	15	2065	c.1838G>C	c.(1837-1839)gGa>gCa	p.G613A	SHANK3_ENST00000262795.3_Missense_Mutation_p.G643A|SHANK3_ENST00000445220.2_Missense_Mutation_p.G628A			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	627	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCGCACGGGAGACTTCCTC	0.692																																						dbGAP											0													45.0	59.0	54.0					22																	51143274		2171	4271	6442	-	-	-	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1838G>C	22.37:g.51143274G>C	ENSP00000464552:p.Gly613Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.G643A	ENST00000414786.2	37	c.1928		22	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678146	0.88542	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.59083	0.29;0.29	5.15	5.15	0.70609	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.81569	0.4850	M	0.92122	3.275	0.40078	D	0.976098	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86809	0.1997	9	0.87932	D	0	.	16.1133	0.81278	0.0:0.0:1.0:0.0	.	628;643	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	A	643;628	ENSP00000442518:G643A;ENSP00000446078:G628A	ENSP00000442518:G643A	G	+	2	0	SHANK3	49490140	1.000000	0.71417	0.840000	0.33206	0.940000	0.58332	9.421000	0.97455	2.412000	0.81896	0.655000	0.94253	GGA	SHANK3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000251322		0.692	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	123	0.00	0	G	NM_001080420		51143274	51143274	+1	no_errors	ENST00000262795	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	1.000	C
SKP1	6500	genome.wustl.edu	37	5	133494205	133494205	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:133494205C>G	ENST00000353411.6	-	5	580	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	SKP1_ENST00000522552.1_Missense_Mutation_p.E133Q|SKP1_ENST00000522855.1_Missense_Mutation_p.E133Q|SKP1_ENST00000517625.1_Missense_Mutation_p.E133Q|SKP1_ENST00000521216.1_Missense_Mutation_p.E133Q	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	133	Interaction with the F-box domain of F- box proteins. {ECO:0000250}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAATCTCCTCAGGAGTTTTC	0.408																																						dbGAP											0													145.0	140.0	142.0					5																	133494205		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.397G>C	5.37:g.133494205C>G	ENSP00000231487:p.Glu133Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	pfam_Skp1_comp_dimer,pfam_Skp1_comp_POZ,superfamily_Skp1_comp_dimer,superfamily_BTB/POZ_fold,smart_Skp1_comp,pirsf_E3_ubiquit_lig_SCF_Skp	p.E133Q	ENST00000353411.6	37	c.397	CCDS4171.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076186	0.76415	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321	T;T;T;T;T;T;T	0.55760	0.55;0.52;0.53;0.55;0.55;0.51;0.5	5.22	5.22	0.72569	SKP1 component, dimerisation (2);BTB/POZ fold (1);	0.000000	0.85682	U	0.000000	T	0.67924	0.2945	M	0.69185	2.1	0.80722	D	1	B;D;B	0.63880	0.114;0.993;0.125	B;P;B	0.57425	0.213;0.82;0.155	T	0.69771	-0.5055	10	0.54805	T	0.06	-4.5014	19.1385	0.93438	0.0:1.0:0.0:0.0	.	133;133;133	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	Q	133	ENSP00000231487:E133Q;ENSP00000429472:E133Q;ENSP00000431067:E133Q;ENSP00000429961:E133Q;ENSP00000429686:E133Q;ENSP00000331708:E133Q;ENSP00000429415:E133Q	ENSP00000331708:E133Q	E	-	1	0	SKP1	133522104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.214000	0.77958	2.599000	0.87857	0.563000	0.77884	GAG	SKP1	-	pfam_Skp1_comp_dimer,superfamily_Skp1_comp_dimer,pirsf_E3_ubiquit_lig_SCF_Skp	ENSG00000113558		0.408	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKP1	HGNC	protein_coding	OTTHUMT00000251162.2	309	0.00	0	C	NM_170679		133494205	133494205	-1	no_errors	ENST00000353411	ensembl	human	known	69_37n	missense	108	28.95	44	SNP	1.000	G
SLAMF1	6504	genome.wustl.edu	37	1	160604688	160604688	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:160604688C>T	ENST00000302035.6	-	3	765		c.e3-1		SLAMF1_ENST00000235739.5_Splice_Site|SLAMF1_ENST00000355199.3_Splice_Site|SLAMF1_ENST00000538290.1_Splice_Site	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1						lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAGACCTGCTCTGTCAGGAGT	0.493																																						dbGAP											0													47.0	50.0	49.0					1																	160604688		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.416-1G>A	1.37:g.160604688C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W172|Q9HBE8	Splice_Site	SNP	-	e3-1	ENST00000302035.6	37	c.416-1	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517649	0.64634	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.601	0.56497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLAMF1	158871312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.946000	0.56644	2.685000	0.91497	0.655000	0.94253	.	SLAMF1	-	-	ENSG00000117090		0.493	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	160	0.00	0	C		Intron	160604688	160604688	-1	no_errors	ENST00000302035	ensembl	human	known	69_37n	splice_site	71	11.25	9	SNP	1.000	T
SLC13A2	9058	genome.wustl.edu	37	17	26821435	26821435	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:26821435C>T	ENST00000314669.5	+	9	1633	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	SLC13A2_ENST00000444914.3_Missense_Mutation_p.L454F|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L362F|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L334F	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	405					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAAGGCCCCTCTTGGCCTCCT	0.562											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	127.0	127.0					17																	26821435		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1213C>T	17.37:g.26821435C>T	ENSP00000316202:p.Leu405Phe	Somatic	789	WXS	Illumina GAIIx	Phase_IV	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L454F	ENST00000314669.5	37	c.1360	CCDS11231.1	17	.	.	.	.	.	.	.	.	.	.	C	1.068	-0.670767	0.03403	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.71103	-0.23;-0.24;-0.54;-0.54	4.97	2.93	0.34026	.	0.555420	0.20444	N	0.092228	T	0.56321	0.1977	N	0.05259	-0.085	0.09310	N	0.999997	P;B;B;B	0.35208	0.49;0.216;0.315;0.365	B;P;B;B	0.45660	0.296;0.489;0.357;0.407	T	0.52328	-0.8590	10	0.42905	T	0.14	-22.7622	9.5541	0.39328	0.142:0.7832:0.0:0.0748	.	362;454;334;405	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	F	405;454;362;334	ENSP00000316202:L405F;ENSP00000392411:L454F;ENSP00000441935:L362F;ENSP00000440802:L334F	ENSP00000316202:L405F	L	+	1	0	SLC13A2	23845562	0.679000	0.27596	0.986000	0.45419	0.013000	0.08279	2.385000	0.44371	0.488000	0.27723	-0.379000	0.06801	CTT	SLC13A2	-	pfam_Na/sul_symport	ENSG00000007216		0.562	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	221	0.00	0	C	NM_003984		26821435	26821435	+1	no_errors	ENST00000444914	ensembl	human	known	69_37n	missense	125	16.56	25	SNP	0.469	T
SLC22A5	6584	genome.wustl.edu	37	5	131721159	131721159	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:131721159G>A	ENST00000245407.3	+	4	1013	c.792G>A	c.(790-792)acG>acA	p.T264T	SLC22A5_ENST00000435065.2_Silent_p.T288T	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	264			T -> R (in CDSP). {ECO:0000269|PubMed:20574985}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TGGCGCTGACGATGCCGGGGG	0.557											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													120.0	107.0	111.0					5																	131721159		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.792G>A	5.37:g.131721159G>A		Somatic	1589	WXS	Illumina GAIIx	Phase_IV	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt	p.R47Q	ENST00000245407.3	37	c.140	CCDS4154.1	5																																																																																			SLC22A5	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt	ENSG00000197375		0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	385	0.00	0	G	NM_003060		131721159	131721159	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448810	ensembl	human	known	69_37n	missense	200	12.50	29	SNP	0.002	A
SLC8B1	80024	genome.wustl.edu	37	12	113748067	113748067	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:113748067G>C	ENST00000552014.1	-	13	1744	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C	SLC8B1_ENST00000550047.1_5'Flank|SLC8B1_ENST00000546737.1_Missense_Mutation_p.S354C|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.S410C			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	410					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CTGGCTGTCAGATGTGGCAAA	0.587																																						dbGAP											0													68.0	65.0	66.0					12																	113748067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1229C>G	12.37:g.113748067G>C	ENSP00000447091:p.Ser410Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	pfam_NaCa_Exmemb	p.S410C	ENST00000552014.1	37	c.1229	CCDS31909.1	12	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860667	0.32884	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.61158	0.13;0.13;0.13	5.09	4.15	0.48705	.	0.256048	0.34338	N	0.004053	T	0.64125	0.2570	M	0.74258	2.255	0.37750	D	0.925921	D;B	0.64830	0.994;0.262	P;B	0.54759	0.76;0.092	T	0.68488	-0.5395	10	0.59425	D	0.04	.	4.6859	0.12757	0.0851:0.125:0.5847:0.2052	.	410;115	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	C	410;410;354;354	ENSP00000447091:S410C;ENSP00000202831:S410C;ENSP00000450081:S354C	ENSP00000202831:S410C	S	-	2	0	SLC24A6	112232450	1.000000	0.71417	0.829000	0.32907	0.002000	0.02628	1.799000	0.38824	1.045000	0.40225	-0.377000	0.06932	TCT	SLC24A6	-	NULL	ENSG00000089060		0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC24A6	HGNC	protein_coding	OTTHUMT00000404830.3	56	0.00	0	G	NM_024959		113748067	113748067	-1	no_errors	ENST00000202831	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.900	C
SLC25A12	8604	genome.wustl.edu	37	2	172683316	172683316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:172683316G>A	ENST00000422440.2	-	9	959	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	SLC25A12_ENST00000392592.4_Nonsense_Mutation_p.Q201*	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	308					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACCTGTCTCTGAAGTTCTGCC	0.398																																						dbGAP											0													66.0	66.0	66.0					2																	172683316		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.922C>T	2.37:g.172683316G>A	ENSP00000388658:p.Gln308*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR64|Q96AM8	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q308*	ENST00000422440.2	37	c.922	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.363464	0.97507	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	.	.	.	5.33	5.33	0.75918	.	0.163492	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0325	19.3598	0.94432	0.0:0.0:1.0:0.0	.	.	.	.	X	308;201	.	ENSP00000376371:Q201X	Q	-	1	0	SLC25A12	172391562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.435000	0.97529	2.638000	0.89438	0.591000	0.81541	CAG	SLC25A12	-	NULL	ENSG00000115840		0.398	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	182	0.00	0	G	NM_003705		172683316	172683316	-1	no_errors	ENST00000422440	ensembl	human	known	69_37n	nonsense	78	12.36	11	SNP	1.000	A
SLC2A13	114134	genome.wustl.edu	37	12	40153856	40153856	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:40153856G>C	ENST00000280871.4	-	10	1969	c.1919C>G	c.(1918-1920)tCt>tGt	p.S640C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	640					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATCATTGTCAGAAAGATGATA	0.373										HNSCC(50;0.14)																												dbGAP											0													126.0	121.0	123.0					12																	40153856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1919C>G	12.37:g.40153856G>C	ENSP00000280871:p.Ser640Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S07	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S640C	ENST00000280871.4	37	c.1919	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552795	0.86127	.	.	ENSG00000151229	ENST00000280871	D	0.82893	-1.66	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.86954	0.2087	10	0.56958	D	0.05	-16.7055	19.0154	0.92892	0.0:0.0:1.0:0.0	.	640	Q96QE2	MYCT_HUMAN	C	640	ENSP00000280871:S640C	ENSP00000280871:S640C	S	-	2	0	SLC2A13	38440123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.106000	0.94253	2.497000	0.84241	0.561000	0.74099	TCT	SLC2A13	-	NULL	ENSG00000151229		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	316	0.00	0	G			40153856	40153856	-1	no_errors	ENST00000280871	ensembl	human	known	69_37n	missense	153	14.04	25	SNP	1.000	C
SLC38A10	124565	genome.wustl.edu	37	17	79262575	79262575	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:79262575G>A	ENST00000374759.3	-	2	601				SLC38A10_ENST00000288439.5_Intron	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCCAGGCCTGAGGAGCTTCC	0.557																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.217+915C>T	17.37:g.79262575G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRC5|Q8NA99|Q96C66	RNA	SNP	-	NULL	ENST00000374759.3	37	NULL	CCDS42397.1	17																																																																																			SLC38A10	-	-	ENSG00000157637		0.557	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	17	0.00	0	G	NM_138570		79262575	79262575	-1	no_errors	ENST00000540233	ensembl	human	putative	69_37n	rna	7	30.00	3	SNP	0.000	A
SLC39A6	25800	genome.wustl.edu	37	18	33691198	33691198	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:33691198G>A	ENST00000590986.1	-	9	2228	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	SLC39A6_ENST00000440549.2_Silent_p.L372L|SLC39A6_ENST00000269187.5_Silent_p.L647L			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	647					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						GCCTTTAGTAGAACAGCAAAG	0.383																																						dbGAP											0													63.0	56.0	58.0					18																	33691198		1878	4107	5985	-	-	-	SO:0001819	synonymous_variant	0			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.1939C>T	18.37:g.33691198G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	pfam_ZIP	p.L647	ENST00000590986.1	37	c.1939	CCDS42428.1	18																																																																																			SLC39A6	-	pfam_ZIP	ENSG00000141424		0.383	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	118	0.00	0	G			33691198	33691198	-1	no_errors	ENST00000269187	ensembl	human	known	69_37n	silent	68	16.05	13	SNP	1.000	A
SLC41A1	254428	genome.wustl.edu	37	1	205779621	205779621	+	5'UTR	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:205779621C>T	ENST00000367137.3	-	0	963					NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TTTTTGCTTTCTCTCTTCTTC	0.557											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													17.0	23.0	21.0					1																	205779621		1325	2303	3628	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.-52G>A	1.37:g.205779621C>T		Somatic	2154	WXS	Illumina GAIIx	Phase_IV	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	RNA	SNP	-	NULL	ENST00000367137.3	37	NULL	CCDS30988.1	1																																																																																			SLC41A1	-	-	ENSG00000133065		0.557	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	41	0.00	0	C			205779621	205779621	-1	no_errors	ENST00000484000	ensembl	human	known	69_37n	rna	25	16.67	5	SNP	0.946	T
SLC5A5	6528	genome.wustl.edu	37	19	17983261	17983261	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:17983261G>A	ENST00000222248.3	+	1	480	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	45					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCGCAGCGCTGAGGACTTCTT	0.716																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0													18.0	20.0	19.0					19																	17983261		2198	4292	6490	-	-	-	SO:0001583	missense	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.133G>A	19.37:g.17983261G>A	ENSP00000222248:p.Glu45Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.E45K	ENST00000222248.3	37	c.133	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945594	0.34377	.	.	ENSG00000105641	ENST00000222248	D	0.85773	-2.03	4.12	4.12	0.48240	.	0.443231	0.24256	N	0.040129	T	0.72590	0.3479	N	0.19112	0.55	0.28710	N	0.903629	B	0.18310	0.027	B	0.14578	0.011	T	0.55792	-0.8085	10	0.08381	T	0.77	.	14.2843	0.66235	0.0:0.0:1.0:0.0	.	45	Q92911	SC5A5_HUMAN	K	45	ENSP00000222248:E45K	ENSP00000222248:E45K	E	+	1	0	SLC5A5	17844261	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.849000	0.55910	2.052000	0.61016	0.485000	0.47835	GAG	SLC5A5	-	pfscan_Na/solute_symporter	ENSG00000105641		0.716	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	43	0.00	0	G			17983261	17983261	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.990	A
SLC6A17	388662	genome.wustl.edu	37	1	110737302	110737302	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:110737302C>T	ENST00000331565.4	+	9	1886	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	467					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGCTTATCAACCTGGGCC	0.592																																						dbGAP											0													158.0	112.0	128.0					1																	110737302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1401C>T	1.37:g.110737302C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.I467	ENST00000331565.4	37	c.1401	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000197106		0.592	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	137	0.00	0	C	XM_371280		110737302	110737302	+1	no_errors	ENST00000331565	ensembl	human	known	69_37n	silent	80	11.11	10	SNP	1.000	T
SLC8A2	6543	genome.wustl.edu	37	19	47940726	47940726	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:47940726C>T	ENST00000236877.6	-	8	2498	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	SLC8A2_ENST00000539381.1_Silent_p.V164V|SLC8A2_ENST00000542837.1_Silent_p.V457V|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	701					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TACCTGCGCTCACCGTAATTG	0.493																																						dbGAP											0													137.0	122.0	127.0					19																	47940726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2103G>A	19.37:g.47940726C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYQ9	Silent	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.V701	ENST00000236877.6	37	c.2103	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.493	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	482	0.21	1	C			47940726	47940726	-1	no_errors	ENST00000236877	ensembl	human	known	69_37n	silent	315	10.51	37	SNP	1.000	T
SLC8A3	6547	genome.wustl.edu	37	14	70634612	70634612	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:70634612G>A	ENST00000381269.2	-	2	1281	c.528C>T	c.(526-528)ttC>ttT	p.F176F	SLC8A3_ENST00000357887.3_Silent_p.F176F|SLC8A3_ENST00000528359.1_Silent_p.F176F|SLC8A3_ENST00000534137.1_Silent_p.F176F|SLC8A3_ENST00000356921.2_Silent_p.F176F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	176					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAACATGTTGAAGGCTGCAC	0.493																																						dbGAP											0													96.0	85.0	89.0					14																	70634612		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.528C>T	14.37:g.70634612G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.F176	ENST00000381269.2	37	c.528	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000100678		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	103	0.00	0	G			70634612	70634612	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	silent	73	15.12	13	SNP	1.000	A
SLC9A9	285195	genome.wustl.edu	37	3	143185984	143185984	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:143185984G>A	ENST00000316549.6	-	12	1572	c.1364C>T	c.(1363-1365)tCt>tTt	p.S455F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	455					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						TTTGGGCTGAGATTCTGTGTT	0.463																																						dbGAP											0													164.0	137.0	146.0					3																	143185984		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1364C>T	3.37:g.143185984G>A	ENSP00000320246:p.Ser455Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S455F	ENST00000316549.6	37	c.1364	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563593	0.86335	.	.	ENSG00000181804	ENST00000316549	T	0.29142	1.58	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.71920	2.185	0.58432	D	0.999997	D	0.76494	0.999	D	0.72338	0.977	T	0.54255	-0.8321	10	0.48119	T	0.1	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	455	Q8IVB4	SL9A9_HUMAN	F	455	ENSP00000320246:S455F	ENSP00000320246:S455F	S	-	2	0	SLC9A9	144668674	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	9.441000	0.97557	2.709000	0.92574	0.655000	0.94253	TCT	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.463	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	259	0.00	0	G	NM_173653		143185984	143185984	-1	no_errors	ENST00000316549	ensembl	human	known	69_37n	missense	128	12.33	18	SNP	0.998	A
SMARCA5	8467	genome.wustl.edu	37	4	144457714	144457714	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:144457714C>T	ENST00000283131.3	+	11	1840	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	460					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTGTAATCATCCATATCTCTT	0.388																																						dbGAP											0													114.0	107.0	110.0					4																	144457714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1378C>T	4.37:g.144457714C>T	ENSP00000283131:p.Pro460Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P460S	ENST00000283131.3	37	c.1378	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011011	0.93346	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.80393	-1.37	5.41	5.41	0.78517	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93900	0.8048	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95619	0.8679	10	0.87932	D	0	0.0023	19.5745	0.95436	0.0:1.0:0.0:0.0	.	460	O60264	SMCA5_HUMAN	S	460;403;403	ENSP00000283131:P460S	ENSP00000283131:P460S	P	+	1	0	SMARCA5	144677164	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	6.020000	0.70826	2.713000	0.92767	0.655000	0.94253	CCA	SMARCA5	-	pfam_SNF2_N,pfam_HDA_complex_subunit-2/3	ENSG00000153147		0.388	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	208	0.00	0	C			144457714	144457714	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	T
SMARCB1	6598	genome.wustl.edu	37	22	24129447	24129447	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr22:24129447G>A	ENST00000263121.7	+	1	287	c.91G>A	c.(91-93)Gag>Aag	p.E31K	SMARCB1_ENST00000407422.3_Missense_Mutation_p.E31K|SMARCB1_ENST00000407082.3_Missense_Mutation_p.E31K|SMARCB1_ENST00000344921.6_Missense_Mutation_p.E31K	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	31					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GATCGGCTCCGAGGTAGCCCG	0.701			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																dbGAP	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	2	Unknown(2)	soft_tissue(2)											37.0	42.0	41.0					22																	24129447		2201	4298	6499	-	-	-	SO:0001583	missense	0			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.91G>A	22.37:g.24129447G>A	ENSP00000263121:p.Glu31Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.E31K	ENST00000263121.7	37	c.91	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.124300	0.97305	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	3.22	3.22	0.36961	.	0.124682	0.64402	D	0.000017	D	0.95456	0.8524	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;0.998;0.961;0.989;0.989;0.643	D;P;P;P;P;B	0.80764	0.994;0.724;0.699;0.651;0.651;0.058	D	0.95966	0.8966	10	0.87932	D	0	-22.1463	14.7082	0.69208	0.0:0.0:1.0:0.0	.	31;31;31;31;31;31	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	K	31	ENSP00000388489:E31K;ENSP00000340883:E31K;ENSP00000263121:E31K;ENSP00000383984:E31K;ENSP00000385226:E31K	ENSP00000263121:E31K	E	+	1	0	SMARCB1	22459447	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.118000	0.64928	0.478000	0.44815	GAG	SMARCB1	-	pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.701	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	22	0.00	0	G	NM_003073		24129447	24129447	+1	no_errors	ENST00000263121	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	1.000	A
SMC2	10592	genome.wustl.edu	37	9	106877035	106877035	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:106877035G>C	ENST00000286398.7	+	13	1884	c.1596G>C	c.(1594-1596)gtG>gtC	p.V532V	SMC2_ENST00000374793.3_Silent_p.V532V|SMC2_ENST00000303219.8_Silent_p.V532V|SMC2_ENST00000374787.3_Silent_p.V532V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	532	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGATTAGTGTGAAAGACACTT	0.343																																						dbGAP											0													97.0	97.0	97.0					9																	106877035		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1596G>C	9.37:g.106877035G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.V532	ENST00000286398.7	37	c.1596	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000136824		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	329	0.00	0	G			106877035	106877035	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	silent	167	20.10	42	SNP	0.997	C
SMC3	9126	genome.wustl.edu	37	10	112340694	112340694	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:112340694G>C	ENST00000361804.4	+	8	588	c.462G>C	c.(460-462)caG>caC	p.Q154H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	154					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAGATTCTCAGAGATTAAAGC	0.358																																						dbGAP											0													85.0	84.0	84.0					10																	112340694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.462G>C	10.37:g.112340694G>C	ENSP00000354720:p.Gln154His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.Q154H	ENST00000361804.4	37	c.462	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512118	0.27036	.	.	ENSG00000108055	ENST00000361804	D	0.90955	-2.76	5.63	2.75	0.32379	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	N	0.13168	0.305	0.58432	D	0.99999	B	0.16396	0.017	B	0.19946	0.027	T	0.75847	-0.3173	10	0.48119	T	0.1	.	8.6364	0.33950	0.3323:0.0:0.6677:0.0	.	154	Q9UQE7	SMC3_HUMAN	H	154	ENSP00000354720:Q154H	ENSP00000354720:Q154H	Q	+	3	2	SMC3	112330684	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.131000	0.50515	1.396000	0.46663	0.579000	0.79373	CAG	SMC3	-	pfam_RecF/RecN/SMC	ENSG00000108055		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	159	0.00	0	G	NM_005445		112340694	112340694	+1	no_errors	ENST00000361804	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	1.000	C
SMTNL2	342527	genome.wustl.edu	37	17	4496467	4496467	+	Splice_Site	SNP	G	G	T	rs202160684	byFrequency	TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:4496467G>T	ENST00000389313.4	+	3	797		c.e3+1		SMTNL2_ENST00000338859.4_Splice_Site	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2									p.?(17)		breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGTCCTAGCGGTATGAGCTGG	0.657																																						dbGAP											17	Unknown(17)	endometrium(16)|breast(1)											31.0	33.0	33.0					17																	4496467		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.730+1G>T	17.37:g.4496467G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVK6	Splice_Site	SNP	-	e3+1	ENST00000389313.4	37	c.730+1	CCDS45583.1	17	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990579	0.35131	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5337	0.67944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTNL2	4443216	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.181000	0.50903	2.722000	0.93159	0.655000	0.94253	.	SMTNL2	-	-	ENSG00000188176		0.657	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMTNL2	HGNC	protein_coding	OTTHUMT00000439129.1	49	0.00	0	G	NM_198501	Intron	4496467	4496467	+1	no_errors	ENST00000389313	ensembl	human	known	69_37n	splice_site	23	25.81	8	SNP	0.999	T
SMYD5	10322	genome.wustl.edu	37	2	73451124	73451124	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:73451124G>A	ENST00000389501.4	+	10	978	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	311	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTGTGCTTCAGAGCTGCTGTG	0.488																																						dbGAP											0													220.0	199.0	206.0					2																	73451124		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.933G>A	2.37:g.73451124G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5H3|Q13558	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.Q311	ENST00000389501.4	37	c.933	CCDS33221.2	2																																																																																			SMYD5	-	pfam_SET_dom,smart_SET_dom	ENSG00000135632		0.488	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	421	0.00	0	G	NM_006062		73451124	73451124	+1	no_errors	ENST00000389501	ensembl	human	known	69_37n	silent	145	22.34	42	SNP	1.000	A
SMYD5	10322	genome.wustl.edu	37	2	73452827	73452827	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:73452827C>T	ENST00000389501.4	+	12	1149	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	368							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ACAAGATCCTCAGGTGCCAGC	0.602																																						dbGAP											0													138.0	152.0	147.0					2																	73452827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1104C>T	2.37:g.73452827C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5H3|Q13558	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L368	ENST00000389501.4	37	c.1104	CCDS33221.2	2																																																																																			SMYD5	-	NULL	ENSG00000135632		0.602	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	168	0.00	0	C	NM_006062		73452827	73452827	+1	no_errors	ENST00000389501	ensembl	human	known	69_37n	silent	79	16.84	16	SNP	1.000	T
SORT1	6272	genome.wustl.edu	37	1	109896991	109896991	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:109896991C>T	ENST00000256637.6	-	5	764	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	SORT1_ENST00000482236.1_5'Flank|SORT1_ENST00000538502.1_Missense_Mutation_p.E100K	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	236					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGACTTACTTCAGTGCTGAGA	0.373																																						dbGAP											0													106.0	104.0	105.0					1																	109896991		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.706G>A	1.37:g.109896991C>T	ENSP00000256637:p.Glu236Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.E236K	ENST00000256637.6	37	c.706	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770181	0.49680	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	VPS10 (1);	0.423362	0.28482	N	0.015188	T	0.06872	0.0175	N	0.04018	-0.295	0.43632	D	0.996022	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19321	-1.0309	10	0.09843	T	0.71	-9.4426	17.963	0.89091	0.0:1.0:0.0:0.0	.	100;236	B4DWI3;Q99523	.;SORT_HUMAN	K	236;100	ENSP00000256637:E236K;ENSP00000438597:E100K	ENSP00000256637:E236K	E	-	1	0	SORT1	109698514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.386000	0.52492	2.515000	0.84797	0.655000	0.94253	GAA	SORT1	-	smart_VPS10	ENSG00000134243		0.373	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	183	0.00	0	C	NM_002959		109896991	109896991	-1	no_errors	ENST00000256637	ensembl	human	known	69_37n	missense	94	10.48	11	SNP	1.000	T
SP140	11262	genome.wustl.edu	37	2	231155266	231155266	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:231155266G>T	ENST00000392045.3	+	19	1926	c.1812G>T	c.(1810-1812)aaG>aaT	p.K604N	SP140_ENST00000350136.5_Missense_Mutation_p.K473N|SP140_ENST00000343805.6_Missense_Mutation_p.K544N|SP140_ENST00000486687.2_Missense_Mutation_p.K528N|SP140_ENST00000420434.3_Missense_Mutation_p.K577N|SP140_ENST00000417495.3_Missense_Mutation_p.K490N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	604	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACATAAGAAGAAATTGCAGC	0.398																																						dbGAP											0													140.0	134.0	136.0					2																	231155266		1875	4101	5976	-	-	-	SO:0001583	missense	0			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1812G>T	2.37:g.231155266G>T	ENSP00000375899:p.Lys604Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.K604N	ENST00000392045.3	37	c.1812	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249767	0.39797	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	3.06	-0.476	0.12100	SAND domain-like (2);SAND domain (3);	.	.	.	.	T	0.74435	0.3716	L	0.38838	1.175	0.09310	N	1	D;P;P;P	0.61697	0.99;0.895;0.936;0.951	D;B;P;P	0.64042	0.921;0.354;0.654;0.684	T	0.63033	-0.6727	9	0.72032	D	0.01	-2.4437	6.1569	0.20342	0.0:0.3903:0.4105:0.1992	.	577;490;544;604	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	N	528;473;604;490;544;577	ENSP00000440107:K528N;ENSP00000345846:K473N;ENSP00000375899:K604N;ENSP00000342096:K544N;ENSP00000398210:K577N	ENSP00000342096:K544N	K	+	3	2	SP140	230863510	0.005000	0.15991	0.007000	0.13788	0.191000	0.23601	-0.772000	0.04694	-0.250000	0.09555	0.456000	0.33151	AAG	SP140	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000079263		0.398	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	484	0.00	0	G	NM_007237		231155266	231155266	+1	no_errors	ENST00000392045	ensembl	human	known	69_37n	missense	226	13.08	34	SNP	0.358	T
NPR2	4882	genome.wustl.edu	37	9	35810295	35810295	+	IGR	SNP	G	G	T	rs200361561		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:35810295G>T	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.Y404*|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Nonsense_Mutation_p.Y404*|SPAG8_ENST00000484764.1_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTCCTGGCGGTAGTCGTGAG	0.607																																						dbGAP											0													163.0	160.0	161.0					9																	35810295		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810295G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	prints_Antifreeze_1	p.Y404*	ENST00000342694.2	37	c.1212	CCDS6590.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556023|3.556023	0.65425|0.65425	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000396638	.|.	.|.	.|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	.|0.000000	.|0.51477	.|D	.|0.000099	T|.	0.32376|.	0.0827|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15206|.	-1.0445|.	4|.	.|0.02654	.|T	.|1	-14.758|-14.758	11.2087|11.2087	0.48784|0.48784	0.085:0.0:0.915:0.0|0.085:0.0:0.915:0.0	.|.	.|.	.|.	.|.	N|X	402|404	.|.	.|ENSP00000340982:Y404X	T|Y	-|-	2|3	0|2	SPAG8|SPAG8	35800295|35800295	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.788000|0.788000	0.44548|0.44548	2.965000|2.965000	0.49200|0.49200	1.295000|1.295000	0.44724|0.44724	0.655000|0.655000	0.94253|0.94253	ACC|TAC	SPAG8	-	NULL	ENSG00000137098		0.607	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	225	0.00	0	G			35810295	35810295	-1	no_errors	ENST00000340291	ensembl	human	known	69_37n	nonsense	143	11.18	18	SNP	0.959	T
SPATA6	54558	genome.wustl.edu	37	1	48877186	48877186	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:48877186G>T	ENST00000371847.3	-	5	519	c.355C>A	c.(355-357)Cac>Aac	p.H119N	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Missense_Mutation_p.H119N|SPATA6_ENST00000396199.3_Missense_Mutation_p.H47N	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAATCATGGTGTCCAGACATT	0.413																																						dbGAP											0													108.0	94.0	99.0					1																	48877186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.355C>A	1.37:g.48877186G>T	ENSP00000360913:p.His119Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.H119N	ENST00000371847.3	37	c.355	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287233	0.59867	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.12879	2.69;2.69;2.64	5.03	5.03	0.67393	.	0.192156	0.45606	D	0.000360	T	0.31670	0.0804	L	0.54323	1.7	0.42084	D	0.991266	P;D;D;D	0.61080	0.642;0.974;0.989;0.989	B;P;D;D	0.72982	0.232;0.794;0.979;0.979	T	0.00609	-1.1646	10	0.40728	T	0.16	.	15.2103	0.73219	0.0:0.0:1.0:0.0	.	47;47;119;119	B4DX17;A8MU33;Q9NWH7-2;Q9NWH7	.;.;.;SPAT6_HUMAN	N	119;119;47	ENSP00000360913:H119N;ENSP00000360909:H119N;ENSP00000379502:H47N	ENSP00000360909:H119N	H	-	1	0	SPATA6	48649773	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.740000	0.55082	2.631000	0.89168	0.655000	0.94253	CAC	SPATA6	-	NULL	ENSG00000132122		0.413	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	180	0.00	0	G	NM_019073		48877186	48877186	-1	no_errors	ENST00000371847	ensembl	human	known	69_37n	missense	76	23.23	23	SNP	1.000	T
SPEF2	79925	genome.wustl.edu	37	5	35763751	35763751	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:35763751G>A	ENST00000356031.3	+	26	3902	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K	SPEF2_ENST00000440995.2_Missense_Mutation_p.E1245K|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1250					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGCCGATGAAAAGTTGGT	0.408																																						dbGAP											0													135.0	130.0	132.0					5																	35763751		1890	4119	6009	-	-	-	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3748G>A	5.37:g.35763751G>A	ENSP00000348314:p.Glu1250Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E1250K	ENST00000356031.3	37	c.3748	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760828	0.69763	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08634	3.07;3.3	6.08	6.08	0.98989	.	0.171410	0.51477	D	0.000086	T	0.31295	0.0792	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.00096	-1.2073	10	0.35671	T	0.21	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	1245;1250	Q9C093-2;Q9C093	.;SPEF2_HUMAN	K	1250;1245	ENSP00000348314:E1250K;ENSP00000412125:E1245K	ENSP00000348314:E1250K	E	+	1	0	SPEF2	35799508	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	4.340000	0.59328	2.894000	0.99253	0.591000	0.81541	GAA	SPEF2	-	NULL	ENSG00000152582		0.408	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	249	0.00	0	G	NM_144722		35763751	35763751	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	missense	109	34.73	58	SNP	1.000	A
SPRED1	161742	genome.wustl.edu	37	15	38614607	38614607	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:38614607C>G	ENST00000299084.4	+	3	1233	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	125					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGATATTTCTCAAGGTAGGTA	0.343									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	dbGAP											0													116.0	122.0	120.0					15																	38614607		2200	4297	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.373C>G	15.37:g.38614607C>G	ENSP00000299084:p.Gln125Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.Q125E	ENST00000299084.4	37	c.373	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	C	7.785	0.710327	0.15239	.	.	ENSG00000166068	ENST00000299084	D	0.85484	-1.99	5.71	4.79	0.61399	.	0.048714	0.85682	D	0.000000	T	0.73598	0.3607	N	0.25144	0.715	0.45762	D	0.998656	B	0.25486	0.127	B	0.21360	0.034	T	0.69053	-0.5247	10	0.02654	T	1	-15.4098	16.7769	0.85553	0.0:0.871:0.129:0.0	.	125	Q7Z699	SPRE1_HUMAN	E	125	ENSP00000299084:Q125E	ENSP00000299084:Q125E	Q	+	1	0	SPRED1	36401899	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.937000	0.56575	1.408000	0.46895	0.585000	0.79938	CAA	SPRED1	-	NULL	ENSG00000166068		0.343	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	306	0.00	0	C			38614607	38614607	+1	no_errors	ENST00000299084	ensembl	human	known	69_37n	missense	110	16.03	21	SNP	1.000	G
SPTLC1	10558	genome.wustl.edu	37	9	94871025	94871025	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:94871025G>A	ENST00000262554.2	-	3	262	c.257C>T	c.(256-258)tCa>tTa	p.S86L	SPTLC1_ENST00000337841.4_Missense_Mutation_p.S86L|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	86					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AATTTACCCTGAAACGATGTT	0.398																																						dbGAP											0													29.0	30.0	29.0					9																	94871025		2201	4280	6481	-	-	-	SO:0001583	missense	0			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.257C>T	9.37:g.94871025G>A	ENSP00000262554:p.Ser86Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S86L	ENST00000262554.2	37	c.257	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643364	0.47153	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	T;T	0.71579	-0.58;-0.58	4.85	3.88	0.44766	Pyridoxal phosphate-dependent transferase, major domain (1);	0.064517	0.64402	D	0.000006	T	0.63177	0.2489	L	0.43152	1.355	0.51482	D	0.999928	B;B;B;B	0.32753	0.071;0.383;0.097;0.023	B;B;B;B	0.33620	0.065;0.167;0.066;0.045	T	0.65936	-0.6047	10	0.45353	T	0.12	.	13.7828	0.63091	0.0:0.1551:0.8449:0.0	.	86;86;81;86	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	L	86	ENSP00000262554:S86L;ENSP00000337635:S86L	ENSP00000262554:S86L	S	-	2	0	SPTLC1	93910846	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.725000	0.61979	2.400000	0.81607	0.557000	0.71058	TCA	SPTLC1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000090054		0.398	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	106	0.00	0	G	NM_006415		94871025	94871025	-1	no_errors	ENST00000262554	ensembl	human	known	69_37n	missense	69	15.85	13	SNP	1.000	A
ST6GALNAC5	81849	genome.wustl.edu	37	1	77509966	77509966	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:77509966G>C	ENST00000477717.1	+	3	574	c.339G>C	c.(337-339)caG>caC	p.Q113H		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	113					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AAGGCTCCCAGATTGACCAGA	0.617																																						dbGAP											0													58.0	53.0	55.0					1																	77509966		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.339G>C	1.37:g.77509966G>C	ENSP00000417583:p.Gln113His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK82	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q113H	ENST00000477717.1	37	c.339	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982439	0.34942	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30182	1.54	5.63	2.29	0.28610	.	0.467826	0.25369	N	0.031177	T	0.12220	0.0297	L	0.39397	1.21	0.32594	N	0.526823	B	0.02656	0.0	B	0.10450	0.005	T	0.10660	-1.0620	10	0.62326	D	0.03	-24.7434	12.4354	0.55596	0.0747:0.4095:0.5158:0.0	.	113	Q9BVH7	SIA7E_HUMAN	H	113;23	ENSP00000417583:Q113H	ENSP00000436263:Q113H	Q	+	3	2	ST6GALNAC5	77282554	1.000000	0.71417	0.989000	0.46669	0.766000	0.43426	1.800000	0.38833	0.608000	0.30000	0.591000	0.81541	CAG	ST6GALNAC5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000117069		0.617	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2	29	0.00	0	G	NM_030965		77509966	77509966	+1	no_errors	ENST00000477717	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.972	C
SRGAP2	23380	genome.wustl.edu	37	1	206603567	206603567	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:206603567G>C	ENST00000414007.1	+	10	1130	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	517	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTTATCAGCAGACACGGTAAG	0.438																																						dbGAP											0													171.0	162.0	165.0					1																	206603567		1902	4119	6021	-	-	-	SO:0001583	missense	0			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1130G>C	1.37:g.206603567G>C	ENSP00000390898:p.Arg377Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q430H	ENST00000414007.1	37	c.1290		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.000175|4.000175	0.74818|0.74818	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000439126	.|T;T	.|0.19394	.|2.15;2.15	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28830|0.28830	0.0715|0.0715	.|.	.|.	.|.	.|.	.|.	.|.	.|P;B	.|0.43578	.|0.811;0.324	.|P;P	.|0.47376	.|0.527;0.545	T|T	0.00632|0.00632	-1.1635|-1.1635	3|8	.|0.18710	.|T	.|0.47	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|364;517	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	H|T	430|430;377;131	.|ENSP00000390898:R377T;ENSP00000403036:R131T	.|ENSP00000390898:R377T	Q|R	+|+	3|2	2|0	SRGAP2|SRGAP2	204670190|204670190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.893000|3.893000	0.56243|0.56243	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|AGA	SRGAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000163486		0.438	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	HGNC	protein_coding		217	0.00	0	G	NM_015326		206603567	206603567	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000295713	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	C
STARD9	57519	genome.wustl.edu	37	15	42982015	42982015	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:42982015C>G	ENST00000290607.7	+	23	8296	c.8239C>G	c.(8239-8241)Cag>Gag	p.Q2747E		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2747					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CTTACCTTCTCAGGCCCCTTA	0.552																																						dbGAP											0													38.0	37.0	38.0					15																	42982015		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.8239C>G	15.37:g.42982015C>G	ENSP00000290607:p.Gln2747Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q2747E	ENST00000290607.7	37	c.8239	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032041	0.54790	.	.	ENSG00000159433	ENST00000290607	T	0.66995	-0.24	5.52	3.55	0.40652	.	1.295360	0.05348	N	0.531275	T	0.65698	0.2716	L	0.46157	1.445	0.09310	N	1	.	.	.	.	.	.	T	0.55315	-0.8160	8	0.72032	D	0.01	.	6.3143	0.21182	0.1791:0.7229:0.0:0.0981	.	.	.	.	E	2747	ENSP00000290607:Q2747E	ENSP00000290607:Q2747E	Q	+	1	0	STARD9	40769307	0.395000	0.25254	0.629000	0.29254	0.642000	0.38348	0.756000	0.26419	0.611000	0.30052	0.563000	0.77884	CAG	STARD9	-	NULL	ENSG00000159433		0.552	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	80	0.00	0	C			42982015	42982015	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.015	G
STXBP3	6814	genome.wustl.edu	37	1	109336203	109336203	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:109336203G>C	ENST00000370008.3	+	12	1013		c.e12-1			NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTTTTCCTAGACATCACTTA	0.323																																						dbGAP											0													102.0	101.0	101.0					1																	109336203		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.964-1G>C	1.37:g.109336203G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Splice_Site	SNP	-	e12-1	ENST00000370008.3	37	c.964-1	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265215	0.80358	.	.	ENSG00000116266	ENST00000370008	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0952	0.93248	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP3	109137726	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.244000	0.89823	2.591000	0.87537	0.563000	0.77884	.	STXBP3	-	-	ENSG00000116266		0.323	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	236	0.00	0	G	NM_007269	Intron	109336203	109336203	+1	no_errors	ENST00000370008	ensembl	human	known	69_37n	splice_site	113	20.98	30	SNP	1.000	C
SUPT16H	11198	genome.wustl.edu	37	14	21831012	21831012	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:21831012C>T	ENST00000216297.2	-	14	1944	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	536					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATTACAGTCTCATATTTCTTA	0.423																																						dbGAP											0													160.0	145.0	150.0					14																	21831012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1606G>A	14.37:g.21831012C>T	ENSP00000216297:p.Glu536Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.E536K	ENST00000216297.2	37	c.1606	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.620060	0.96660	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.83406	0.0025	9	0.41790	T	0.15	-19.1447	18.7425	0.91779	0.0:1.0:0.0:0.0	.	536	Q9Y5B9	SP16H_HUMAN	K	536	.	ENSP00000216297:E536K	E	-	1	0	SUPT16H	20900852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.013000	0.76373	2.721000	0.93114	0.655000	0.94253	GAG	SUPT16H	-	pfam_FACT_Spt16p	ENSG00000092201		0.423	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	216	0.00	0	C			21831012	21831012	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	132	21.43	36	SNP	1.000	T
SUPT16H	11198	genome.wustl.edu	37	14	21833277	21833277	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:21833277C>T	ENST00000216297.2	-	9	1410	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	358					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGGAGCCTTCACGGAATTCA	0.343																																						dbGAP											0													108.0	98.0	101.0					14																	21833277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1072G>A	14.37:g.21833277C>T	ENSP00000216297:p.Glu358Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.E358K	ENST00000216297.2	37	c.1072	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.610795	0.96637	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	D	0.81908	-1.55	5.65	5.65	0.86999	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.92750	0.7695	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93642	0.6965	10	0.87932	D	0	-21.6669	18.4787	0.90802	0.0:1.0:0.0:0.0	.	358	Q9Y5B9	SP16H_HUMAN	K	358	ENSP00000216297:E358K	ENSP00000216297:E358K	E	-	1	0	SUPT16H	20903117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.232000	0.78116	2.662000	0.90505	0.591000	0.81541	GAA	SUPT16H	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000092201		0.343	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	328	0.00	0	C			21833277	21833277	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	171	23.66	53	SNP	1.000	T
SWT1	54823	genome.wustl.edu	37	1	185144036	185144036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:185144036delT	ENST00000367500.4	+	5	922	c.757delT	c.(757-759)ttcfs	p.F253fs	SWT1_ENST00000367501.3_Frame_Shift_Del_p.F253fs	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	253										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAAATGTCTTCAACATAGA	0.378																																						dbGAP											0													67.0	75.0	72.0					1																	185144036		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.757delT	1.37:g.185144036delT	ENSP00000356470:p.Phe253fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Frame_Shift_Del	DEL	smart_PINc_nuc-bd	p.F253fs	ENST00000367500.4	37	c.757	CCDS1367.1	1																																																																																			SWT1	-	NULL	ENSG00000116668		0.378	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	38	0.00	0	T	NM_017673		185144036	185144036	+1	no_errors	ENST00000367500	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.148	-
SYNE2	23224	genome.wustl.edu	37	14	64599109	64599109	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:64599109G>C	ENST00000344113.4	+	77	14679	c.14467G>C	c.(14467-14469)Gaa>Caa	p.E4823Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1457Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4740Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1208Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4823Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1208Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4823					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E4823Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAATACTAGAAGAAAAGTC	0.383																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											86.0	91.0	89.0					14																	64599109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14467G>C	14.37:g.64599109G>C	ENSP00000341781:p.Glu4823Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4823Q	ENST00000344113.4	37	c.14467	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.922	1.212350	0.22289	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56611	0.8;4.13;0.81;0.45;4.16;4.13	5.67	4.76	0.60689	.	0.113197	0.38058	N	0.001822	T	0.47414	0.1444	L	0.50333	1.59	0.80722	D	1	B;B;P	0.38827	0.036;0.201;0.649	B;B;B	0.39876	0.087;0.113;0.312	T	0.36962	-0.9726	10	0.14656	T	0.56	.	14.3066	0.66389	0.0:0.1483:0.8517:0.0	.	1208;4823;4823	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4823;1208;4823;4740;4740;1457;1208	ENSP00000350719:E4823Q;ENSP00000349969:E1208Q;ENSP00000341781:E4823Q;ENSP00000452570:E4740Q;ENSP00000450831:E1457Q;ENSP00000378249:E1208Q	ENSP00000261678:E4740Q	E	+	1	0	SYNE2	63668862	1.000000	0.71417	0.465000	0.27155	0.497000	0.33675	4.036000	0.57304	1.480000	0.48289	0.655000	0.94253	GAA	SYNE2	-	NULL	ENSG00000054654		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	189	0.00	0	G	NM_182914		64599109	64599109	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	0.997	C
SYTL4	94121	genome.wustl.edu	37	X	99931013	99931013	+	3'UTR	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:99931013G>A	ENST00000372989.1	-	0	2359				RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000276141.6_3'UTR|SYTL4_ENST00000263033.5_3'UTR|SYTL4_ENST00000454200.2_3'UTR|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000455616.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCTGCAGAAGAGGACAGGGA	0.502																																						dbGAP											0													77.0	56.0	63.0					X																	99931013		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.*12C>T	X.37:g.99931013G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	RNA	SNP	-	NULL	ENST00000372989.1	37	NULL	CCDS14472.1	X																																																																																			SYTL4	-	-	ENSG00000102362		0.502	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	152	0.00	0	G	NM_080737		99931013	99931013	-1	no_errors	ENST00000491602	ensembl	human	known	69_37n	rna	77	15.38	14	SNP	0.000	A
SZT2	23334	genome.wustl.edu	37	1	43896998	43896998	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:43896998C>G	ENST00000562955.1	+	33	4808	c.4808C>G	c.(4807-4809)tCa>tGa	p.S1603*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.S761*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1660					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTTTAAGGTCAGATGATGGC	0.493																																						dbGAP											0													141.0	150.0	147.0					1																	43896998		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4808C>G	1.37:g.43896998C>G	ENSP00000457168:p.Ser1603*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	NULL	p.S1603*	ENST00000562955.1	37	c.4808	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	43	10.315168	0.99381	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1342	0.93420	0.0:1.0:0.0:0.0	.	.	.	.	X	761	.	ENSP00000361519:S761X	S	+	2	0	SZT2	43669585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.994000	0.76251	2.595000	0.87683	0.563000	0.77884	TCA	SZT2	-	NULL	ENSG00000198198		0.493	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	137	0.00	0	C	NM_015284		43896998	43896998	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	nonsense	67	18.29	15	SNP	1.000	G
TACR2	6865	genome.wustl.edu	37	10	71164725	71164725	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:71164725G>A	ENST00000373306.4	-	5	1597	c.1054C>T	c.(1054-1056)Cac>Tac	p.H352Y	TACR2_ENST00000373307.1_Missense_Mutation_p.H140Y	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	352					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTTAGTGTGACACCTGTTG	0.617																																						dbGAP											0													139.0	127.0	131.0					10																	71164725		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.1054C>T	10.37:g.71164725G>A	ENSP00000362403:p.His352Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.H352Y	ENST00000373306.4	37	c.1054	CCDS7293.1	10	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723443	0.30593	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.71934	0.14;-0.61	5.42	5.42	0.78866	.	0.256644	0.42053	D	0.000761	T	0.62563	0.2438	M	0.64997	1.995	0.36809	D	0.885765	B	0.12630	0.006	B	0.09377	0.004	T	0.58476	-0.7630	10	0.05351	T	0.99	.	12.8155	0.57663	0.0:0.1642:0.8358:0.0	.	352	P21452	NK2R_HUMAN	Y	140;352	ENSP00000362404:H140Y;ENSP00000362403:H352Y	ENSP00000362403:H352Y	H	-	1	0	TACR2	70834731	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	2.402000	0.44521	2.694000	0.91930	0.655000	0.94253	CAC	TACR2	-	prints_NK2_rcpt	ENSG00000075073		0.617	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	235	0.00	0	G			71164725	71164725	-1	no_errors	ENST00000373306	ensembl	human	known	69_37n	missense	137	10.46	16	SNP	1.000	A
TACR3	6870	genome.wustl.edu	37	4	104577395	104577395	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:104577395C>G	ENST00000304883.2	-	3	984	c.844G>C	c.(844-846)Gat>Cat	p.D282H		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	282					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCACAGGTATCTCCTGGGATT	0.398																																						dbGAP											0													144.0	142.0	142.0					4																	104577395		2203	4300	6503	-	-	-	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.844G>C	4.37:g.104577395C>G	ENSP00000303325:p.Asp282His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P510	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.D282H	ENST00000304883.2	37	c.844	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419437	0.62622	.	.	ENSG00000169836	ENST00000304883	T	0.72505	-0.66	5.52	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	L	0.42245	1.32	0.58432	D	0.999999	P	0.38504	0.634	B	0.43658	0.426	T	0.65022	-0.6269	10	0.30854	T	0.27	.	13.4995	0.61445	0.0:0.9249:0.0:0.0751	.	282	P29371	NK3R_HUMAN	H	282	ENSP00000303325:D282H	ENSP00000303325:D282H	D	-	1	0	TACR3	104796844	1.000000	0.71417	0.886000	0.34754	0.973000	0.67179	5.149000	0.64863	1.451000	0.47736	0.650000	0.86243	GAT	TACR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt	ENSG00000169836		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	180	0.55	1	C	NM_001059		104577395	104577395	-1	no_errors	ENST00000304883	ensembl	human	known	69_37n	missense	77	31.90	37	SNP	1.000	G
TANC2	26115	genome.wustl.edu	37	17	61473154	61473154	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:61473154C>G	ENST00000424789.2	+	16	2884	c.2880C>G	c.(2878-2880)ctC>ctG	p.L960L	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.L960L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	960					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATGCTGCACTCCGAGGTCATC	0.502																																						dbGAP											0													105.0	108.0	107.0					17																	61473154		2109	4227	6336	-	-	-	SO:0001819	synonymous_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2880C>G	17.37:g.61473154C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S889C	ENST00000424789.2	37	c.2666	CCDS45754.1	17																																																																																			TANC2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170921		0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	365	0.00	0	C			61473154	61473154	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583356	ensembl	human	putative	69_37n	missense	302	11.70	40	SNP	0.985	G
TARBP1	6894	genome.wustl.edu	37	1	234527427	234527427	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:234527427G>C	ENST00000040877.1	-	30	4761	c.4762C>G	c.(4762-4764)Caa>Gaa	p.Q1588E	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1588	S-adenosyl-L-methionine binding. {ECO:0000269|PubMed:18412263}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGCCCTGTTGAGGAATTTCC	0.493																																						dbGAP											0													71.0	60.0	64.0					1																	234527427		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4762C>G	1.37:g.234527427G>C	ENSP00000040877:p.Gln1588Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.Q1588E	ENST00000040877.1	37	c.4762	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722110	0.89298	.	.	ENSG00000059588	ENST00000040877	T	0.43688	0.94	5.47	5.47	0.80525	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.83019	-0.0168	10	0.87932	D	0	-20.6005	19.3005	0.94143	0.0:0.0:1.0:0.0	.	1588	Q13395	TARB1_HUMAN	E	1588	ENSP00000040877:Q1588E	ENSP00000040877:Q1588E	Q	-	1	0	TARBP1	232594050	1.000000	0.71417	0.868000	0.34077	0.877000	0.50540	9.829000	0.99411	2.575000	0.86900	0.591000	0.81541	CAA	TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.493	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	75	0.00	0	G	NM_005646		234527427	234527427	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	1.000	C
MAP3K12	7786	genome.wustl.edu	37	12	53895905	53895905	+	5'Flank	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:53895905G>T	ENST00000267079.2	-	0	0				TARBP2_ENST00000266987.2_Nonsense_Mutation_p.E54*|TARBP2_ENST00000394357.2_Nonsense_Mutation_p.E33*|MAP3K12_ENST00000547488.1_5'Flank|MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000456234.2_Nonsense_Mutation_p.E33*|TARBP2_ENST00000549028.1_3'UTR|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Intron	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCTCAAAGCCGAGGGCCAAGC	0.607																																						dbGAP											0													92.0	78.0	83.0					12																	53895905		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895905G>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Nonsense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.E54*	ENST00000267079.2	37	c.160	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.463961	0.96257	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	.	.	.	3.95	3.95	0.45737	.	0.114616	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-24.7365	15.2673	0.73672	0.0:0.0:1.0:0.0	.	.	.	.	X	54;33;54;33	.	ENSP00000266987:E54X	E	+	1	0	TARBP2	52182172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.187000	0.94912	2.197000	0.70478	0.467000	0.42956	GAG	TARBP2	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000139546		0.607	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TARBP2	HGNC	protein_coding	OTTHUMT00000406267.1	106	0.00	0	G	NM_006301		53895905	53895905	+1	no_errors	ENST00000266987	ensembl	human	known	69_37n	nonsense	75	13.79	12	SNP	1.000	T
TBC1D15	64786	genome.wustl.edu	37	12	72274279	72274279	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:72274279G>T	ENST00000550746.1	+	4	299	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S	TBC1D15_ENST00000319106.8_Missense_Mutation_p.A87S|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.A79S	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	79					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGGACTCAGGCCCCAAAAGA	0.328																																						dbGAP											0													40.0	36.0	37.0					12																	72274279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.235G>T	12.37:g.72274279G>T	ENSP00000448182:p.Ala79Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A79S	ENST00000550746.1	37	c.235	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102661	0.20632	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.05717	3.4;3.4;3.4	5.92	1.63	0.23807	Domain of unknown function DUF3548 (1);	0.623927	0.17639	N	0.167101	T	0.02304	0.0071	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.23735	0.007;0.002;0.09	B;B;B	0.28385	0.014;0.008;0.089	T	0.49960	-0.8883	10	0.34782	T	0.22	-1.0074	3.9122	0.09209	0.2472:0.0:0.4711:0.2817	.	87;79;79	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	S	79;87;79	ENSP00000448182:A79S;ENSP00000318262:A87S;ENSP00000420678:A79S	ENSP00000318262:A87S	A	+	1	0	TBC1D15	70560546	0.902000	0.30710	0.999000	0.59377	0.994000	0.84299	0.444000	0.21661	0.324000	0.23333	0.650000	0.86243	GCC	TBC1D15	-	pfam_DUF3548	ENSG00000121749		0.328	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	90	0.00	0	G	NM_022771		72274279	72274279	+1	no_errors	ENST00000550746	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.981	T
TBX21	30009	genome.wustl.edu	37	17	45820054	45820054	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:45820054C>T	ENST00000177694.1	+	2	781	c.570C>T	c.(568-570)gtC>gtT	p.V190V		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	190					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGACGTGGTCTTGGTGGACC	0.632																																						dbGAP											0													47.0	39.0	42.0					17																	45820054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.570C>T	17.37:g.45820054C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		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.V190	ENST00000177694.1	37	c.570	CCDS11514.1	17																																																																																			TBX21	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000073861		0.632	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	HGNC	protein_coding	OTTHUMT00000441365.1	126	0.00	0	C	NM_013351		45820054	45820054	+1	no_errors	ENST00000177694	ensembl	human	known	69_37n	silent	72	10.00	8	SNP	1.000	T
TCF3	6929	genome.wustl.edu	37	19	1615708	1615708	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:1615708C>G	ENST00000262965.5	-	17	1907	c.1563G>C	c.(1561-1563)ctG>ctC	p.L521L	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.L470L|TCF3_ENST00000588136.1_Silent_p.L521L|TCF3_ENST00000344749.5_Silent_p.L521L|TCF3_ENST00000453954.2_Silent_p.L437L	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGGGGCCTTCAGCTCCTTCT	0.682			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	dbGAP		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													60.0	63.0	62.0					19																	1615708		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1563G>C	19.37:g.1615708C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R97|Q6PD70|Q9NP00	Nonstop_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.*71S	ENST00000262965.5	37	c.212	CCDS12074.1	19																																																																																			TCF3	-	NULL	ENSG00000071564		0.682	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449367.1	86	0.00	0	C	NM_003200		1615708	1615708	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000593064	ensembl	human	known	69_37n	nonstop	26	21.21	7	SNP	0.814	G
TEP1	7011	genome.wustl.edu	37	14	20848488	20848488	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:20848488G>C	ENST00000262715.5	-	34	4949	c.4909C>G	c.(4909-4911)Ctt>Gtt	p.L1637V	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.L1529V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1637					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGTGGCAAAGAGGTGAGTCC	0.577																																						dbGAP											0													128.0	127.0	127.0					14																	20848488		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4909C>G	14.37:g.20848488G>C	ENSP00000262715:p.Leu1637Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1637V	ENST00000262715.5	37	c.4909	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.319077	0.01320	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.46063	0.94;0.88	5.95	-0.17	0.13335	.	0.539267	0.20108	N	0.099083	T	0.23014	0.0556	N	0.22421	0.69	0.23449	N	0.997652	B;B;B	0.17268	0.021;0.021;0.012	B;B;B	0.15484	0.013;0.013;0.006	T	0.27905	-1.0060	10	0.06099	T	0.92	-3.6564	12.5593	0.56271	0.0:0.4113:0.4733:0.1154	.	1529;980;1637	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	V	1637;1637;1529	ENSP00000262715:L1637V;ENSP00000452574:L1529V	ENSP00000262715:L1637V	L	-	1	0	TEP1	19918328	0.065000	0.20965	0.279000	0.24732	0.215000	0.24574	-0.083000	0.11286	0.062000	0.16340	0.650000	0.86243	CTT	TEP1	-	NULL	ENSG00000129566		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	407	0.00	0	G	NM_007110		20848488	20848488	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	228	11.97	31	SNP	0.091	C
TET1	80312	genome.wustl.edu	37	10	70332972	70332972	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:70332972G>A	ENST00000373644.4	+	2	1086	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	293					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						CATTAAAAGTGAACATGATTG	0.433																																						dbGAP											0													85.0	89.0	87.0					10																	70332972		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.877G>A	10.37:g.70332972G>A	ENSP00000362748:p.Glu293Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.E293K	ENST00000373644.4	37	c.877	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092663	0.36952	.	.	ENSG00000138336	ENST00000373644	T	0.09163	3.01	5.53	4.44	0.53790	.	0.442673	0.20309	N	0.094870	T	0.07683	0.0193	N	0.24115	0.695	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.27502	-1.0072	10	0.44086	T	0.13	.	12.5273	0.56093	0.0918:0.0:0.9082:0.0	.	293	Q8NFU7	TET1_HUMAN	K	293	ENSP00000362748:E293K	ENSP00000362748:E293K	E	+	1	0	TET1	70002978	0.960000	0.32886	0.764000	0.31436	0.166000	0.22503	3.510000	0.53393	2.589000	0.87451	0.563000	0.77884	GAA	TET1	-	NULL	ENSG00000138336		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	66	0.00	0	G	NM_030625		70332972	70332972	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	24	11.11	3	SNP	0.041	A
TET3	200424	genome.wustl.edu	37	2	74275429	74275429	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:74275429C>G	ENST00000409262.3	+	1	1980	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	660					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCCACCCTCAGTGGCTTCT	0.607																																						dbGAP											0													45.0	59.0	54.0					2																	74275429		2029	4187	6216	-	-	-	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1980C>G	2.37:g.74275429C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.L660	ENST00000409262.3	37	c.1980	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	102	0.00	0	C			74275429	74275429	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	silent	56	15.15	10	SNP	1.000	G
TEX15	56154	genome.wustl.edu	37	8	30705231	30705231	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:30705231C>T	ENST00000256246.2	-	1	1377	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATGTTCTCTAATGACACT	0.343																																						dbGAP											0													147.0	147.0	147.0					8																	30705231		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1303G>A	8.37:g.30705231C>T	ENSP00000256246:p.Glu435Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E435K	ENST00000256246.2	37	c.1303	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087957	0.36855	.	.	ENSG00000133863	ENST00000256246	T	0.09911	2.93	5.61	1.69	0.24217	.	0.664633	0.13939	N	0.352379	T	0.08714	0.0216	L	0.29908	0.895	0.09310	N	1	P	0.35575	0.51	B	0.39258	0.295	T	0.27673	-1.0067	10	0.87932	D	0	.	5.0779	0.14642	0.1479:0.3706:0.4036:0.0779	.	435	Q9BXT5	TEX15_HUMAN	K	435	ENSP00000256246:E435K	ENSP00000256246:E435K	E	-	1	0	TEX15	30824773	0.008000	0.16893	0.014000	0.15608	0.005000	0.04900	0.967000	0.29344	0.378000	0.24764	-0.796000	0.03273	GAG	TEX15	-	NULL	ENSG00000133863		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	353	0.00	0	C			30705231	30705231	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	186	13.49	29	SNP	0.000	T
THEMIS	387357	genome.wustl.edu	37	6	128150651	128150651	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:128150651G>C	ENST00000368248.2	-	3	827	c.679C>G	c.(679-681)Cct>Gct	p.P227A	THEMIS_ENST00000543064.1_Missense_Mutation_p.P227A|THEMIS_ENST00000537166.1_Missense_Mutation_p.P192A|THEMIS_ENST00000368250.1_Missense_Mutation_p.P148A	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	227	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCATAAACAGGCTTGAGAATC	0.358																																						dbGAP											0													106.0	104.0	105.0					6																	128150651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.679C>G	6.37:g.128150651G>C	ENSP00000357231:p.Pro227Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.P227A	ENST00000368248.2	37	c.679	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458855	0.84317	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.80422	2.495	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.10132	-1.0643	10	0.72032	D	0.01	-15.2762	20.8597	0.99761	0.0:0.0:1.0:0.0	.	227;227	F5H1J9;Q8N1K5	.;THMS1_HUMAN	A	148;227;227;192	ENSP00000357233:P148A;ENSP00000439594:P227A;ENSP00000357231:P227A;ENSP00000439863:P192A	ENSP00000357231:P227A	P	-	1	0	THEMIS	128192344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.937000	0.99478	0.650000	0.86243	CCT	THEMIS	-	NULL	ENSG00000172673		0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		283	0.00	0	G	NM_001010923		128150651	128150651	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	missense	148	10.78	18	SNP	1.000	C
TIPARP	25976	genome.wustl.edu	37	3	156396104	156396104	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:156396104G>A	ENST00000461166.1	+	2	1206	c.618G>A	c.(616-618)ctG>ctA	p.L206L	TIPARP_ENST00000542783.1_Silent_p.L206L|TIPARP_ENST00000295924.7_Silent_p.L206L|TIPARP_ENST00000486483.1_Silent_p.L206L	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	206					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTGATAAGCTGAGTACTGAGC	0.438																																					Ovarian(171;276 1987 3319 6837 11197)	dbGAP											0													88.0	89.0	89.0					3																	156396104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.618G>A	3.37:g.156396104G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L206	ENST00000461166.1	37	c.618	CCDS3177.1	3																																																																																			TIPARP	-	NULL	ENSG00000163659		0.438	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	HGNC	protein_coding	OTTHUMT00000351618.1	173	0.00	0	G	NM_015508		156396104	156396104	+1	no_errors	ENST00000295924	ensembl	human	known	69_37n	silent	111	10.40	13	SNP	0.990	A
THPO	7066	genome.wustl.edu	37	3	184091276	184091276	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:184091276G>A	ENST00000204615.7	-	5	537	c.323C>T	c.(322-324)tCa>tTa	p.S108L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.S108L|THPO_ENST00000421442.2_Missense_Mutation_p.S108L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	108					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAGGGATGAGAGGCAAGT	0.607																																						dbGAP											0													89.0	75.0	79.0					3																	184091276		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.323C>T	3.37:g.184091276G>A	ENSP00000204615:p.Ser108Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.S108L	ENST00000204615.7	37	c.323	CCDS3265.1	3	.	.	.	.	.	.	.	.	.	.	g	21.4	4.139633	0.77775	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.46819	0.88;0.88;0.86	4.92	4.92	0.64577	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.39759	N	0.001271	T	0.55016	0.1894	L	0.27053	0.805	0.43608	D	0.995978	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.998;0.999	D;D;D;D;P;D	0.91635	0.995;0.999;0.999;0.954;0.88;0.927	T	0.56908	-0.7901	10	0.51188	T	0.08	-17.0273	13.6526	0.62320	0.0:0.0:1.0:0.0	.	108;108;108;108;108;108	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	L	108	ENSP00000204615:S108L;ENSP00000410763:S108L;ENSP00000411704:S108L	ENSP00000204615:S108L	S	-	2	0	THPO	185573970	1.000000	0.71417	0.951000	0.38953	0.980000	0.70556	3.966000	0.56795	2.266000	0.75297	0.454000	0.30748	TCA	THPO	-	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	ENSG00000090534		0.607	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	108	0.00	0	G	NM_000460		184091276	184091276	-1	no_errors	ENST00000204615	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.975	A
TLK1	9874	genome.wustl.edu	37	2	171867908	171867908	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:171867908C>G	ENST00000431350.2	-	14	1795	c.1391G>C	c.(1390-1392)aGa>aCa	p.R464T	TLK1_ENST00000442919.2_Missense_Mutation_p.R416T|TLK1_ENST00000434911.2_Missense_Mutation_p.R368T|TLK1_ENST00000360843.3_Missense_Mutation_p.R485T|TLK1_ENST00000521943.1_Missense_Mutation_p.R416T			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAAGCCACCTCTACCAAGCAG	0.328																																						dbGAP											0													113.0	104.0	107.0					2																	171867908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1391G>C	2.37:g.171867908C>G	ENSP00000411099:p.Arg464Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	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.R464T	ENST00000431350.2	37	c.1391	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025879	0.93518	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	L	0.42744	1.35	0.80722	D	1	P;D;D	0.71674	0.755;0.991;0.998	P;P;D	0.70487	0.809;0.856;0.969	T	0.76724	-0.2854	10	0.87932	D	0	.	17.6759	0.88230	0.0:1.0:0.0:0.0	.	368;485;464	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	T	416;464;485;416;368	ENSP00000402165:R416T;ENSP00000411099:R464T;ENSP00000354089:R485T;ENSP00000428113:R416T;ENSP00000409222:R368T	ENSP00000354089:R485T	R	-	2	0	TLK1	171576154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.714000	0.84703	2.252000	0.74401	0.655000	0.94253	AGA	TLK1	-	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	ENSG00000198586		0.328	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	287	0.00	0	C	NM_012290		171867908	171867908	-1	no_errors	ENST00000431350	ensembl	human	known	69_37n	missense	116	10.77	14	SNP	1.000	G
TLR3	7098	genome.wustl.edu	37	4	186998036	186998036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:186998036C>G	ENST00000296795.3	+	2	367	c.263C>G	c.(262-264)tCa>tGa	p.S88*		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	88					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AACACCATCTCAAAACTGGAG	0.418																																						dbGAP											0													121.0	120.0	120.0					4																	186998036		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.263C>G	4.37:g.186998036C>G	ENSP00000296795:p.Ser88*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S88*	ENST00000296795.3	37	c.263	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.833207	0.97003	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	.	.	.	5.47	5.47	0.80525	.	0.247185	0.41396	D	0.000888	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.5311	0.67926	0.1465:0.8535:0.0:0.0	.	.	.	.	X	88	.	ENSP00000296795:S88X	S	+	2	0	TLR3	187235030	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.552000	0.45828	2.728000	0.93425	0.591000	0.81541	TCA	TLR3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000164342		0.418	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	238	0.00	0	C			186998036	186998036	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	nonsense	122	14.08	20	SNP	1.000	G
TLR8-AS1	349408	genome.wustl.edu	37	X	12921373	12921373	+	RNA	SNP	G	G	A	rs41297295		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:12921373G>A	ENST00000451564.1	-	0	911					NR_030727.1				TLR8 antisense RNA 1																		GGTGGGTAGCGCCTTAAGTAG	0.507													G|||	73	0.0193377	0.0234	0.013	3775	,	,		15430	0.0		0.0308	False		,,,				2504	0.002					dbGAP											0																																										-	-	-			0					Xp22.2	2012-10-12	2012-08-15		ENSG00000233338	ENSG00000233338		"""Long non-coding RNAs"""	40720	non-coding RNA	RNA, long non-coding			"""TLR8 antisense RNA 1 (non-protein coding)"""				Standard	NR_030727		Approved		uc022btb.1		OTTHUMG00000021142		X.37:g.12921373G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451564.1	37	NULL		X																																																																																			TLR8-AS1	-	-	ENSG00000233338		0.507	TLR8-AS1-001	KNOWN	basic	antisense	TLR8-AS1	HGNC	antisense	OTTHUMT00000055776.1	13	0.00	0	G			12921373	12921373	-1	no_errors	ENST00000451564	ensembl	human	known	69_37n	rna	5	50.00	5	SNP	0.000	A
TM4SF19	116211	genome.wustl.edu	37	3	196050627	196050627	+	3'UTR	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:196050627G>C	ENST00000273695.3	-	0	816				TM4SF19_ENST00000454715.1_3'UTR|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR|TM4SF19_ENST00000446879.1_Missense_Mutation_p.F229L	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACTCCTTGTAGAAAGGATTCA	0.458																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.*61C>G	3.37:g.196050627G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV20|E9PH22|Q336K7	Splice_Site	SNP	-	NULL	ENST00000273695.3	37	c.NULL	CCDS3316.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.371|8.371	0.835313|0.835313	0.16820|0.16820	.|.	.|.	ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822	T|.	0.28895|.	1.59|.	4.1|4.1	2.29|2.29	0.28610|0.28610	.|.	.|.	.|.	.|.	.|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	P|.	0.38535|.	0.635|.	B|.	0.27887|.	0.084|.	T|T	0.22103|0.22103	-1.0226|-1.0226	9|5	0.11485|.	T|.	0.65|.	-5.9608|-5.9608	5.7977|5.7977	0.18396|0.18396	0.2393:0.0:0.7607:0.0|0.2393:0.0:0.7607:0.0	.|.	229|.	C9JCD5|.	.|.	L|C	229|97	ENSP00000395280:F229L|.	ENSP00000395280:F229L|.	F|S	-|-	3|2	2|0	TM4SF19|TM4SF19	197535024|197535024	0.002000|0.002000	0.14202|0.14202	0.033000|0.033000	0.17914|0.17914	0.005000|0.005000	0.04900|0.04900	0.963000|0.963000	0.29293|0.29293	1.080000|1.080000	0.41073|0.41073	-0.253000|-0.253000	0.11424|0.11424	TTC|TCT	TM4SF19-AS1	-	-	ENSG00000235897		0.458	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF19-AS1	HGNC	protein_coding	OTTHUMT00000341174.1	44	0.00	0	G	NM_138461		196050627	196050627	+1	no_errors	ENST00000444939	ensembl	human	known	69_37n	splice_site	32	11.11	4	SNP	0.002	C
CHMP4A	29082	genome.wustl.edu	37	14	24680890	24680890	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:24680890C>G	ENST00000609024.1	-	2	225	c.177G>C	c.(175-177)aaG>aaC	p.K59N	CHMP4A_ENST00000347519.6_Missense_Mutation_p.K102N|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K59N|TM9SF1_ENST00000556387.1_Missense_Mutation_p.K59N|CHMP4A_ENST00000530996.1_5'UTR|MDP1_ENST00000532557.1_5'Flank|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	59	Interaction with phosphoinosides.|Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CATTACCTCTCTTATTCTTGG	0.483																																						dbGAP											0													251.0	241.0	244.0					14																	24680890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.177G>C	14.37:g.24680890C>G	ENSP00000476412:p.Lys59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	pfam_EMP70,pfam_Snf7	p.K59N	ENST00000609024.1	37	c.177		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.73|17.73	3.461484|3.461484	0.63513|0.63513	.|.	.|.	ENSG00000254505|ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000548308|ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	.|T;T;T;T	.|0.77750	.|-1.12;-1.12;-1.12;-1.12	5.16|5.16	3.34|3.34	0.38264|0.38264	.|.	.|0.000000	.|0.41097	.|D	.|0.000941	D|D	0.88310|0.88310	0.6402|0.6402	M|M	0.91090|0.91090	3.175|3.175	0.33323|0.33323	D|D	0.567558|0.567558	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.995	D|D	0.89613|0.89613	0.3843|0.3843	5|10	.|0.87932	.|D	.|0	-17.2209|-17.2209	7.2747|7.2747	0.26277|0.26277	0.0:0.7267:0.0:0.2733|0.0:0.7267:0.0:0.2733	.|.	.|59;102	.|Q9BY43;Q14D22	.|CHM4A_HUMAN;.	Q|N	79|59;59;102;69	.|ENSP00000451949:K59N;ENSP00000433967:K59N;ENSP00000324205:K102N;ENSP00000432575:K69N	.|ENSP00000324205:K102N	E|K	-|-	1|3	0|2	AL096870.1|TM9SF1;AL096870.1;RP11-468E2.1	23750730|23750730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.474000|1.474000	0.35398|0.35398	0.578000|0.578000	0.29487|0.29487	0.655000|0.655000	0.94253|0.94253	GAG|AAG	TM9SF1	-	pfam_Snf7	ENSG00000100926		0.483	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000471846.1	564	0.00	0	C	NM_014169		24680890	24680890	-1	no_errors	ENST00000556387	ensembl	human	known	69_37n	missense	324	11.44	42	SNP	1.000	G
TMEM131	23505	genome.wustl.edu	37	2	98428930	98428930	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:98428930G>A	ENST00000186436.5	-	17	2045	c.1817C>T	c.(1816-1818)tCa>tTa	p.S606L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	606						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGGCAGGCTTGAAATTATTGT	0.343																																						dbGAP											0													103.0	96.0	98.0					2																	98428930		1823	4079	5902	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1817C>T	2.37:g.98428930G>A	ENSP00000186436:p.Ser606Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S606L	ENST00000186436.5	37	c.1817	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076867	0.55753	.	.	ENSG00000075568	ENST00000186436	T	0.33654	1.4	5.14	5.14	0.70334	.	0.595338	0.18815	N	0.130412	T	0.27731	0.0682	N	0.24115	0.695	0.80722	D	1	B	0.27853	0.191	B	0.26770	0.073	T	0.04373	-1.0956	10	0.26408	T	0.33	-4.4867	17.3239	0.87242	0.0:0.0:1.0:0.0	.	606	Q92545	TM131_HUMAN	L	606	ENSP00000186436:S606L	ENSP00000186436:S606L	S	-	2	0	TMEM131	97795362	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.379000	0.66196	2.832000	0.97577	0.655000	0.94253	TCA	TMEM131	-	NULL	ENSG00000075568		0.343	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	284	0.00	0	G	XM_371542		98428930	98428930	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	0.947	A
TMEM132B	114795	genome.wustl.edu	37	12	126137037	126137037	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:126137037C>G	ENST00000299308.3	+	8	1958	c.1950C>G	c.(1948-1950)gtC>gtG	p.V650V	TMEM132B_ENST00000535886.1_Silent_p.V162V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	650						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGTGATTGTCCTGGATGACC	0.577																																						dbGAP											0													36.0	39.0	38.0					12																	126137037		2084	4229	6313	-	-	-	SO:0001819	synonymous_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1950C>G	12.37:g.126137037C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.V650	ENST00000299308.3	37	c.1950	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.577	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	91	0.00	0	C	NM_052907		126137037	126137037	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	silent	55	11.29	7	SNP	1.000	G
TMEM181	57583	genome.wustl.edu	37	6	159010742	159010742	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:159010742G>C	ENST00000367090.3	+	6	842	c.831G>C	c.(829-831)ctG>ctC	p.L277L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	277					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TTGGCTACCTGAACTACACTC	0.448																																						dbGAP											0													164.0	156.0	158.0					6																	159010742		1941	4145	6086	-	-	-	SO:0001819	synonymous_variant	0			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.831G>C	6.37:g.159010742G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTU1	Silent	SNP	NULL	p.L277	ENST00000367090.3	37	c.831	CCDS43520.1	6																																																																																			TMEM181	-	NULL	ENSG00000146433		0.448	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM181	HGNC	protein_coding	OTTHUMT00000042873.1	307	0.00	0	G	NM_020823		159010742	159010742	+1	no_errors	ENST00000367090	ensembl	human	known	69_37n	silent	209	12.92	31	SNP	1.000	C
TMEM247	388946	genome.wustl.edu	37	2	46707884	46707885	+	Missense_Mutation	DNP	AA	AA	GG	rs201742486		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:46707884_46707885AA>GG	ENST00000434431.1	+	2	458_459	c.458_459AA>GG	c.(457-459)cAA>cGG	p.Q153R		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	153						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CAGCTGCAGCAAGAGGCGGCGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707884_46707885delinsGG	ENSP00000388684:p.Gln153Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation|Silent	SNP	NULL	p.Q153R|p.Q153	ENST00000434431.1	37	c.458|c.459	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.678	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	28|32	0.00	0	A	NM_001145051		46707884|46707885	46707884|46707885	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	missense|silent	18|19	21.74|20.83	5	SNP	0.238|0.091	G
TMEM55A	55529	genome.wustl.edu	37	8	92008895	92008895	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:92008895C>G	ENST00000285419.3	-	6	931	c.617G>C	c.(616-618)gGa>gCa	p.G206A		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	206						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.M200_G206delMICIFIG(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TAACCCAACTCCAATGAAAAT	0.418																																						dbGAP											1	Deletion - In frame(1)	breast(1)											92.0	81.0	85.0					8																	92008895		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.617G>C	8.37:g.92008895C>G	ENSP00000285419:p.Gly206Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.G206A	ENST00000285419.3	37	c.617	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855670	0.17106	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.83	3.92	0.45320	.	0.149453	0.64402	N	0.000010	T	0.35008	0.0917	N	0.04805	-0.155	0.80722	D	1	B	0.20887	0.049	B	0.20577	0.03	T	0.15065	-1.0450	9	0.10902	T	0.67	-27.3801	16.2617	0.82550	0.0:0.7508:0.2492:0.0	.	206	Q8N4L2	TM55A_HUMAN	A	206;212	.	ENSP00000285419:G206A	G	-	2	0	TMEM55A	92078071	0.998000	0.40836	0.994000	0.49952	0.296000	0.27459	3.770000	0.55310	1.443000	0.47586	0.563000	0.77884	GGA	TMEM55A	-	pfam_Transmembrane_protein_55A/B	ENSG00000155099		0.418	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	185	0.00	0	C	NM_018710		92008895	92008895	-1	no_errors	ENST00000285419	ensembl	human	known	69_37n	missense	97	11.01	12	SNP	0.999	G
TMEM63C	57156	genome.wustl.edu	37	14	77719719	77719719	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:77719719C>T	ENST00000298351.4	+	23	2364	c.2220C>T	c.(2218-2220)ctC>ctT	p.L740L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	740					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCACCTCCCTCGTGAGTCCTG	0.612																																						dbGAP											0													40.0	43.0	42.0					14																	77719719		2064	4197	6261	-	-	-	SO:0001630	splice_region_variant	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2220+1C>T	14.37:g.77719719C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.L740	ENST00000298351.4	37	c.2220	CCDS45141.1	14																																																																																			TMEM63C	-	NULL	ENSG00000165548		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	79	0.00	0	C		Silent	77719719	77719719	+1	no_errors	ENST00000298351	ensembl	human	known	69_37n	silent	51	15.00	9	SNP	0.995	T
TMEM86A	144110	genome.wustl.edu	37	11	18723509	18723509	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:18723509G>A	ENST00000280734.2	+	3	772	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	226						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GTCAGCTGTCGAAAGCCGGGA	0.587																																						dbGAP											0													68.0	66.0	67.0					11																	18723509		2199	4293	6492	-	-	-	SO:0001583	missense	0			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.676G>A	11.37:g.18723509G>A	ENSP00000280734:p.Glu226Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AJ0	Missense_Mutation	SNP	pfam_YhhN	p.E226K	ENST00000280734.2	37	c.676	CCDS7844.1	11	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029941	0.93575	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.22539	1.95	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.34521	1.04	0.80722	D	1	D	0.63046	0.992	B	0.42245	0.381	T	0.00939	-1.1507	9	.	.	.	-16.8087	19.6982	0.96039	0.0:0.0:1.0:0.0	.	226	Q8N2M4	TM86A_HUMAN	K	226	ENSP00000280734:E226K	.	E	+	1	0	TMEM86A	18680085	1.000000	0.71417	0.978000	0.43139	0.981000	0.71138	9.246000	0.95438	2.894000	0.99253	0.655000	0.94253	GAA	TMEM86A	-	NULL	ENSG00000151117		0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86A	HGNC	protein_coding	OTTHUMT00000387812.1	114	0.00	0	G	NM_153347		18723509	18723509	+1	no_errors	ENST00000280734	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	1.000	A
TMTC3	160418	genome.wustl.edu	37	12	88570062	88570062	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:88570062G>C	ENST00000266712.6	+	10	1618	c.1398G>C	c.(1396-1398)ttG>ttC	p.L466F		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	466					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAGAGCTTTGAAATACTTCT	0.313																																						dbGAP											0													51.0	55.0	54.0					12																	88570062		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1398G>C	12.37:g.88570062G>C	ENSP00000266712:p.Leu466Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L466F	ENST00000266712.6	37	c.1398	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416008	0.42817	.	.	ENSG00000139324	ENST00000266712	T	0.64085	-0.08	4.31	1.29	0.21616	.	0.117743	0.51477	D	0.000095	T	0.66752	0.2821	M	0.91038	3.17	0.54753	D	0.999982	B	0.30584	0.286	B	0.35470	0.203	T	0.64249	-0.6452	10	0.40728	T	0.16	-8.4989	8.213	0.31494	0.3577:0.0:0.6423:0.0	.	466	Q6ZXV5-2	.	F	466	ENSP00000266712:L466F	ENSP00000266712:L466F	L	+	3	2	TMTC3	87094193	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.751000	0.38339	0.495000	0.27882	-0.378000	0.06908	TTG	TMTC3	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139324		0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	213	0.00	0	G	NM_181783		88570062	88570062	+1	no_errors	ENST00000266712	ensembl	human	known	69_37n	missense	102	15.00	18	SNP	1.000	C
TNRC18	84629	genome.wustl.edu	37	7	5363881	5363881	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:5363881G>A	ENST00000430969.1	-	21	6754	c.6406C>T	c.(6406-6408)Ccg>Tcg	p.P2136S	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2136S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2136							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGCCACGCGGCAGGTGCTCG	0.682																																						dbGAP											0													24.0	28.0	27.0					7																	5363881		1568	3582	5150	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6406C>T	7.37:g.5363881G>A	ENSP00000395538:p.Pro2136Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P2136S	ENST00000430969.1	37	c.6406	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	12.93	2.085952	0.36758	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.12361	2.7;2.69	3.97	3.97	0.46021	.	.	.	.	.	T	0.09069	0.0224	N	0.10874	0.06	0.30008	N	0.815407	P	0.43094	0.799	B	0.40825	0.341	T	0.10200	-1.0640	9	0.20046	T	0.44	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	2136	O15417	TNC18_HUMAN	S	2136	ENSP00000382452:P2136S;ENSP00000395538:P2136S	ENSP00000382452:P2136S	P	-	1	0	TNRC18	5330407	1.000000	0.71417	0.494000	0.27515	0.026000	0.11368	6.969000	0.76092	1.927000	0.55829	0.313000	0.20887	CCG	TNRC18	-	NULL	ENSG00000182095		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		93	0.00	0	G			5363881	5363881	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	0.990	A
TNRC6A	27327	genome.wustl.edu	37	16	24820700	24820700	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:24820700G>A	ENST00000395799.3	+	18	4699	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N	TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1475N|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.D2N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1524					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTAAATATGGATATGAACAG	0.348																																						dbGAP											0													71.0	74.0	73.0					16																	24820700		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4570G>A	16.37:g.24820700G>A	ENSP00000379144:p.Asp1524Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	NULL	p.W32*	ENST00000395799.3	37	c.96	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.101497|5.101497	0.94245|0.94245	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.12984|.	2.66;2.63|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.181464|.	0.48286|.	D|.	0.000189|.	T|T	0.74928|0.74928	0.3781|0.3781	M|M	0.65975|0.65975	2.015|2.015	0.54753|0.54753	D|D	0.999984|0.999984	B;D;D;P|.	0.65815|.	0.039;0.981;0.995;0.931|.	B;P;D;B|.	0.63877|.	0.095;0.881;0.919;0.398|.	T|T	0.73228|0.73228	-0.4049|-0.4049	10|5	0.48119|.	T|.	0.1|.	-13.5284|-13.5284	19.164|19.164	0.93546|0.93546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	191;663;1475;1524|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	N|E	1475;1524;2|414	ENSP00000326900:D1475N;ENSP00000379144:D1524N|.	ENSP00000326900:D1475N|.	D|G	+|+	1|2	0|0	TNRC6A|TNRC6A	24728201|24728201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.414000|9.414000	0.97362|0.97362	2.528000|2.528000	0.85240|0.85240	0.591000|0.591000	0.81541|0.81541	GAT|GGA	TNRC6A	-	NULL	ENSG00000090905		0.348	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	93	0.00	0	G	NM_020847		24820700	24820700	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000569376	ensembl	human	known	69_37n	nonsense	55	12.70	8	SNP	1.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43748887	43748887	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:43748887G>A	ENST00000263801.3	-	12	2156	c.1904C>T	c.(1903-1905)tCt>tTt	p.S635F	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S640F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S640F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S640F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	635					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAGTGCCTCAGATCGAGTAGC	0.483								Other conserved DNA damage response genes																														dbGAP											0													130.0	125.0	127.0					15																	43748887		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1904C>T	15.37:g.43748887G>A	ENSP00000263801:p.Ser635Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S640F	ENST00000263801.3	37	c.1919	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398290	0.42512	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.04	5.04	0.67666	.	0.079394	0.49305	D	0.000141	T	0.51500	0.1678	L	0.29908	0.895	0.37500	D	0.916749	P;P;P;P	0.51351	0.944;0.877;0.925;0.925	P;B;P;P	0.50490	0.642;0.365;0.568;0.568	T	0.61043	-0.7142	10	0.72032	D	0.01	-6.512	15.013	0.71562	0.0:0.1427:0.8573:0.0	.	640;635;640;640	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	F	635;640;640;640;640	ENSP00000263801:S635F;ENSP00000371475:S640F;ENSP00000371470:S640F;ENSP00000393497:S640F;ENSP00000388028:S640F	ENSP00000263801:S635F	S	-	2	0	TP53BP1	41536179	0.992000	0.36948	0.998000	0.56505	0.461000	0.32589	2.804000	0.47931	2.486000	0.83907	0.563000	0.77884	TCT	TP53BP1	-	NULL	ENSG00000067369		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	149	0.00	0	G			43748887	43748887	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	0.952	A
TP53I3	9540	genome.wustl.edu	37	2	24305887	24305887	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:24305887C>T	ENST00000238721.4	-	2	1128	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	TP53I3_ENST00000313482.4_Missense_Mutation_p.G92S|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Missense_Mutation_p.G92S|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.G92S	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	92					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCCCCACCGGGGAGCAGA	0.632																																						dbGAP											0													57.0	58.0	58.0					2																	24305887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.274G>A	2.37:g.24305887C>T	ENSP00000238721:p.Gly92Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.G92S	ENST00000238721.4	37	c.274	CCDS1708.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974913	0.74360	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.21031	2.03;2.03;2.21;2.21;2.27	4.98	2.18	0.27775	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	M	0.68952	2.095	0.43292	D	0.995272	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.08973	-1.0696	10	0.59425	D	0.04	-4.1585	9.6937	0.40145	0.0:0.7698:0.0:0.2302	.	92;92	Q53FA7;Q53FA7-2	QORX_HUMAN;.	S	92;92;92;92;87	ENSP00000337834:G92S;ENSP00000238721:G92S;ENSP00000322298:G92S;ENSP00000384414:G92S;ENSP00000389620:G87S	ENSP00000238721:G92S	G	-	1	0	TP53I3	24159391	0.980000	0.34600	0.114000	0.21550	0.817000	0.46193	2.740000	0.47418	0.232000	0.21100	0.655000	0.94253	GGT	TP53I3	-	superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	ENSG00000115129		0.632	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	44	0.00	0	C	NM_004881		24305887	24305887	-1	no_errors	ENST00000238721	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.902	T
TPR	7175	genome.wustl.edu	37	1	186286710	186286710	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:186286710C>G	ENST00000367478.4	-	49	7140	c.6844G>C	c.(6844-6846)Gaa>Caa	p.E2282Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2282					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTATCAATTTCTAGGCCTGCT	0.403			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													68.0	66.0	66.0					1																	186286710		1854	4098	5952	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6844G>C	1.37:g.186286710C>G	ENSP00000356448:p.Glu2282Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E2282Q	ENST00000367478.4	37	c.6844	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.103284	0.94245	.	.	ENSG00000047410	ENST00000367478	T	0.27720	1.65	5.75	5.75	0.90469	.	0.164767	0.52532	D	0.000074	T	0.41119	0.1145	M	0.67953	2.075	0.54753	D	0.999985	P	0.45044	0.849	B	0.42798	0.398	T	0.39375	-0.9617	10	0.72032	D	0.01	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	2282	P12270	TPR_HUMAN	Q	2282	ENSP00000356448:E2282Q	ENSP00000356448:E2282Q	E	-	1	0	TPR	184553333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.349000	0.73013	2.716000	0.92895	0.655000	0.94253	GAA	TPR	-	NULL	ENSG00000047410		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	150	0.00	0	C	NM_003292		186286710	186286710	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	68	12.66	10	SNP	1.000	G
TPR	7175	genome.wustl.edu	37	1	186307222	186307222	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:186307222C>G	ENST00000367478.4	-	31	4601	c.4305G>C	c.(4303-4305)aaG>aaC	p.K1435N		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1435					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCCAATTTTCTTAACTTGAG	0.299			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													147.0	130.0	135.0					1																	186307222		1818	4073	5891	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4305G>C	1.37:g.186307222C>G	ENSP00000356448:p.Lys1435Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K1435N	ENST00000367478.4	37	c.4305	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209455	0.58343	.	.	ENSG00000047410	ENST00000367478	T	0.58940	0.3	5.48	5.48	0.80851	Seryl-tRNA synthetase, class IIa, N-terminal (1);	0.045004	0.85682	D	0.000000	T	0.72220	0.3433	M	0.75447	2.3	0.54753	D	0.999986	D	0.76494	0.999	D	0.64144	0.922	T	0.73297	-0.4027	10	0.48119	T	0.1	.	12.6829	0.56932	0.0:0.9252:0.0:0.0748	.	1435	P12270	TPR_HUMAN	N	1435	ENSP00000356448:K1435N	ENSP00000356448:K1435N	K	-	3	2	TPR	184573845	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	3.786000	0.55431	2.572000	0.86782	0.655000	0.94253	AAG	TPR	-	superfamily_tRNA-bd_arm	ENSG00000047410		0.299	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	509	0.00	0	C	NM_003292		186307222	186307222	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	245	12.77	36	SNP	1.000	G
TPX2	22974	genome.wustl.edu	37	20	30363692	30363692	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:30363692G>A	ENST00000300403.6	+	8	1159	c.631G>A	c.(631-633)Gag>Aag	p.E211K	TPX2_ENST00000340513.4_Missense_Mutation_p.E211K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418																																						dbGAP											1	Substitution - Nonsense(1)	prostate(1)											79.0	84.0	82.0					20																	30363692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.631G>A	20.37:g.30363692G>A	ENSP00000300403:p.Glu211Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.E211K	ENST00000300403.6	37	c.631	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.284370	0.95517	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.75367	-0.93	5.02	5.02	0.67125	.	0.061102	0.64402	D	0.000005	T	0.80523	0.4639	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.81006	-0.1128	10	0.52906	T	0.07	-16.2082	17.8732	0.88817	0.0:0.0:1.0:0.0	.	211;211	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	211	ENSP00000341145:E211K	ENSP00000300403:E211K	E	+	1	0	TPX2	29827353	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.775000	0.85489	2.773000	0.95371	0.655000	0.94253	GAG	TPX2	-	NULL	ENSG00000088325		0.418	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	305	0.00	0	G			30363692	30363692	+1	no_errors	ENST00000340513	ensembl	human	known	69_37n	missense	132	12.00	18	SNP	1.000	A
TRAPPC11	60684	genome.wustl.edu	37	4	184587551	184587551	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:184587551G>A	ENST00000334690.6	+	3	548	c.346G>A	c.(346-348)Gag>Aag	p.E116K	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E116K	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	116					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAAGCAGTCTGAGTGCGCCAC	0.483																																						dbGAP											0													116.0	112.0	113.0					4																	184587551		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.346G>A	4.37:g.184587551G>A	ENSP00000335371:p.Glu116Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.E116K	ENST00000334690.6	37	c.346	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.951190	0.97139	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.65684	0.867;0.937	T	0.78104	-0.2334	9	0.39692	T	0.17	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	116;116	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	K	116	.	ENSP00000335371:E116K	E	+	1	0	C4orf41	184824545	1.000000	0.71417	0.288000	0.24862	0.994000	0.84299	9.676000	0.98643	2.609000	0.88269	0.563000	0.77884	GAG	TRAPPC11	-	NULL	ENSG00000168538		0.483	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	131	0.76	1	G	NM_021942		184587551	184587551	+1	no_errors	ENST00000334690	ensembl	human	known	69_37n	missense	86	12.24	12	SNP	1.000	A
TRAV26-2	28656	genome.wustl.edu	37	14	22671189	22671189	+	RNA	SNP	G	G	A	rs532330350		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr14:22671189G>A	ENST00000390460.1	+	0	254									T cell receptor alpha variable 26-2																		GCTGAAGACAGAAAGTCCAGT	0.522																																						dbGAP											0													83.0	90.0	88.0					14																	22671189		2108	4252	6360	-	-	-			0			AE000660		14q11.2	2012-02-07			ENSG00000211812	ENSG00000211812		"""T cell receptors / TRA locus"""	12124	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV262, TCRAV4S1, TCRAV26S2			OTTHUMG00000170663		14.37:g.22671189G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R85K	ENST00000390460.1	37	c.254		14																																																																																			TRAV26-2	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211812		0.522	TRAV26-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV26-2	HGNC	TR_V_gene	OTTHUMT00000409911.1	162	0.00	0	G	NG_001332		22671189	22671189	+1	no_stop_codon	ENST00000390460	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	1.000	A
TRH	7200	genome.wustl.edu	37	3	129694818	129694818	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:129694818C>G	ENST00000302649.3	+	2	686	c.159C>G	c.(157-159)ctC>ctG	p.L53L	TRH_ENST00000507066.1_Silent_p.L53L	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	53					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						AGCGCCTCCTCTTCCTCCGGG	0.687																																					Esophageal Squamous(60;321 1330 17401 41911)	dbGAP											0													21.0	25.0	24.0					3																	129694818		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.159C>G	3.37:g.129694818C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R1|Q2TB83	Silent	SNP	pfam_TRH,pirsf_TRH	p.L53	ENST00000302649.3	37	c.159	CCDS3066.1	3																																																																																			TRH	-	pfam_TRH,pirsf_TRH	ENSG00000170893		0.687	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRH	HGNC	protein_coding	OTTHUMT00000356592.1	39	0.00	0	C	NM_007117		129694818	129694818	+1	no_errors	ENST00000302649	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.768	G
TRIM49	57093	genome.wustl.edu	37	11	89531369	89531369	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:89531369G>T	ENST00000329758.1	-	8	1616	c.1288C>A	c.(1288-1290)Cta>Ata	p.L430I	TRIM49_ENST00000532501.2_Missense_Mutation_p.L353I	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	430	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTATATTAGGGAGCTTTGA	0.413																																						dbGAP											0													9.0	10.0	10.0					11																	89531369		1918	4084	6002	-	-	-	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1288C>A	11.37:g.89531369G>T	ENSP00000327604:p.Leu430Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L430I	ENST00000329758.1	37	c.1288	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328155	0.24080	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.65732	-0.17	1.21	0.222	0.15288	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.74359	0.3706	M	0.88450	2.955	0.09310	N	1	P	0.51537	0.946	P	0.59595	0.86	T	0.62416	-0.6859	8	.	.	.	.	3.4845	0.07614	0.2823:0.0:0.7177:0.0	.	430	P0CI25	TRI49_HUMAN	I	430;353	ENSP00000327604:L430I	.	L	-	1	2	TRIM49	89171017	0.004000	0.15560	0.001000	0.08648	0.008000	0.06430	0.894000	0.28350	0.086000	0.17137	0.430000	0.28490	CTA	TRIM49	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000168930		0.413	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	85	0.00	0	G	NM_020358		89531369	89531369	-1	no_errors	ENST00000329758	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	0.006	T
TRPS1	7227	genome.wustl.edu	37	8	116616177	116616177	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:116616177G>C	ENST00000220888.5	-	3	2139	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V	TRPS1_ENST00000395715.3_Silent_p.V673V|TRPS1_ENST00000519076.1_Silent_p.V414V|TRPS1_ENST00000519674.1_Silent_p.V660V|TRPS1_ENST00000520276.1_Silent_p.V664V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	660	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCTTTCCTTGACAGACTGCT	0.473									Langer-Giedion syndrome																													dbGAP											0													110.0	103.0	106.0					8																	116616177		1982	4156	6138	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1980C>G	8.37:g.116616177G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S461*	ENST00000220888.5	37	c.1382		8																																																																																			TRPS1	-	NULL	ENSG00000104447		0.473	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	311	0.00	0	G	NM_014112		116616177	116616177	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000517323	ensembl	human	known	69_37n	nonsense	226	19.57	55	SNP	1.000	C
TRPS1	7227	genome.wustl.edu	37	8	116631536	116631536	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:116631536C>T	ENST00000220888.5	-	2	909	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TRPS1_ENST00000395715.3_Silent_p.L263L|TRPS1_ENST00000519076.1_Silent_p.L204L|TRPS1_ENST00000519674.1_Silent_p.L250L|TRPS1_ENST00000520276.1_Silent_p.L254L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	250					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCGGTTATGCAGTCCTAAGT	0.468									Langer-Giedion syndrome																													dbGAP											0													105.0	103.0	103.0					8																	116631536		1941	4161	6102	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.750G>A	8.37:g.116631536C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C251Y	ENST00000220888.5	37	c.752		8																																																																																			TRPS1	-	NULL	ENSG00000104447		0.468	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	156	0.00	0	C	NM_014112		116631536	116631536	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000517323	ensembl	human	known	69_37n	missense	123	20.13	31	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2106207	2106207	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:2106207C>G	ENST00000219476.3	+	7	1240	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	TSC2_ENST00000568454.1_Missense_Mutation_p.L215V|TSC2_ENST00000382538.6_Missense_Mutation_p.L155V|TSC2_ENST00000401874.2_Missense_Mutation_p.L204V|TSC2_ENST00000439673.2_Missense_Mutation_p.L167V|TSC2_ENST00000350773.4_Missense_Mutation_p.L204V|TSC2_ENST00000353929.4_Missense_Mutation_p.L204V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	204	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GATGATCTGTCTGCTGTGCGT	0.632			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													103.0	84.0	90.0					16																	2106207		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.610C>G	16.37:g.2106207C>G	ENSP00000219476:p.Leu204Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,prints_Tuberin,pfscan_Rap_GAP	p.L204V	ENST00000219476.3	37	c.610	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	2.837	-0.241308	0.05906	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.05	3.88	0.44766	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.072884	0.56097	D	0.000039	T	0.76343	0.3974	L	0.42245	1.32	0.50467	D	0.99987	B;B;B;P;B;B	0.35894	0.024;0.183;0.016;0.526;0.004;0.427	B;B;B;P;B;B	0.45971	0.062;0.292;0.037;0.499;0.019;0.242	T	0.69154	-0.5220	10	0.17369	T	0.5	-11.7723	8.8352	0.35109	0.1421:0.7257:0.0:0.1321	.	155;167;204;204;204;204	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	204;155;204;204;167;155;204	ENSP00000219476:L204V;ENSP00000384468:L204V;ENSP00000248099:L204V;ENSP00000399232:L167V;ENSP00000371978:L155V;ENSP00000344383:L204V	ENSP00000219476:L204V	L	+	1	2	TSC2	2046208	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.360000	0.44151	2.360000	0.80028	0.655000	0.94253	CTG	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.632	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	81	0.00	0	C	NM_000548		2106207	2106207	+1	no_errors	ENST00000219476	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	1.000	G
TSEN34	79042	genome.wustl.edu	37	19	54695751	54695751	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:54695751G>C	ENST00000396383.1	+	3	734	c.423G>C	c.(421-423)tcG>tcC	p.S141S	MBOAT7_ENST00000391754.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000474910.1_5'Flank|TSEN34_ENST00000396388.2_Silent_p.S141S|MBOAT7_ENST00000431666.2_5'Flank|TSEN34_ENST00000302937.4_Silent_p.S141S|TSEN34_ENST00000429671.2_Silent_p.S141S|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	141					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGCCGGCTCGAGCCAGGCTG	0.612																																					Esophageal Squamous(37;841 964 4869 42824)	dbGAP											0													39.0	45.0	43.0					19																	54695751		2005	4157	6162	-	-	-	SO:0001819	synonymous_variant	0			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.423G>C	19.37:g.54695751G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic	p.S141	ENST00000396383.1	37	c.423	CCDS42609.1	19																																																																																			TSEN34	-	pirsf_tRNA_splic_SEN34	ENSG00000170892		0.612	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN34	HGNC	protein_coding	OTTHUMT00000142200.1	60	0.00	0	G	NM_024075		54695751	54695751	+1	no_errors	ENST00000429671	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.105	C
TSNAXIP1	55815	genome.wustl.edu	37	16	67854843	67854843	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:67854843G>A	ENST00000388833.3	+	3	464	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.R83R|TSNAXIP1_ENST00000415766.3_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		ATGACTACCGGAAGCGAGTAG	0.597																																						dbGAP											0													141.0	143.0	142.0					16																	67854843		1975	4137	6112	-	-	-	SO:0001819	synonymous_variant	0			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.87G>A	16.37:g.67854843G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.R29	ENST00000388833.3	37	c.87	CCDS10846.2	16																																																																																			TSNAXIP1	-	NULL	ENSG00000102904		0.597	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000268876.2	75	0.00	0	G	NM_018430		67854843	67854843	+1	no_errors	ENST00000388833	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	0.006	A
TSPAN2	10100	genome.wustl.edu	37	1	115593133	115593133	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:115593133C>T	ENST00000369516.2	-	8	675	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.R190Q|TSPAN2_ENST00000369514.2_Missense_Mutation_p.R187Q	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	215					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCGTGAGTTTCGTATCGCACA	0.398																																						dbGAP											0													169.0	160.0	163.0					1																	115593133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.644G>A	1.37:g.115593133C>T	ENSP00000358529:p.Arg215Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.R215Q	ENST00000369516.2	37	c.644	CCDS881.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873459	0.91664	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.35421	1.58;1.77;1.31;1.39	6.04	6.04	0.98038	.	1.810930	0.03185	N	0.172568	T	0.55955	0.1953	M	0.79926	2.475	0.58432	D	0.999996	D	0.71674	0.998	P	0.56916	0.809	T	0.47749	-0.9093	10	0.56958	D	0.05	.	17.5116	0.87761	0.0:1.0:0.0:0.0	.	215	O60636	TSN2_HUMAN	Q	215;190;181;187	ENSP00000358529:R215Q;ENSP00000358528:R190Q;ENSP00000415256:R181Q;ENSP00000358527:R187Q	ENSP00000358527:R187Q	R	-	2	0	TSPAN2	115394656	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.284000	0.65627	2.873000	0.98535	0.563000	0.77884	CGA	TSPAN2	-	NULL	ENSG00000134198		0.398	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	274	0.00	0	C	NM_005725		115593133	115593133	-1	no_errors	ENST00000369516	ensembl	human	known	69_37n	missense	142	12.88	21	SNP	1.000	T
TTC19	54902	genome.wustl.edu	37	17	15909837	15909837	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:15909837G>C	ENST00000261647.5	+	7	1100	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	TTC19_ENST00000486880.2_Missense_Mutation_p.E332Q|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	211					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AACTCTAGAGGAAAAAATTGA	0.348																																						dbGAP											0													103.0	113.0	110.0					17																	15909837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.631G>C	17.37:g.15909837G>C	ENSP00000261647:p.Glu211Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E332Q	ENST00000261647.5	37	c.994	CCDS11174.2	17	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715046	0.68844	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	T	0.75704	-0.96	5.86	3.69	0.42338	.	0.486738	0.24126	N	0.041302	T	0.62938	0.2469	L	0.29908	0.895	0.27406	N	0.954712	.	.	.	.	.	.	T	0.57341	-0.7828	8	0.45353	T	0.12	-1.4372	5.638	0.17548	0.263:0.0:0.737:0.0	.	.	.	.	Q	211;332;211	ENSP00000261647:E211Q	ENSP00000261647:E332Q	E	+	1	0	TTC19	15850562	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	2.121000	0.41977	1.477000	0.48234	0.655000	0.94253	GAA	TTC19	-	NULL	ENSG00000011295		0.348	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	HGNC	protein_coding	OTTHUMT00000131725.6	247	0.00	0	G	NM_017775		15909837	15909837	+1	no_errors	ENST00000261647	ensembl	human	novel	69_37n	missense	102	19.69	25	SNP	0.978	C
TTC21A	199223	genome.wustl.edu	37	3	39179860	39179860	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:39179860C>A	ENST00000431162.2	+	27	3933	c.3799C>A	c.(3799-3801)Cac>Aac	p.H1267N	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.H1268N|TTC21A_ENST00000440121.1_Missense_Mutation_p.H1219N			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1267										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTACAGTCATCACGCCAACCC	0.567																																						dbGAP											0													53.0	53.0	53.0					3																	39179860		2088	4211	6299	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3799C>A	3.37:g.39179860C>A	ENSP00000398211:p.His1267Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H1268N	ENST00000431162.2	37	c.3802	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825588	0.71143	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.75260	-0.92;-0.92;-0.92	4.83	3.89	0.44902	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.662473	0.14120	N	0.340131	T	0.68146	0.2969	L	0.50333	1.59	0.32164	N	0.582566	B;B;B	0.29301	0.118;0.241;0.156	B;B;B	0.27500	0.07;0.08;0.037	T	0.71182	-0.4668	10	0.33141	T	0.24	-3.5196	13.4383	0.61096	0.0:0.8413:0.1587:0.0	.	1219;1268;1267	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	N	1268;1250;1267;1219	ENSP00000301819:H1268N;ENSP00000398211:H1267N;ENSP00000410882:H1219N	ENSP00000301819:H1268N	H	+	1	0	TTC21A	39154864	0.032000	0.19561	0.286000	0.24833	0.771000	0.43674	1.458000	0.35223	2.207000	0.71202	0.561000	0.74099	CAC	TTC21A	-	pfscan_TPR-contain_dom	ENSG00000168026		0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	146	0.00	0	C	NM_145755		39179860	39179860	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	0.998	A
CNP	1267	genome.wustl.edu	37	17	40117254	40117254	+	5'Flank	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:40117254C>G	ENST00000393892.3	+	0	0				CNP_ENST00000393888.1_5'Flank|CNP_ENST00000591072.1_5'Flank|CNP_ENST00000472031.1_5'Flank|TTC25_ENST00000591658.1_RNA	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)		GAATTAGGCACAAGATCAGGA	0.507																																						dbGAP											0													38.0	40.0	39.0					17																	40117254		1906	4122	6028	-	-	-	SO:0001631	upstream_gene_variant	0				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.40117254C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393892.3	37	NULL	CCDS11414.2	17																																																																																			TTC25	-	-	ENSG00000204815		0.507	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC25	HGNC	protein_coding	OTTHUMT00000257443.2	133	0.00	0	C			40117254	40117254	+1	no_errors	ENST00000377540	ensembl	human	known	69_37n	rna	38	19.15	9	SNP	0.000	G
TTC3	7267	genome.wustl.edu	37	21	38538681	38538681	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr21:38538681C>T	ENST00000399017.2	+	33	6912	c.4165C>T	c.(4165-4167)Cat>Tat	p.H1389Y	TTC3_ENST00000355666.1_Missense_Mutation_p.H1389Y|TTC3_ENST00000354749.2_Missense_Mutation_p.H1389Y|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1389					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)				TGAGGGTCATCATTTGAATGC	0.453																																					Ovarian(38;194 1649 35661)	dbGAP											0													115.0	105.0	109.0					21																	38538681		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4165C>T	21.37:g.38538681C>T	ENSP00000381981:p.His1389Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1389Y	ENST00000399017.2	37	c.4165	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425517	0.62733	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08634	3.07;3.07;3.07	5.09	3.2	0.36748	.	1.611420	0.03205	N	0.175352	T	0.12050	0.0293	L	0.56769	1.78	0.09310	N	0.999999	P;P	0.47604	0.898;0.618	B;B	0.40825	0.341;0.091	T	0.26292	-1.0107	9	.	.	.	-0.1975	6.2556	0.20872	0.2119:0.6902:0.0:0.0979	.	447;1389	Q5GIT6;P53804	.;TTC3_HUMAN	Y	1389	ENSP00000347889:H1389Y;ENSP00000381981:H1389Y;ENSP00000346791:H1389Y	.	H	+	1	0	TTC3	37460551	0.000000	0.05858	0.000000	0.03702	0.936000	0.57629	0.572000	0.23684	0.582000	0.29556	0.655000	0.94253	CAT	TTC3	-	NULL	ENSG00000182670		0.453	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	226	0.00	0	C			38538681	38538681	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	141	10.19	16	SNP	0.001	T
TTC39A	22996	genome.wustl.edu	37	1	51770779	51770779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:51770779C>A	ENST00000447632.2	-	8	784	c.736G>T	c.(736-738)Gag>Tag	p.E246*	TTC39A_ENST00000262676.5_Nonsense_Mutation_p.E242*|TTC39A_ENST00000371750.5_Nonsense_Mutation_p.E211*|TTC39A_ENST00000262675.7_Nonsense_Mutation_p.E183*|TTC39A_ENST00000451380.1_Nonsense_Mutation_p.E210*|TTC39A_ENST00000413473.2_Nonsense_Mutation_p.E214*|TTC39A_ENST00000371747.3_Nonsense_Mutation_p.E245*			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	246								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CCCACAAACTCCAACAGCCTC	0.592																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											98.0	105.0	103.0					1																	51770779		1979	4148	6127	-	-	-	SO:0001587	stop_gained	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.736G>T	1.37:g.51770779C>A	ENSP00000393952:p.Glu246*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Nonsense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.E246*	ENST00000447632.2	37	c.736		1	.	.	.	.	.	.	.	.	.	.	C	37	6.215821	0.97385	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-29.2567	18.4376	0.90652	0.0:1.0:0.0:0.0	.	.	.	.	X	246;214;183;210;211;245;242;183;210;183	.	ENSP00000262675:E183X	E	-	1	0	TTC39A	51543367	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.195000	0.77798	2.675000	0.91044	0.655000	0.94253	GAG	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.592	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	126	0.00	0	C			51770779	51770779	-1	no_errors	ENST00000447632	ensembl	human	known	69_37n	nonsense	102	11.30	13	SNP	1.000	A
TTC39C	125488	genome.wustl.edu	37	18	21663021	21663021	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:21663021C>G	ENST00000317571.3	+	6	1196	c.960C>G	c.(958-960)ttC>ttG	p.F320L	TTC39C_ENST00000304621.6_Missense_Mutation_p.F259L|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	320										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTATGTTTTTCAAGGGACGGA	0.408																																						dbGAP											0													99.0	101.0	100.0					18																	21663021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.960C>G	18.37:g.21663021C>G	ENSP00000323645:p.Phe320Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.F320L	ENST00000317571.3	37	c.960	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954612	0.73902	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.75050	-0.9;-0.9	5.8	4.93	0.64822	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.79258	2.445	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	D	0.84545	0.0641	10	0.87932	D	0	-19.2532	9.2234	0.37390	0.0:0.7837:0.0:0.2163	.	320	Q8N584	TT39C_HUMAN	L	259;320	ENSP00000306598:F259L;ENSP00000323645:F320L	ENSP00000306598:F259L	F	+	3	2	TTC39C	19917019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.973000	0.29422	1.456000	0.47831	0.557000	0.71058	TTC	TTC39C	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000168234		0.408	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	222	0.00	0	C	NM_153211		21663021	21663021	+1	no_errors	ENST00000317571	ensembl	human	known	69_37n	missense	101	12.17	14	SNP	1.000	G
TTF2	8458	genome.wustl.edu	37	1	117624493	117624493	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:117624493C>T	ENST00000369466.4	+	10	1871	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	609	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATTGCGCTCATCCTGACCC	0.403																																						dbGAP											0													114.0	112.0	113.0					1																	117624493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1827C>T	1.37:g.117624493C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L609	ENST00000369466.4	37	c.1827	CCDS892.1	1																																																																																			TTF2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000116830		0.403	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	251	0.00	0	C			117624493	117624493	+1	no_errors	ENST00000369466	ensembl	human	known	69_37n	silent	125	14.97	22	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179455523	179455523	+	Missense_Mutation	SNP	C	C	T	rs569630571		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:179455523C>T	ENST00000591111.1	-	254	56230	c.56006G>A	c.(56005-56007)cGt>cAt	p.R18669H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20310H|TTN_ENST00000359218.5_Missense_Mutation_p.R11370H|TTN_ENST00000342992.6_Missense_Mutation_p.R17742H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11437H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11245H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18669	Fibronectin type-III 35. {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)			TACTTCTCGACGTTCCATATA	0.438																																						dbGAP											0													103.0	99.0	101.0					2																	179455523		1905	4110	6015	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56006G>A	2.37:g.179455523C>T	ENSP00000465570:p.Arg18669His	Somatic		WXS	Illumina GAIIx	Phase_IV	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.R17742H	ENST00000591111.1	37	c.53225		2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666529	0.47677	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74442	0.3717	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74375	-0.3686	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11245;11370;11437;18669	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17742;11245;11437;11370;11243	ENSP00000343764:R17742H;ENSP00000434586:R11245H;ENSP00000340554:R11437H;ENSP00000352154:R11370H	ENSP00000340554:R11437H	R	-	2	0	TTN	179163769	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	164	0.00	0	C	NM_133378		179455523	179455523	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	90	11.65	12	SNP	1.000	T
TTPAL	79183	genome.wustl.edu	37	20	43108995	43108995	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr20:43108995C>T	ENST00000372904.3	+	3	499	c.356C>T	c.(355-357)tCa>tTa	p.S119L	TTPAL_ENST00000372906.2_Missense_Mutation_p.S119L|TTPAL_ENST00000262605.4_Missense_Mutation_p.S119L	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	119	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTGAAGCCATCAGCCTTAAAA	0.572																																						dbGAP											0													73.0	70.0	71.0					20																	43108995		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.356C>T	20.37:g.43108995C>T	ENSP00000361995:p.Ser119Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.S119L	ENST00000372904.3	37	c.356	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813145	0.90707	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	T;T;D;D	0.94280	-1.24;-1.24;-3.39;-2.17	4.65	4.65	0.58169	Cellular retinaldehyde-binding/triple function, C-terminal (2);Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	M	0.76938	2.355	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.95031	0.8169	10	0.27082	T	0.32	-11.3472	17.9203	0.88964	0.0:1.0:0.0:0.0	.	119	Q9BTX7	TTPAL_HUMAN	L	119	ENSP00000262605:S119L;ENSP00000361995:S119L;ENSP00000361997:S119L;ENSP00000412720:S119L	ENSP00000262605:S119L	S	+	2	0	TTPAL	42542409	1.000000	0.71417	0.080000	0.20451	0.990000	0.78478	7.758000	0.85224	2.266000	0.75297	0.655000	0.94253	TCA	TTPAL	-	superfamily_CRAL/TRIO_N_dom,pfscan_CRAL-TRIO_dom	ENSG00000124120		0.572	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	44	0.00	0	C	NM_024331		43108995	43108995	+1	no_errors	ENST00000262605	ensembl	human	known	69_37n	missense	28	21.62	8	SNP	0.990	T
TUBA4A	7277	genome.wustl.edu	37	2	220115764	220115764	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:220115764G>A	ENST00000248437.4	-	4	830	c.657C>T	c.(655-657)atC>atT	p.I219I	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Silent_p.I204I|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	219					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TTGGGCGCTCGATGTCTAGGT	0.547																																						dbGAP											0													117.0	116.0	116.0					2																	220115764		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.657C>T	2.37:g.220115764G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB1|B3KNQ6|P05215	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.I219	ENST00000248437.4	37	c.657	CCDS2438.1	2																																																																																			TUBA4A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	ENSG00000127824		0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4A	HGNC	protein_coding	OTTHUMT00000256816.3	300	0.00	0	G	NM_006000		220115764	220115764	-1	no_errors	ENST00000248437	ensembl	human	known	69_37n	silent	147	26.87	54	SNP	1.000	A
TUBGCP2	10844	genome.wustl.edu	37	10	135106140	135106140	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:135106140G>A	ENST00000252936.3	-	7	1116	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	TUBGCP2_ENST00000543663.1_Silent_p.L387L|TUBGCP2_ENST00000368563.2_Silent_p.L359L|TUBGCP2_ENST00000368562.1_5'Flank|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Silent_p.L229L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	359					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCCTGTCGTGGAGCAGGCTCA	0.617																																						dbGAP											0													103.0	89.0	94.0					10																	135106140		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1077C>T	10.37:g.135106140G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.L387	ENST00000252936.3	37	c.1161	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_Spc97_Spc98	ENSG00000130640		0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	133	0.00	0	G			135106140	135106140	-1	no_errors	ENST00000543663	ensembl	human	known	69_37n	silent	67	18.29	15	SNP	0.822	A
UBAP1	51271	genome.wustl.edu	37	9	34241549	34241549	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:34241549G>A	ENST00000297661.4	+	4	761	c.526G>A	c.(526-528)Gag>Aag	p.E176K	UBAP1_ENST00000540348.1_Missense_Mutation_p.E176K|UBAP1_ENST00000536252.1_Missense_Mutation_p.E176K|UBAP1_ENST00000359544.2_Missense_Mutation_p.E176K|UBAP1_ENST00000543944.1_Missense_Mutation_p.E212K|UBAP1_ENST00000545103.1_Missense_Mutation_p.E240K|UBAP1_ENST00000379186.4_Missense_Mutation_p.E176K	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	176					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AACTATTGATGAGAAGGAAGA	0.438																																					NSCLC(109;1074 1634 14978 20375 39620)	dbGAP											0													70.0	77.0	75.0					9																	34241549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.526G>A	9.37:g.34241549G>A	ENSP00000297661:p.Glu176Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.E240K	ENST00000297661.4	37	c.718	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402806	0.83230	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.50001	0.78;0.76;0.82;0.82;0.82;0.81;0.82	6.17	5.28	0.74379	.	0.095886	0.64402	N	0.000002	T	0.43722	0.1260	L	0.44542	1.39	0.48975	D	0.999735	B;B;B;B	0.23377	0.01;0.01;0.084;0.01	B;B;B;B	0.21917	0.009;0.009;0.037;0.009	T	0.37454	-0.9705	10	0.72032	D	0.01	-26.0914	15.4434	0.75208	0.0658:0.0:0.9342:0.0	.	240;212;240;176	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	K	240;212;176;176;176;176;176	ENSP00000441024:E240K;ENSP00000439806:E212K;ENSP00000440456:E176K;ENSP00000439976:E176K;ENSP00000297661:E176K;ENSP00000368484:E176K;ENSP00000352541:E176K	ENSP00000297661:E176K	E	+	1	0	UBAP1	34231549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.633000	0.50488	0.655000	0.94253	GAG	UBAP1	-	NULL	ENSG00000165006		0.438	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	229	0.00	0	G			34241549	34241549	+1	no_errors	ENST00000545103	ensembl	human	known	69_37n	missense	140	12.50	20	SNP	1.000	A
UBR5	51366	genome.wustl.edu	37	8	103284937	103284937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:103284937G>A	ENST00000520539.1	-	48	7399	c.6793C>T	c.(6793-6795)Cga>Tga	p.R2265*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2265*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2259*|UBR5_ENST00000518205.1_5'UTR	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2265					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCACATCTTCGACCAAAGTGA	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													110.0	90.0	96.0					8																	103284937		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6793C>T	8.37:g.103284937G>A	ENSP00000429084:p.Arg2265*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R2265*	ENST00000520539.1	37	c.6793	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	51	18.426598	0.99905	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922;ENST00000521566	.	.	.	5.34	4.46	0.54185	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3039	0.73976	0.0:0.0:0.8587:0.1413	.	.	.	.	X	2265;2265;2259;90	.	ENSP00000220959:R2265X	R	-	1	2	UBR5	103354113	1.000000	0.71417	0.699000	0.30290	0.970000	0.65996	4.276000	0.58933	1.242000	0.43836	0.585000	0.79938	CGA	UBR5	-	superfamily_HECT	ENSG00000104517		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	130	0.00	0	G	NM_015902		103284937	103284937	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	nonsense	87	10.31	10	SNP	0.993	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34831948	34831948	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:34831948G>A	ENST00000192788.5	+	15	3556	c.3385G>A	c.(3385-3387)Gat>Aat	p.D1129N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D1129N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1129							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGATGGCAGTGATAGCTTTGT	0.498																																						dbGAP											0													140.0	143.0	142.0					6																	34831948		2072	4218	6290	-	-	-	SO:0001583	missense	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3385G>A	6.37:g.34831948G>A	ENSP00000192788:p.Asp1129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NXE0	Missense_Mutation	SNP	NULL	p.D1129N	ENST00000192788.5	37	c.3385	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666008	0.88251	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.15139	2.45;2.45	6.04	6.04	0.98038	.	0.100294	0.64402	D	0.000003	T	0.24198	0.0586	M	0.69823	2.125	0.54753	D	0.999983	P	0.48589	0.912	P	0.49012	0.598	T	0.00673	-1.1616	10	0.72032	D	0.01	-12.5417	18.7597	0.91845	0.0:0.0:1.0:0.0	.	1129	Q6BDS2	URFB1_HUMAN	N	1129	ENSP00000192788:D1129N;ENSP00000400628:D1129N	ENSP00000192788:D1129N	D	+	1	0	UHRF1BP1	34939926	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.069000	0.93967	2.873000	0.98535	0.561000	0.74099	GAT	UHRF1BP1	-	NULL	ENSG00000065060		0.498	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	167	0.00	0	G	NM_017754		34831948	34831948	+1	no_errors	ENST00000192788	ensembl	human	known	69_37n	missense	108	11.48	14	SNP	1.000	A
ULK3	25989	genome.wustl.edu	37	15	75133824	75133824	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:75133824G>C	ENST00000440863.2	-	4	482	c.391C>G	c.(391-393)Cgg>Ggg	p.R131G	ULK3_ENST00000568667.1_Missense_Mutation_p.R142G|ULK3_ENST00000569437.1_Missense_Mutation_p.R131G	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R131W(1)		breast(2)	2						GAGATATTCCGTTCATGCAGG	0.562																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											97.0	104.0	102.0					15																	75133824		2057	4194	6251	-	-	-	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.391C>G	15.37:g.75133824G>C	ENSP00000400312:p.Arg131Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom	p.R131G	ENST00000440863.2	37	c.391	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716650	0.30413	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.66460	-0.21	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.289659	0.33650	N	0.004685	T	0.61627	0.2362	L	0.56124	1.755	0.31620	N	0.650433	B;B;B;B;B	0.17465	0.006;0.012;0.022;0.015;0.011	B;B;B;B;B	0.22753	0.041;0.027;0.027;0.037;0.011	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.3571	12.0239	0.53358	0.0:0.1745:0.8254:0.0	.	41;142;41;131;131	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	G	131;142	ENSP00000400312:R131G	ENSP00000393658:R142G	R	-	1	2	ULK3	72920877	0.517000	0.26226	0.985000	0.45067	0.651000	0.38670	2.028000	0.41088	2.349000	0.79799	0.655000	0.94253	CGG	ULK3	-	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	ENSG00000140474		0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	259	0.00	0	G	NM_015518		75133824	75133824	-1	no_errors	ENST00000440863	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.992	C
USP32	84669	genome.wustl.edu	37	17	58256660	58256660	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:58256660C>T	ENST00000300896.4	-	34	4965	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K	USP32_ENST00000592339.1_Missense_Mutation_p.E1261K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1591					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAAAGTCTTCATCCATACTG	0.453																																						dbGAP											0													109.0	89.0	96.0					17																	58256660		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4771G>A	17.37:g.58256660C>T	ENSP00000300896:p.Glu1591Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.E1591K	ENST00000300896.4	37	c.4771	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.453915	0.96223	.	.	ENSG00000170832	ENST00000300896	T	0.48522	0.81	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.67518	-0.5650	10	0.62326	D	0.03	.	18.2487	0.89996	0.0:1.0:0.0:0.0	.	1591	Q8NFA0	UBP32_HUMAN	K	1591	ENSP00000300896:E1591K	ENSP00000300896:E1591K	E	-	1	0	USP32	55611442	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.783000	0.85696	2.560000	0.86352	0.563000	0.77884	GAA	USP32	-	NULL	ENSG00000170832		0.453	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	324	0.00	0	C	NM_032582		58256660	58256660	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	176	12.00	24	SNP	1.000	T
USP39	10713	genome.wustl.edu	37	2	85852772	85852772	+	Silent	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr2:85852772G>C	ENST00000323701.6	+	5	691	c.681G>C	c.(679-681)ctG>ctC	p.L227L	USP39_ENST00000409470.1_Silent_p.L227L|USP39_ENST00000409025.1_Silent_p.L227L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Silent_p.L227L|USP39_ENST00000450066.2_Silent_p.L124L	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	227	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTGTGGGACTGAATAACATAA	0.478																																						dbGAP											0													144.0	132.0	136.0					2																	85852772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.681G>C	2.37:g.85852772G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L227	ENST00000323701.6	37	c.681	CCDS33234.1	2																																																																																			USP39	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000168883		0.478	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	176	0.00	0	G	NM_006590		85852772	85852772	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	silent	112	10.40	13	SNP	1.000	C
USP45	85015	genome.wustl.edu	37	6	99885230	99885230	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:99885230C>G	ENST00000327681.6	-	17	2738	c.2206G>C	c.(2206-2208)Gtg>Ctg	p.V736L	USP45_ENST00000500704.2_Missense_Mutation_p.V736L|USP45_ENST00000539675.1_Missense_Mutation_p.V29L|USP45_ENST00000392738.2_Missense_Mutation_p.V416L|USP45_ENST00000369233.2_Missense_Mutation_p.V688L	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	736	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTATGTTCCACTATGCCATAG	0.353																																						dbGAP											0													118.0	106.0	110.0					6																	99885230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2206G>C	6.37:g.99885230C>G	ENSP00000333376:p.Val736Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.V736L	ENST00000327681.6	37	c.2206	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472864	0.63737	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.33865	1.39;3.93;3.93;1.39;1.39	5.65	4.78	0.61160	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.44519	0.1297	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.979	T	0.49103	-0.8974	10	0.66056	D	0.02	.	14.4757	0.67544	0.0:0.9293:0.0:0.0707	.	736;416	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	L	416;736;736;29;688	ENSP00000376495:V416L;ENSP00000424372:V736L;ENSP00000333376:V736L;ENSP00000439569:V29L;ENSP00000358236:V688L	ENSP00000333376:V736L	V	-	1	0	USP45	99991951	1.000000	0.71417	0.999000	0.59377	0.044000	0.14063	7.329000	0.79170	1.394000	0.46624	-0.218000	0.12543	GTG	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000123552		0.353	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	307	0.00	0	C	NM_032929		99885230	99885230	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	missense	177	11.94	24	SNP	1.000	G
USP7	7874	genome.wustl.edu	37	16	9009153	9009153	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:9009153C>G	ENST00000344836.4	-	10	1234	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	USP7_ENST00000535863.1_Missense_Mutation_p.D247H|USP7_ENST00000381886.4_Missense_Mutation_p.D330H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	346	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCATAATAATCTTCTCTTCTA	0.303																																						dbGAP											0													147.0	141.0	143.0					16																	9009153		2197	4300	6497	-	-	-	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1036G>C	16.37:g.9009153C>G	ENSP00000343535:p.Asp346His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.D346H	ENST00000344836.4	37	c.1036	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801034	0.70567	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05580	3.42;3.42;3.42	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.43757	1.38	0.80722	D	1	D;D	0.60575	0.979;0.988	P;P	0.59643	0.861;0.861	T	0.00074	-1.2124	10	0.56958	D	0.05	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	346;330	Q93009;B7Z815	UBP7_HUMAN;.	H	346;354;247;247;288	ENSP00000343535:D346H;ENSP00000443646:D247H;ENSP00000439272:D288H	ENSP00000343535:D346H	D	-	1	0	USP7	8916654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.736000	0.93811	0.655000	0.94253	GAT	USP7	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000187555		0.303	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	311	0.00	0	C			9009153	9009153	-1	no_errors	ENST00000344836	ensembl	human	known	69_37n	missense	154	10.98	19	SNP	1.000	G
UTRN	7402	genome.wustl.edu	37	6	145119080	145119080	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:145119080C>G	ENST00000367545.3	+	63	9199	c.9199C>G	c.(9199-9201)Cag>Gag	p.Q3067E	UTRN_ENST00000367526.4_Missense_Mutation_p.Q622E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3067	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCAAAACATCAGGCCAAATG	0.458																																						dbGAP											0													123.0	126.0	125.0					6																	145119080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9199C>G	6.37:g.145119080C>G	ENSP00000356515:p.Gln3067Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q3067E	ENST00000367545.3	37	c.9199	CCDS34547.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.597370|3.597370	0.66332|0.66332	.|.	.|.	ENSG00000152818|ENSG00000152818	ENST00000367524|ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142	.|D;D;D;D	.|0.87491	.|-2.26;-2.26;-2.26;-2.26	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Zinc finger, ZZ-type (3);	.|0.000000	.|0.49916	.|D	.|0.000121	D|D	0.90293|0.90293	0.6964|0.6964	L|L	0.45352|0.45352	1.415|1.415	0.54753|0.54753	D|D	0.999987|0.999987	.|P	.|0.38048	.|0.616	.|P	.|0.59761	.|0.863	D|D	0.90670|0.90670	0.4597|0.4597	5|10	.|0.87932	.|D	.|0	.|.	19.7824|19.7824	0.96422|0.96422	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3067	.|P46939	.|UTRO_HUMAN	M|E	110|3067;622;26;26;26	.|ENSP00000356515:Q3067E;ENSP00000356496:Q622E;ENSP00000398923:Q26E;ENSP00000404205:Q26E	.|ENSP00000356496:Q622E	I|Q	+|+	3|1	3|0	UTRN|UTRN	145160773|145160773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.794000|7.794000	0.85869|0.85869	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	ATC|CAG	UTRN	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ	ENSG00000152818		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	184	0.00	0	C			145119080	145119080	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	118	11.94	16	SNP	1.000	G
VAC14	55697	genome.wustl.edu	37	16	70732665	70732665	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:70732665C>G	ENST00000261776.5	-	15	1971	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H	VAC14_ENST00000536184.2_Missense_Mutation_p.D3H	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	571					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AGCAGGATGTCTGCCATTGAG	0.607																																						dbGAP											0													177.0	118.0	138.0					16																	70732665		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1711G>C	16.37:g.70732665C>G	ENSP00000261776:p.Asp571His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_DUF3434,pfam_HEAT,superfamily_ARM-type_fold	p.D571H	ENST00000261776.5	37	c.1711	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716036	0.89205	.	.	ENSG00000103043	ENST00000261776;ENST00000536184	T	0.68181	-0.31	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	L	0.39245	1.2	0.80722	D	1	D;P	0.61080	0.989;0.77	D;P	0.65773	0.938;0.525	T	0.77487	-0.2569	10	0.59425	D	0.04	-28.4179	18.5358	0.91010	0.0:1.0:0.0:0.0	.	501;571	B4DMP4;Q08AM6	.;VAC14_HUMAN	H	571;3	ENSP00000261776:D571H	ENSP00000261776:D571H	D	-	1	0	VAC14	69290166	1.000000	0.71417	0.938000	0.37757	0.872000	0.50106	7.482000	0.81143	2.392000	0.81423	0.491000	0.48974	GAC	VAC14	-	pfam_DUF3434,superfamily_ARM-type_fold	ENSG00000103043		0.607	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	161	0.00	0	C	NM_018052		70732665	70732665	-1	no_errors	ENST00000261776	ensembl	human	known	69_37n	missense	118	11.28	15	SNP	1.000	G
VAV2	7410	genome.wustl.edu	37	9	136726381	136726381	+	Intron	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:136726381G>A	ENST00000371850.3	-	3	412				VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Intron|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCAAATGCATGATAAAGACAC	0.592																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.380+114C>T	9.37:g.136726381G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	RNA	SNP	-	NULL	ENST00000371850.3	37	NULL	CCDS48053.1	9																																																																																			VAV2	-	-	ENSG00000160293		0.592	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	51	0.00	0	G			136726381	136726381	-1	no_errors	ENST00000486113	ensembl	human	known	69_37n	rna	35	14.63	6	SNP	0.000	A
VN1R1	57191	genome.wustl.edu	37	19	57967296	57967296	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:57967296G>C	ENST00000321039.3	-	1	558	c.559C>G	c.(559-561)Ctt>Gtt	p.L187V	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	187					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L187F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ACTAATAGAAGAACAGATGCA	0.398																																						dbGAP											1	Substitution - Missense(1)	lung(1)											86.0	82.0	84.0					19																	57967296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.559C>G	19.37:g.57967296G>C	ENSP00000322339:p.Leu187Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.L187V	ENST00000321039.3	37	c.559	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399930	0.25291	.	.	ENSG00000178201	ENST00000321039	T	0.15952	2.38	4.18	-2.96	0.05547	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19644	0.0472	M	0.69248	2.105	0.09310	N	1	P	0.47962	0.903	P	0.50136	0.632	T	0.12682	-1.0538	9	0.41790	T	0.15	.	0.7044	0.00913	0.1883:0.2755:0.2561:0.2801	.	187	Q9GZP7	VN1R1_HUMAN	V	187	ENSP00000322339:L187V	ENSP00000322339:L187V	L	-	1	0	VN1R1	62659108	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.271000	0.18626	-0.454000	0.07066	0.638000	0.83543	CTT	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178201		0.398	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	233	0.00	0	G	NM_020633		57967296	57967296	-1	no_errors	ENST00000321039	ensembl	human	known	69_37n	missense	155	10.92	19	SNP	0.000	C
VPS13B	157680	genome.wustl.edu	37	8	100123447	100123447	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:100123447C>T	ENST00000358544.2	+	6	813	c.702C>T	c.(700-702)ttC>ttT	p.F234F	VPS13B_ENST00000441350.2_Silent_p.F234F|VPS13B_ENST00000355155.1_Silent_p.F234F|VPS13B_ENST00000357162.2_Silent_p.F234F|VPS13B_ENST00000395996.1_Silent_p.F234F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	234					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGTTCCTTCAGAACTCGTC	0.318																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													83.0	92.0	89.0					8																	100123447		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.702C>T	8.37:g.100123447C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.F234	ENST00000358544.2	37	c.702	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	220	0.00	0	C	NM_184042		100123447	100123447	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	175	10.26	20	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12382770	12382770	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:12382770G>C	ENST00000358136.3	+	34	8012	c.7882G>C	c.(7882-7884)Gaa>Caa	p.E2628Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2628Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAAATCAGAGAAGGGACAAG	0.468																																						dbGAP											0													87.0	88.0	88.0					1																	12382770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7882G>C	1.37:g.12382770G>C	ENSP00000350854:p.Glu2628Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E2628Q	ENST00000358136.3	37	c.7882	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.572131|3.572131	0.65765|0.65765	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53640	.|0.63;0.61	5.86|5.86	5.86|5.86	0.93980|0.93980	.|UBA-like (1);	0.292909|0.292909	0.31312|0.31312	N|N	0.007866|0.007866	T|T	0.39489|0.39489	0.1080|0.1080	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.31383	.|0.31;0.321;0.09	.|B;B;B	.|0.34931	.|0.134;0.192;0.092	T|T	0.12708|0.12708	-1.0537|-1.0537	6|10	.|0.17832	.|T	.|0.49	.|.	20.1802|20.1802	0.98196|0.98196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|535;2628;2628	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	D|Q	1450|2628	.|ENSP00000348666:E2628Q;ENSP00000350854:E2628Q	.|ENSP00000348666:E2628Q	E|E	+|+	3|1	2|0	VPS13D|VPS13D	12305357|12305357	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.910000|0.910000	0.53928|0.53928	4.395000|4.395000	0.59678|0.59678	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GAG|GAA	VPS13D	-	superfamily_UBA-like	ENSG00000048707		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	166	0.00	0	G	NM_015378		12382770	12382770	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	85	13.27	13	SNP	0.993	C
VPS33B	26276	genome.wustl.edu	37	15	91542265	91542265	+	Silent	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:91542265C>G	ENST00000333371.3	-	23	2147	c.1794G>C	c.(1792-1794)ctG>ctC	p.L598L	VPS33B_ENST00000535843.1_Silent_p.L507L|VPS33B_ENST00000535906.1_Silent_p.L571L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	598					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTGCTGTCGTCAGGAAAATGA	0.517																																						dbGAP											0													103.0	82.0	89.0					15																	91542265		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1794G>C	15.37:g.91542265C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L598	ENST00000333371.3	37	c.1794	CCDS10369.1	15																																																																																			VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000184056		0.517	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	145	0.00	0	C	NM_018668		91542265	91542265	-1	no_errors	ENST00000333371	ensembl	human	known	69_37n	silent	71	15.48	13	SNP	1.000	G
VPS41	27072	genome.wustl.edu	37	7	38908751	38908751	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:38908751C>A	ENST00000310301.4	-	3	217	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	VPS41_ENST00000395969.2_Missense_Mutation_p.D55Y	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	55					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTACCTTGTCATGGACTGTC	0.418																																						dbGAP											0													159.0	148.0	152.0					7																	38908751		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.163G>T	7.37:g.38908751C>A	ENSP00000309457:p.Asp55Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.D55Y	ENST00000310301.4	37	c.163	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745219	0.69418	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.56103	2.25;0.8;3.18;0.48;2.25	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.091369	0.85682	D	0.000000	T	0.51702	0.1690	L	0.49126	1.545	0.80722	D	1	P;P;P	0.39624	0.681;0.681;0.681	B;B;B	0.36885	0.235;0.235;0.235	T	0.55444	-0.8140	10	0.62326	D	0.03	-28.9075	20.1772	0.98182	0.0:1.0:0.0:0.0	.	55;55;55	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Y	55;55;42;5;5	ENSP00000309457:D55Y;ENSP00000379297:D55Y;ENSP00000411919:D42Y;ENSP00000407835:D5Y;ENSP00000398584:D5Y	ENSP00000265745:D55Y	D	-	1	0	VPS41	38875276	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.469000	0.80959	2.778000	0.95560	0.655000	0.94253	GAC	VPS41	-	superfamily_WD40_repeat_dom,pirsf_VPS41	ENSG00000006715		0.418	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	154	0.00	0	C			38908751	38908751	-1	no_errors	ENST00000310301	ensembl	human	known	69_37n	missense	95	12.04	13	SNP	1.000	A
VPS4B	9525	genome.wustl.edu	37	18	61060743	61060743	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr18:61060743C>G	ENST00000238497.5	-	10	1335	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	378					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGCAGATCATCTACAAGATGG	0.413																																						dbGAP											0													103.0	101.0	102.0					18																	61060743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1132G>C	18.37:g.61060743C>G	ENSP00000238497:p.Asp378His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.D378H	ENST00000238497.5	37	c.1132	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617674	0.46736	.	.	ENSG00000119541	ENST00000238497	D	0.93906	-3.31	5.92	4.13	0.48395	.	0.335919	0.34156	N	0.004209	D	0.89873	0.6841	L	0.51914	1.62	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.85017	0.0909	10	0.49607	T	0.09	-12.6115	10.061	0.42275	0.0:0.8345:0.0:0.1655	.	378	O75351	VPS4B_HUMAN	H	378	ENSP00000238497:D378H	ENSP00000238497:D378H	D	-	1	0	VPS4B	59211723	1.000000	0.71417	0.679000	0.29978	0.814000	0.46013	4.892000	0.63193	0.828000	0.34709	0.543000	0.68304	GAT	VPS4B	-	NULL	ENSG00000119541		0.413	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	112	0.00	0	C	NM_004869		61060743	61060743	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	0.998	G
VSIG4	11326	genome.wustl.edu	37	X	65247917	65247917	+	Silent	SNP	A	A	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:65247917A>G	ENST00000374737.4	-	4	840	c.732T>C	c.(730-732)ccT>ccC	p.P244P	VSIG4_ENST00000455586.2_Silent_p.P244P|VSIG4_ENST00000412866.2_Silent_p.P150P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	244					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCATGGTTGTAGGTGCCTCAG	0.453																																						dbGAP											0													218.0	170.0	187.0					X																	65247917		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.732T>C	X.37:g.65247917A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y171H	ENST00000374737.4	37	c.511	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	A	0.532	-0.857254	0.02630	.	.	ENSG00000155659	ENST00000427538	.	.	.	4.41	-2.81	0.05805	.	.	.	.	.	T	0.18173	0.0436	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	1.5734	1.2235	0.01929	0.2683:0.1581:0.1039:0.4696	.	.	.	.	H	171	.	.	Y	-	1	0	VSIG4	65164642	0.237000	0.23815	0.040000	0.18447	0.222000	0.24845	0.081000	0.14823	-0.174000	0.10743	-0.568000	0.04159	TAC	VSIG4	-	NULL	ENSG00000155659		0.453	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	572	0.17	1	A	NM_007268		65247917	65247917	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427538	ensembl	human	known	69_37n	missense	287	14.07	47	SNP	0.005	G
VWA5B1	127731	genome.wustl.edu	37	1	20662862	20662862	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:20662862C>G	ENST00000375079.2	+	13	2021	c.1825C>G	c.(1825-1827)Cag>Gag	p.Q609E	VWA5B1_ENST00000289815.8_Missense_Mutation_p.Q609E|VWA5B1_ENST00000289825.4_Missense_Mutation_p.Q326E|VWA5B1_ENST00000525343.1_3'UTR|VWA5B1_ENST00000375083.4_Missense_Mutation_p.Q609E	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	609						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						CTACCACTCTCAGGATGACGG	0.592																																						dbGAP											0													61.0	61.0	61.0					1																	20662862		692	1591	2283	-	-	-	SO:0001583	missense	0			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.1825C>G	1.37:g.20662862C>G	ENSP00000364220:p.Gln609Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Nonsense_Mutation	SNP	NULL	p.S35*	ENST00000375079.2	37	c.104		1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817207	0.32145	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.1	5.1	0.69264	.	0.130517	0.52532	D	0.000073	T	0.16128	0.0388	L	0.34521	1.04	0.50313	D	0.99986	P;B;D;B	0.56521	0.5;0.211;0.976;0.122	B;B;P;B	0.50860	0.1;0.066;0.652;0.056	T	0.03025	-1.1081	10	0.07644	T	0.81	-8.8854	17.4398	0.87562	0.0:1.0:0.0:0.0	.	609;609;609;326	Q5TIE3;Q5TIE3-5;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.;.	E	609;609;609;326;609	ENSP00000289815:Q609E;ENSP00000364224:Q609E;ENSP00000289825:Q326E;ENSP00000364220:Q609E	ENSP00000289815:Q609E	Q	+	1	0	VWA5B1	20535449	1.000000	0.71417	0.494000	0.27515	0.517000	0.34286	7.066000	0.76734	2.530000	0.85305	0.542000	0.68232	CAG	VWA5B1	-	NULL	ENSG00000158816		0.592	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	102	0.00	0	C	XM_001722222		20662862	20662862	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467486	ensembl	human	known	69_37n	nonsense	60	25.00	20	SNP	0.998	G
WDR19	57728	genome.wustl.edu	37	4	39217529	39217529	+	Missense_Mutation	SNP	C	C	T	rs76599296		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:39217529C>T	ENST00000399820.3	+	11	1184	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	WDR19_ENST00000288634.7_Missense_Mutation_p.H184Y|WDR19_ENST00000506503.1_Missense_Mutation_p.H344Y	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	344					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GGGCTCACTTCATGTTTTCCT	0.478																																						dbGAP											0													82.0	80.0	81.0					4																	39217529		1943	4138	6081	-	-	-	SO:0001583	missense	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1030C>T	4.37:g.39217529C>T	ENSP00000382717:p.His344Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.H344Y	ENST00000399820.3	37	c.1030	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344397	0.41498	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	T;D;T	0.95788	3.52;-3.81;3.52	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.103566	0.64402	D	0.000003	D	0.92116	0.7501	L	0.51853	1.615	0.58432	D	0.999999	B;B	0.22983	0.013;0.078	B;B	0.19148	0.016;0.024	D	0.87929	0.2709	10	0.02654	T	1	-20.4664	17.0568	0.86536	0.0:1.0:0.0:0.0	.	344;344	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	Y	344;184;344;343	ENSP00000382717:H344Y;ENSP00000288634:H184Y;ENSP00000423491:H344Y	ENSP00000288634:H184Y	H	+	1	0	WDR19	38893924	1.000000	0.71417	0.601000	0.28877	0.991000	0.79684	4.611000	0.61162	2.450000	0.82876	0.655000	0.94253	CAT	WDR19	-	superfamily_WD40_repeat_dom	ENSG00000157796		0.478	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	166	0.00	0	C			39217529	39217529	+1	no_errors	ENST00000399820	ensembl	human	known	69_37n	missense	130	10.96	16	SNP	1.000	T
WDR31	114987	genome.wustl.edu	37	9	116094210	116094211	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:116094210_116094211GA>CG	ENST00000374193.4	-	3	338_339	c.92_93TC>CG	c.(91-93)cTC>cCG	p.L31P	WDR31_ENST00000461942.1_Intron|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.L31P	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	31										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TGCTGTGTTTGAGTTTGCTTTG	0.48																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.92_93delinsCG	9.37:g.116094210_116094211delinsCG	ENSP00000363308:p.Leu31Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0T9|Q96EG8	Silent|Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L31|p.L31P	ENST00000374193.4	37	c.93|c.92	CCDS35110.1	9																																																																																			WDR31	-	NULL	ENSG00000148225		0.480	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	243|246	0.00	0	G|A	NM_145241		116094210|116094211	116094210|116094211	-1	no_errors	ENST00000374193	ensembl	human	known	69_37n	silent|missense	157	10.80|10.73	19	SNP	0.998|1.000	C|G
WDR44	54521	genome.wustl.edu	37	X	117527075	117527075	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:117527075G>C	ENST00000254029.3	+	4	1062	c.667G>C	c.(667-669)Gat>Cat	p.D223H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.D198H|WDR44_ENST00000371825.3_Missense_Mutation_p.D223H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	223	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGAGCCTGATATAGTGGC	0.532																																						dbGAP											0													125.0	114.0	118.0					X																	117527075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.667G>C	X.37:g.117527075G>C	ENSP00000254029:p.Asp223His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D223H	ENST00000254029.3	37	c.667	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.599232|4.599232	0.87055|0.87055	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.80480|.	-1.38;-0.73;-0.6|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61135|.	0.2323|.	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.996;0.999;0.999|.	T|.	0.55811|.	-0.8082|.	10|.	0.87932|.	D|.	0|.	-15.2205|-15.2205	18.7916|18.7916	0.91975|0.91975	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	198;223;223|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	H|S	198;223;223|122	ENSP00000360887:D198H;ENSP00000254029:D223H;ENSP00000360890:D223H|.	ENSP00000254029:D223H|.	D|X	+|+	1|2	0|2	WDR44|WDR44	117411103|117411103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.414000|9.414000	0.97362|0.97362	2.383000|2.383000	0.81215|0.81215	0.600000|0.600000	0.82982|0.82982	GAT|TGA	WDR44	-	NULL	ENSG00000131725		0.532	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	178	0.00	0	G	NM_019045		117527075	117527075	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	97	10.19	11	SNP	1.000	C
CFAP44	55779	genome.wustl.edu	37	3	113046579	113046579	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:113046579C>T	ENST00000393845.2	-	27	4270	c.4204G>A	c.(4204-4206)Gac>Aac	p.D1402N	WDR52_ENST00000308346.6_Missense_Mutation_p.D5N	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGTGCAGGTCAGATAATTTC	0.363																																						dbGAP											0													221.0	178.0	191.0					3																	113046579		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000393845.2:c.4204G>A	3.37:g.113046579C>T	ENSP00000377428:p.Asp1402Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.D1402N	ENST00000393845.2	37	c.4204	CCDS54624.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561382	0.86335	.	.	ENSG00000206530	ENST00000393845;ENST00000308346	T	0.12039	2.72	6.07	6.07	0.98685	.	0.043808	0.85682	D	0.000000	T	0.34890	0.0913	L	0.57536	1.79	0.35609	D	0.808531	D	0.76494	0.999	D	0.74023	0.982	T	0.05419	-1.0886	10	0.20046	T	0.44	-28.6217	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1402	Q96MT7-2	.	N	1402;5	ENSP00000377428:D1402N	ENSP00000311497:D5N	D	-	1	0	WDR52	114529269	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.965000	0.63708	2.885000	0.99019	0.655000	0.94253	GAC	WDR52	-	NULL	ENSG00000206530		0.363	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		305	0.00	0	C			113046579	113046579	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	missense	155	20.10	39	SNP	1.000	T
WDR49	151790	genome.wustl.edu	37	3	167250737	167250737	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:167250737C>A	ENST00000308378.3	-	8	1232	c.927G>T	c.(925-927)tgG>tgT	p.W309C	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.W134C|WDR49_ENST00000453925.2_Missense_Mutation_p.W373C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	309										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCTATTGTTCCATAGAACAA	0.368																																						dbGAP											0													131.0	112.0	118.0					3																	167250737		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.927G>T	3.37:g.167250737C>A	ENSP00000311343:p.Trp309Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W309C	ENST00000308378.3	37	c.927	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.720925|2.720925	0.48728|0.48728	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|D;D;D	.|0.83506	.|-1.73;-1.73;-1.73	5.82|5.82	5.82|5.82	0.92795|0.92795	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95345|0.95345	0.8489|0.8489	H|H	0.98818|0.98818	4.34|4.34	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96924|0.96924	0.9676|0.9676	5|10	.|0.87932	.|D	.|0	.|.	18.8836|18.8836	0.92367|0.92367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;309	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	V|C	385|309;134;373	.|ENSP00000311343:W309C;ENSP00000420508:W134C;ENSP00000410863:W373C	.|ENSP00000311343:W309C	G|W	-|-	2|3	0|0	WDR49|WDR49	168733431|168733431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.326000|0.326000	0.28443|0.28443	4.902000|4.902000	0.63266|0.63266	2.760000|2.760000	0.94817|0.94817	0.563000|0.563000	0.77884|0.77884	GGA|TGG	WDR49	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174776		0.368	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	267	0.00	0	C	NM_178824		167250737	167250737	-1	no_errors	ENST00000308378	ensembl	human	known	69_37n	missense	122	17.57	26	SNP	1.000	A
WDR66	144406	genome.wustl.edu	37	12	122441575	122441575	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr12:122441575G>A	ENST00000288912.4	+	22	4209	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1119							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AATTTGCCTTGAAGAAGAACT	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)	dbGAP											0													120.0	109.0	112.0					12																	122441575		1864	4108	5972	-	-	-	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3355G>A	12.37:g.122441575G>A	ENSP00000288912:p.Glu1119Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E1119K	ENST00000288912.4	37	c.3355	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442870	0.63067	.	.	ENSG00000158023	ENST00000288912	T	0.07216	3.21	5.81	3.98	0.46160	.	0.058212	0.64402	N	0.000003	T	0.09555	0.0235	L	0.36672	1.1	0.80722	D	1	B	0.33477	0.413	B	0.38106	0.265	T	0.10776	-1.0615	10	0.72032	D	0.01	.	10.9843	0.47513	0.0714:0.1298:0.7988:0.0	.	1119	Q8TBY9	WDR66_HUMAN	K	1119	ENSP00000288912:E1119K	ENSP00000288912:E1119K	E	+	1	0	WDR66	120925958	1.000000	0.71417	0.669000	0.29828	0.924000	0.55760	3.487000	0.53222	0.789000	0.33779	0.655000	0.94253	GAA	WDR66	-	NULL	ENSG00000158023		0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	417	0.00	0	G	NM_144668		122441575	122441575	+1	no_errors	ENST00000288912	ensembl	human	known	69_37n	missense	179	26.34	64	SNP	0.943	A
TBC1D31	93594	genome.wustl.edu	37	8	124138797	124138797	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:124138797G>C	ENST00000287380.1	+	13	1844	c.1754G>C	c.(1753-1755)aGa>aCa	p.R585T	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R480T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R462T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R585T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R218T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R585T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R480T	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	585	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GTGCTGACAAGAGAGGAGTGG	0.378																																						dbGAP											0													124.0	118.0	120.0					8																	124138797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1754G>C	8.37:g.124138797G>C	ENSP00000287380:p.Arg585Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.R585T	ENST00000287380.1	37	c.1754	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575220	0.65878	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.92	5.92	0.95590	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.53249	1.67	0.80722	D	1	D;P;D;D	0.89917	0.976;0.935;1.0;0.976	D;P;D;D	0.91635	0.935;0.839;0.999;0.935	T	0.22312	-1.0220	10	0.72032	D	0.01	-24.5831	20.3213	0.98679	0.0:0.0:1.0:0.0	.	585;585;480;585	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	T	585;585;585;480;462;480;218	ENSP00000287380:R585T;ENSP00000308358:R585T;ENSP00000312701:R585T;ENSP00000429334:R480T;ENSP00000430628:R462T;ENSP00000367320:R480T;ENSP00000429494:R218T	ENSP00000287380:R585T	R	+	2	0	WDR67	124207978	1.000000	0.71417	0.992000	0.48379	0.054000	0.15201	9.229000	0.95273	2.810000	0.96702	0.650000	0.86243	AGA	WDR67	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000156787		0.378	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	269	0.00	0	G	NM_145647		124138797	124138797	+1	no_errors	ENST00000287380	ensembl	human	known	69_37n	missense	176	13.30	27	SNP	1.000	C
WDR70	55100	genome.wustl.edu	37	5	37379655	37379655	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr5:37379655C>T	ENST00000265107.4	+	2	246	c.90C>T	c.(88-90)ttC>ttT	p.F30F	WDR70_ENST00000504564.1_Splice_Site_p.F30F	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	30							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACGGGGTTCGGTGAGTGAC	0.582																																						dbGAP											0													26.0	30.0	28.0					5																	37379655		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.91+1C>T	5.37:g.37379655C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H053	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F30	ENST00000265107.4	37	c.90	CCDS34147.1	5																																																																																			WDR70	-	NULL	ENSG00000082068		0.582	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	45	0.00	0	C	NM_018034	Silent	37379655	37379655	+1	no_errors	ENST00000265107	ensembl	human	known	69_37n	silent	55	14.06	9	SNP	1.000	T
WFIKKN2	124857	genome.wustl.edu	37	17	48917652	48917652	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:48917652G>A	ENST00000311378.4	+	2	1531	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E242K|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	335	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCCAGACAGTGAGGACTGTGG	0.637																																						dbGAP											0													64.0	57.0	59.0					17																	48917652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1003G>A	17.37:g.48917652G>A	ENSP00000311184:p.Glu335Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E335K	ENST00000311378.4	37	c.1003	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949491	0.34377	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.57595	0.39;0.39	5.31	5.31	0.75309	Proteinase inhibitor I2, Kunitz metazoa (5);	0.305787	0.37761	N	0.001947	T	0.47544	0.1451	L	0.29908	0.895	0.58432	D	0.999998	B	0.19445	0.036	B	0.30105	0.111	T	0.36529	-0.9744	10	0.37606	T	0.19	.	18.9732	0.92724	0.0:0.0:1.0:0.0	.	335	Q8TEU8	WFKN2_HUMAN	K	242;335	ENSP00000405889:E242K;ENSP00000311184:E335K	ENSP00000311184:E335K	E	+	1	0	WFIKKN2	46272651	1.000000	0.71417	0.996000	0.52242	0.214000	0.24535	9.850000	0.99511	2.467000	0.83353	0.561000	0.74099	GAG	WFIKKN2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000173714		0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	48	0.00	0	G	NM_175575		48917652	48917652	+1	no_errors	ENST00000311378	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	A
WFIKKN2	124857	genome.wustl.edu	37	17	48917949	48917949	+	Nonsense_Mutation	SNP	G	G	T	rs376162378		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr17:48917949G>T	ENST00000311378.4	+	2	1828	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.E341*|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	434	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCTGTGAGGAGTCGTGCCC	0.617																																						dbGAP											0													51.0	52.0	52.0					17																	48917949		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1300G>T	17.37:g.48917949G>T	ENSP00000311184:p.Glu434*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXZ9	Nonsense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E434*	ENST00000311378.4	37	c.1300	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.329077	0.99138	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	.	.	.	5.49	4.52	0.55395	.	0.160343	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.3959	0.67010	0.071:0.0:0.929:0.0	.	.	.	.	X	341;434;140	.	ENSP00000311184:E434X	E	+	1	0	WFIKKN2	46272948	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.915000	0.87484	1.338000	0.45544	0.556000	0.70494	GAG	WFIKKN2	-	pfam_Prot_inh_Kunz-m,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	ENSG00000173714		0.617	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	48	0.00	0	G	NM_175575		48917949	48917949	+1	no_errors	ENST00000311378	ensembl	human	known	69_37n	nonsense	40	11.11	5	SNP	1.000	T
NELFA	7469	genome.wustl.edu	37	4	1991547	1991547	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr4:1991547C>G	ENST00000411638.2	-	3	447	c.432G>C	c.(430-432)ttG>ttC	p.L144F	NELFA_ENST00000542778.1_Missense_Mutation_p.L9F|NELFA_ENST00000382882.3_Missense_Mutation_p.L155F	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	144					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CGTTTTTGTTCAAGTACTGGC	0.617																																						dbGAP											0													111.0	121.0	117.0					4																	1991547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.432G>C	4.37:g.1991547C>G	ENSP00000399165:p.Leu144Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T1|O95392	Missense_Mutation	SNP	NULL	p.L155F	ENST00000411638.2	37	c.465		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.61|10.61	1.398957|1.398957	0.25291|0.25291	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000453740;ENST00000411649	T;T;T;T;T|.	0.63417|.	1.33;-0.04;0.14;1.33;1.33|.	4.96|4.96	3.18|3.18	0.36537|0.36537	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.63674|.	0.2531|.	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|.	0.65364|.	-0.6186|.	10|.	0.87932|.	D|.	0|.	-17.2503|-17.2503	3.9283|3.9283	0.09273|0.09273	0.0:0.5502:0.2232:0.2266|0.0:0.5502:0.2232:0.2266	.|.	144|.	Q9H3P2|.	NELFA_HUMAN|.	F|S	155;148;9;144;160;74|45;128	ENSP00000372335:L155F;ENSP00000387647:L148F;ENSP00000445757:L9F;ENSP00000399165:L144F;ENSP00000395761:L160F|.	ENSP00000372335:L155F|.	L|X	-|-	3|2	2|2	WHSC2|WHSC2	1961345|1961345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	1.158000|1.158000	0.31737|0.31737	2.306000|2.306000	0.77630|0.77630	0.609000|0.609000	0.83330|0.83330	TTG|TGA	WHSC2	-	NULL	ENSG00000185049		0.617	NELFA-015	NOVEL	basic|appris_principal	protein_coding	WHSC2	HGNC	protein_coding	OTTHUMT00000473007.1	110	0.00	0	C	NM_005663		1991547	1991547	-1	no_errors	ENST00000382882	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	0.999	G
XIRP1	165904	genome.wustl.edu	37	3	39226263	39226263	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:39226263G>A	ENST00000340369.3	-	2	4902	c.4674C>T	c.(4672-4674)ctC>ctT	p.L1558L	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.L241L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1558					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACATGGAGCTGAGTGCCTTGT	0.567																																						dbGAP											0													98.0	96.0	97.0					3																	39226263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4674C>T	3.37:g.39226263G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.L1558	ENST00000340369.3	37	c.4674	CCDS2683.1	3																																																																																			XIRP1	-	NULL	ENSG00000168334		0.567	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	126	0.00	0	G	XM_093522		39226263	39226263	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	silent	48	18.64	11	SNP	0.581	A
YTHDF2	51441	genome.wustl.edu	37	1	29064169	29064169	+	Splice_Site	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:29064169G>C	ENST00000373812.3	+	2	389		c.e2-1		YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Intron|YTHDF2_ENST00000542507.1_Splice_Site	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2						humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCTGCAGAGACCAAAAG	0.602																																						dbGAP											0													61.0	58.0	59.0					1																	29064169		1855	4082	5937	-	-	-	SO:0001630	splice_region_variant	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.28-1G>C	1.37:g.29064169G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Splice_Site	SNP	-	e2-1	ENST00000373812.3	37	c.28-1	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072584	0.76415	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000396232	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8642	0.79052	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YTHDF2	28936756	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.482000	0.97935	2.395000	0.81488	0.467000	0.42956	.	YTHDF2	-	-	ENSG00000198492		0.602	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	191	0.00	0	G	NM_016258	Intron	29064169	29064169	+1	no_errors	ENST00000373812	ensembl	human	known	69_37n	splice_site	127	10.56	15	SNP	1.000	C
ZBTB37	84614	genome.wustl.edu	37	1	173839766	173839766	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:173839766G>A	ENST00000367701.5	+	2	594	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E135K|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E135K|ZBTB37_ENST00000367704.1_Missense_Mutation_p.E135K|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E135K			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGCTGAGGTTGAAGCAGAATT	0.433																																						dbGAP											0													54.0	53.0	54.0					1																	173839766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.403G>A	1.37:g.173839766G>A	ENSP00000356674:p.Glu135Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TC80|Q96M87|Q9BQ88	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.E135K	ENST00000367701.5	37	c.403	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273942	0.80580	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.75477	-0.93;2.64;-0.94;-0.94;2.64	5.7	4.79	0.61399	.	0.091285	0.85682	N	0.000000	T	0.50820	0.1638	L	0.27053	0.805	0.58432	D	0.999999	B;D	0.57571	0.001;0.98	B;P	0.47430	0.001;0.547	T	0.54970	-0.8213	10	0.10111	T	0.7	.	14.4187	0.67168	0.0705:0.0:0.9295:0.0	.	135;135	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	K	135;135;135;135;43;135	ENSP00000356677:E135K;ENSP00000415293:E135K;ENSP00000409408:E135K;ENSP00000356675:E135K;ENSP00000356674:E135K	ENSP00000356674:E135K	E	+	1	0	ZBTB37	172106389	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.614000	0.82996	1.413000	0.46997	0.563000	0.77884	GAA	ZBTB37	-	NULL	ENSG00000185278		0.433	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	114	0.00	0	G	NM_032522		173839766	173839766	+1	no_errors	ENST00000367701	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	1.000	A
ZDHHC13	54503	genome.wustl.edu	37	11	19173724	19173724	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:19173724C>G	ENST00000446113.2	+	7	725	c.604C>G	c.(604-606)Ctt>Gtt	p.L202V	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.L72V	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	202					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)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGGATTTCTTTTAAAGTT	0.343																																						dbGAP											0													72.0	68.0	69.0					11																	19173724		1822	4068	5890	-	-	-	SO:0001583	missense	0			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.604C>G	11.37:g.19173724C>G	ENSP00000400113:p.Leu202Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	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.L202V	ENST00000446113.2	37	c.604	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855204	0.71719	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.78364	-1.17;-1.17	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90627	0.4564	10	0.44086	T	0.13	-0.5573	18.9329	0.92574	0.0:1.0:0.0:0.0	.	202	Q8IUH4	ZDH13_HUMAN	V	202;72	ENSP00000400113:L202V;ENSP00000382288:L72V	ENSP00000382288:L72V	L	+	1	0	ZDHHC13	19130300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.998000	0.49465	2.582000	0.87167	0.591000	0.81541	CTT	ZDHHC13	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177054		0.343	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	169	0.00	0	C	NM_019028		19173724	19173724	+1	no_errors	ENST00000446113	ensembl	human	known	69_37n	missense	87	10.31	10	SNP	1.000	G
ZDHHC5	25921	genome.wustl.edu	37	11	57461342	57461342	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:57461342G>A	ENST00000287169.3	+	8	2202	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ZDHHC5_ENST00000527985.1_Silent_p.V227V	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	280					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGATAACTGTGAAGATCATGG	0.443																																						dbGAP											0													85.0	76.0	79.0					11																	57461342		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.840G>A	11.37:g.57461342G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.V280	ENST00000287169.3	37	c.840	CCDS7965.1	11																																																																																			ZDHHC5	-	NULL	ENSG00000156599		0.443	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	163	0.00	0	G	NM_015457		57461342	57461342	+1	no_errors	ENST00000287169	ensembl	human	known	69_37n	silent	81	14.58	14	SNP	1.000	A
ZFP30	22835	genome.wustl.edu	37	19	38126340	38126340	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:38126340G>A	ENST00000351218.2	-	6	1659	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.H368Y|ZFP30_ENST00000514101.2_Missense_Mutation_p.H368Y	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	368					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGTTAGATGATAGCCACGA	0.413																																						dbGAP											0													71.0	73.0	72.0					19																	38126340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1102C>T	19.37:g.38126340G>A	ENSP00000343581:p.His368Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58EY8	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.H368Y	ENST00000351218.2	37	c.1102	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450578	0.26074	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.07444	3.19;3.19;3.19	3.9	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36002	N	0.002857	T	0.15046	0.0363	N	0.26162	0.8	0.26537	N	0.974149	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.02983	-1.1086	10	0.40728	T	0.16	.	12.2192	0.54425	0.0:0.0:0.8292:0.1708	.	368;368	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	Y	368;368;368;283	ENSP00000343581:H368Y;ENSP00000422930:H368Y;ENSP00000375988:H368Y	ENSP00000343581:H368Y	H	-	1	0	ZFP30	42818180	0.000000	0.05858	0.999000	0.59377	0.957000	0.61999	-1.662000	0.01970	2.175000	0.68902	0.591000	0.81541	CAT	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.413	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	170	0.00	0	G	NM_014898		38126340	38126340	-1	no_errors	ENST00000351218	ensembl	human	known	69_37n	missense	70	27.08	26	SNP	0.934	A
ZIK1	284307	genome.wustl.edu	37	19	58102291	58102291	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:58102291G>A	ENST00000597850.1	+	4	1327	c.1112G>A	c.(1111-1113)aGa>aAa	p.R371K	ZIK1_ENST00000599456.1_Missense_Mutation_p.R316K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R358K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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;0.0257)		CAACACCGAAGAATTCACACT	0.423																																						dbGAP											0													70.0	69.0	70.0					19																	58102291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.1112G>A	19.37:g.58102291G>A	ENSP00000472867:p.Arg371Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43339|Q3SY51|Q3SY53	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.R371K	ENST00000597850.1	37	c.1112	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428216	0.25726	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.02197	4.4	3.37	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	L	0.41632	1.29	0.09310	N	1	P;P	0.37500	0.597;0.492	B;B	0.41646	0.362;0.287	T	0.42498	-0.9448	9	0.45353	T	0.12	.	11.4879	0.50365	0.0:0.1843:0.8157:0.0	.	358;371	F5H435;Q3SY52	.;ZIK1_HUMAN	K	358;324;371	ENSP00000438487:R358K	ENSP00000303820:R371K	R	+	2	0	ZIK1	62794103	0.000000	0.05858	0.178000	0.23040	0.612000	0.37316	-0.837000	0.04377	0.707000	0.31934	0.655000	0.94253	AGA	ZIK1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171649		0.423	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	213	0.00	0	G	NM_001010879		58102291	58102291	+1	no_errors	ENST00000307468	ensembl	human	known	69_37n	missense	129	15.13	23	SNP	0.074	A
ZNF107	51427	genome.wustl.edu	37	7	64166948	64166948	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr7:64166948C>G	ENST00000395391.1	+	4	1641	c.266C>G	c.(265-267)tCa>tGa	p.S89*	ZNF107_ENST00000344930.3_Nonsense_Mutation_p.S89*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.S89*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GATAAATTTTCAAATTCAAAT	0.328																																						dbGAP											0													34.0	34.0	34.0					7																	64166948		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.266C>G	7.37:g.64166948C>G	ENSP00000378789:p.Ser89*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S89*	ENST00000395391.1	37	c.266	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	16.58	3.163775	0.57476	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	.	.	.	0.916	0.916	0.19373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.7421	0.13017	0.0:0.5963:0.4037:0.0	.	.	.	.	X	89	.	ENSP00000343443:S89X	S	+	2	0	ZNF107	63804383	0.000000	0.05858	0.175000	0.22980	0.170000	0.22686	-0.428000	0.06991	0.300000	0.22699	0.305000	0.20034	TCA	ZNF107	-	NULL	ENSG00000196247		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	124	0.00	0	C	NM_016220		64166948	64166948	+1	no_errors	ENST00000344930	ensembl	human	known	69_37n	nonsense	50	12.28	7	SNP	0.001	G
ZNF16	7564	genome.wustl.edu	37	8	146156836	146156836	+	Missense_Mutation	SNP	G	G	C	rs141742549		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:146156836G>C	ENST00000276816.4	-	4	1523	c.1337C>G	c.(1336-1338)tCc>tGc	p.S446C	ZNF16_ENST00000394909.2_Missense_Mutation_p.S446C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	446					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AATAAGGCTGGAGCTCTGACT	0.483																																						dbGAP											0													86.0	82.0	83.0					8																	146156836		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1337C>G	8.37:g.146156836G>C	ENSP00000276816:p.Ser446Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S446C	ENST00000276816.4	37	c.1337	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937115	0.34189	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.01725	4.67;4.67	3.88	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08126	-1.0737	9	0.87932	D	0	.	7.9458	0.29985	0.0:0.1735:0.6482:0.1783	.	446	P17020	ZNF16_HUMAN	C	446	ENSP00000276816:S446C;ENSP00000378369:S446C	ENSP00000276816:S446C	S	-	2	0	ZNF16	146127640	0.000000	0.05858	0.997000	0.53966	0.837000	0.47467	0.037000	0.13840	1.985000	0.57927	0.462000	0.41574	TCC	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170631		0.483	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	217	0.00	0	G	NM_006958		146156836	146156836	-1	no_errors	ENST00000276816	ensembl	human	known	69_37n	missense	138	11.54	18	SNP	0.007	C
ZNF175	7728	genome.wustl.edu	37	19	52091164	52091164	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:52091164G>C	ENST00000262259.2	+	5	1938	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	527					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ATTCATACTGGAGAAAGACAC	0.428																																						dbGAP											0													42.0	43.0	42.0					19																	52091164		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1580G>C	19.37:g.52091164G>C	ENSP00000262259:p.Gly527Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H2	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.G527A	ENST00000262259.2	37	c.1580	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070251	0.55539	.	.	ENSG00000105497	ENST00000262259	T	0.26373	1.74	2.56	1.52	0.23074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30792	0.0776	M	0.81179	2.53	0.80722	D	1	D	0.63046	0.992	P	0.44597	0.454	T	0.26258	-1.0108	9	0.87932	D	0	.	7.4044	0.26983	0.1415:0.0:0.8585:0.0	.	527	Q9Y473	ZN175_HUMAN	A	527	ENSP00000262259:G527A	ENSP00000262259:G527A	G	+	2	0	ZNF175	56782976	1.000000	0.71417	0.800000	0.32199	0.989000	0.77384	4.064000	0.57506	0.645000	0.30675	0.655000	0.94253	GGA	ZNF175	-	pfscan_Znf_C2H2	ENSG00000105497		0.428	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	181	0.55	1	G	NM_007147		52091164	52091164	+1	no_errors	ENST00000262259	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	1.000	C
ZSCAN9	7746	genome.wustl.edu	37	6	28195500	28195500	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr6:28195500C>T	ENST00000252207.5	+	3	601	c.453C>T	c.(451-453)ctC>ctT	p.L151L	ZSCAN9_ENST00000531981.1_Silent_p.L160L|ZSCAN9_ENST00000425468.2_Silent_p.L151L|ZSCAN9_ENST00000531979.1_Silent_p.L151L|ZSCAN9_ENST00000527436.1_Silent_p.L151L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	151					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)										AAGAAGTCCTCTGTAAAGAGA	0.463																																						dbGAP											0													68.0	63.0	65.0					6																	28195500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.453C>T	6.37:g.28195500C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1W6|E7EVQ2|Q2TTR1	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L151	ENST00000252207.5	37	c.453	CCDS4646.1	6																																																																																			ZNF193	-	smart_Tscrpt_reg_SCAN	ENSG00000137185		0.463	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF193	HGNC	protein_coding	OTTHUMT00000040183.2	62	0.00	0	C	NM_006299		28195500	28195500	+1	no_errors	ENST00000252207	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.002	T
ZNF211	10520	genome.wustl.edu	37	19	58152161	58152161	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:58152161G>C	ENST00000347302.3	+	3	486	c.307G>C	c.(307-309)Ggt>Cgt	p.G103R	ZNF211_ENST00000391703.3_Missense_Mutation_p.G42R|ZNF211_ENST00000544273.1_Missense_Mutation_p.G115R|ZNF211_ENST00000420680.1_Missense_Mutation_p.G107R|ZNF211_ENST00000240731.4_Missense_Mutation_p.G116R|ZNF211_ENST00000299871.5_Missense_Mutation_p.G168R|ZNF211_ENST00000541801.1_Missense_Mutation_p.G94R|ZNF211_ENST00000254182.7_Missense_Mutation_p.G94R	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	103	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCAAAGAAGGTTCATCTTC	0.448																																						dbGAP											0													103.0	104.0	103.0					19																	58152161		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.307G>C	19.37:g.58152161G>C	ENSP00000339562:p.Gly103Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	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.G116R	ENST00000347302.3	37	c.346	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.24|15.24	2.774373|2.774373	0.49786|0.49786	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.07567|.	3.26;3.28;3.18;3.25;3.18;3.32;3.27;3.27|.	4.0|4.0	2.96|2.96	0.34315|0.34315	Krueppel-associated box (1);|.	.|.	.|.	.|.	.|.	T|T	0.34774|0.34774	0.0909|0.0909	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;B;D;B;B;B|.	0.76494|.	0.048;0.206;0.999;0.048;0.131;0.131|.	B;B;D;B;B;B|.	0.70016|.	0.033;0.052;0.967;0.033;0.023;0.023|.	T|T	0.23476|0.23476	-1.0187|-1.0187	9|5	0.14656|.	T|.	0.56|.	.|.	4.1247|4.1247	0.10121|0.10121	0.2128:0.1958:0.5914:0.0|0.2128:0.1958:0.5914:0.0	.|.	107;115;168;94;103;116|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	R|T	107;103;94;42;94;168;115;116|106	ENSP00000399193:G107R;ENSP00000339562:G103R;ENSP00000254182:G94R;ENSP00000375584:G42R;ENSP00000442601:G94R;ENSP00000299871:G168R;ENSP00000441386:G115R;ENSP00000240731:G116R|.	ENSP00000240731:G116R|.	G|R	+|+	1|2	0|0	ZNF211|ZNF211	62843973|62843973	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.554000|0.554000	0.35429|0.35429	0.482000|0.482000	0.22276|0.22276	0.907000|0.907000	0.36646|0.36646	-0.218000|-0.218000	0.12543|0.12543	GGT|AGG	ZNF211	-	pfscan_Krueppel-associated_box	ENSG00000121417		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	199	0.00	0	G			58152161	58152161	+1	no_errors	ENST00000240731	ensembl	human	known	69_37n	missense	167	16.42	33	SNP	0.003	C
ZNF256	10172	genome.wustl.edu	37	19	58452716	58452716	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:58452716C>T	ENST00000282308.3	-	3	1656	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	487					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AGGCCTTGCTCCAGTATGAAC	0.453																																					NSCLC(55;1313 1552 8040 11996)	dbGAP											0													87.0	85.0	86.0					19																	58452716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1460G>A	19.37:g.58452716C>T	ENSP00000282308:p.Gly487Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA92|Q53Y85|Q9BV71	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.G487E	ENST00000282308.3	37	c.1460	CCDS12966.1	19	.	.	.	.	.	.	.	.	.	.	.	22.0	4.224876	0.79576	.	.	ENSG00000152454	ENST00000282308	T	0.25749	1.78	2.96	2.96	0.34315	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26268	0.0641	L	0.51914	1.62	0.31262	N	0.692838	D	0.67145	0.996	P	0.46172	0.506	T	0.31888	-0.9927	9	0.87932	D	0	.	7.4356	0.27154	0.0:0.8698:0.0:0.1302	.	487	Q9Y2P7	ZN256_HUMAN	E	487	ENSP00000282308:G487E	ENSP00000282308:G487E	G	-	2	0	ZNF256	63144528	0.001000	0.12720	0.102000	0.21198	0.753000	0.42808	1.281000	0.33214	1.641000	0.50575	0.467000	0.42956	GGA	ZNF256	-	pfscan_Znf_C2H2	ENSG00000152454		0.453	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	215	0.00	0	C			58452716	58452716	-1	no_errors	ENST00000282308	ensembl	human	known	69_37n	missense	110	20.00	28	SNP	0.991	T
ZNF326	284695	genome.wustl.edu	37	1	90470570	90470570	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:90470570C>T	ENST00000340281.4	+	3	213	c.70C>T	c.(70-72)Cgt>Tgt	p.R24C	ZNF326_ENST00000455342.2_5'UTR|ZNF326_ENST00000370447.3_Missense_Mutation_p.R24C|ZNF326_ENST00000361911.5_Missense_Mutation_p.R24C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	24	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGAATGGATCGTGATTATGG	0.353																																						dbGAP											0													194.0	188.0	190.0					1																	90470570		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.70C>T	1.37:g.90470570C>T	ENSP00000340796:p.Arg24Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.R24C	ENST00000340281.4	37	c.70	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641326	0.67244	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.54279	0.71;0.58	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000003	T	0.43853	0.1266	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.57324	0.818;0.719	T	0.50931	-0.8769	10	0.72032	D	0.01	-8.8055	12.8012	0.57586	0.0:0.8356:0.1644:0.0	.	24;24	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	24	ENSP00000340796:R24C;ENSP00000359476:R24C	ENSP00000340796:R24C	R	+	1	0	ZNF326	90243158	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.482000	0.45224	2.614000	0.88457	0.467000	0.42956	CGT	ZNF326	-	NULL	ENSG00000162664		0.353	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	555	0.00	0	C	NM_181781		90470570	90470570	+1	no_errors	ENST00000340281	ensembl	human	known	69_37n	missense	239	12.36	34	SNP	1.000	T
ZNF329	79673	genome.wustl.edu	37	19	58639365	58639365	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:58639365C>G	ENST00000598312.1	-	4	1739	c.1506G>C	c.(1504-1506)caG>caC	p.Q502H	ZNF329_ENST00000358067.4_Missense_Mutation_p.Q502H	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TATGGAGTCTCTGATGTACTG	0.512																																						dbGAP											0													145.0	139.0	141.0					19																	58639365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1506G>C	19.37:g.58639365C>G	ENSP00000470008:p.Gln502His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q502H	ENST00000598312.1	37	c.1506	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590275	0.28357	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.30448	1.53;1.53	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001258	T	0.33962	0.0881	M	0.81682	2.555	0.34936	D	0.749806	D	0.56035	0.974	B	0.43155	0.41	T	0.54207	-0.8328	10	0.56958	D	0.05	-12.5004	6.4425	0.21856	0.0:0.8079:0.0:0.1921	.	502	Q86UD4	ZN329_HUMAN	H	502	ENSP00000350773:Q502H;ENSP00000439527:Q502H	ENSP00000350773:Q502H	Q	-	3	2	ZNF329	63331177	0.000000	0.05858	1.000000	0.80357	0.965000	0.64279	-0.097000	0.11042	2.652000	0.90054	0.655000	0.94253	CAG	ZNF329	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181894		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	132	0.00	0	C	NM_024620		58639365	58639365	-1	no_errors	ENST00000358067	ensembl	human	known	69_37n	missense	116	18.31	26	SNP	0.998	G
ZNF41	7592	genome.wustl.edu	37	X	47308438	47308438	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chrX:47308438T>C	ENST00000377065.4	-	5	1370	c.731A>G	c.(730-732)gAa>gGa	p.E244G	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E254G|ZNF41_ENST00000313116.7_Missense_Mutation_p.E244G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	286					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)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTGGTCATGTTCACAGGAATT	0.408																																						dbGAP											0													200.0	175.0	183.0					X																	47308438		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.731A>G	X.37:g.47308438T>C	ENSP00000366265:p.Glu244Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.E254G	ENST00000377065.4	37	c.761	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	4.667	0.124093	0.08931	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.29917	1.55;1.55;1.55	3.44	-0.715	0.11215	.	0.678809	0.12160	N	0.494106	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.27559	0.001;0.001;0.181;0.001;0.001	B;B;B;B;B	0.26864	0.001;0.001;0.074;0.001;0.001	T	0.21314	-1.0249	10	0.62326	D	0.03	.	0.4589	0.00513	0.3719:0.1202:0.1879:0.3199	.	244;246;254;278;286	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	G	244;244;254	ENSP00000315173:E244G;ENSP00000366265:E244G;ENSP00000380243:E254G	ENSP00000315173:E244G	E	-	2	0	ZNF41	47193382	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.190000	0.17057	-0.220000	0.09988	0.412000	0.27726	GAA	ZNF41	-	NULL	ENSG00000147124		0.408	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	389	0.00	0	T	NM_153380		47308438	47308438	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	missense	227	10.98	28	SNP	0.000	C
ZNF429	353088	genome.wustl.edu	37	19	21719431	21719431	+	Missense_Mutation	SNP	G	G	C	rs577200970		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:21719431G>C	ENST00000358491.4	+	4	784	c.576G>C	c.(574-576)aaG>aaC	p.K192N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTCAACATAAGAAAATTCATA	0.343													g|||	1	0.000199681	0.0	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													50.0	54.0	53.0					19																	21719431		2191	4299	6490	-	-	-	SO:0001583	missense	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.576G>C	19.37:g.21719431G>C	ENSP00000351280:p.Lys192Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV7|Q9BZE6	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.K192N	ENST00000358491.4	37	c.576	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	11.08	1.534215	0.27475	.	.	ENSG00000197013	ENST00000358491	T	0.15718	2.4	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	M	0.65677	2.01	0.22479	N	0.999061	D	0.60575	0.988	P	0.50934	0.654	T	0.13308	-1.0514	9	0.66056	D	0.02	.	3.5982	0.08014	0.5105:0.0:0.4895:0.0	.	192	Q86V71	ZN429_HUMAN	N	192	ENSP00000351280:K192N	ENSP00000351280:K192N	K	+	3	2	ZNF429	21511271	0.000000	0.05858	0.051000	0.19133	0.050000	0.14768	-0.003000	0.12901	0.293000	0.22520	0.298000	0.19748	AAG	ZNF429	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.343	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	209	0.00	0	G	NM_001001415		21719431	21719431	+1	no_errors	ENST00000358491	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	0.926	C
ZNF429	353088	genome.wustl.edu	37	19	21720033	21720033	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:21720033G>C	ENST00000358491.4	+	4	1386	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATTCATACTGGAGAGGAACCC	0.368																																						dbGAP											0													42.0	49.0	46.0					19																	21720033		2003	4207	6210	-	-	-	SO:0001583	missense	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1178G>C	19.37:g.21720033G>C	ENSP00000351280:p.Gly393Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV7|Q9BZE6	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.G393A	ENST00000358491.4	37	c.1178	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	12.26	1.885664	0.33255	.	.	ENSG00000197013	ENST00000358491	T	0.01505	4.82	0.185	0.185	0.15096	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	L	0.45051	1.395	0.32431	N	0.548092	P	0.39071	0.658	B	0.33196	0.159	T	0.42258	-0.9462	9	0.72032	D	0.01	.	7.9548	0.30035	1.0E-4:0.0:0.9999:0.0	.	393	Q86V71	ZN429_HUMAN	A	393	ENSP00000351280:G393A	ENSP00000351280:G393A	G	+	2	0	ZNF429	21511873	0.003000	0.15002	0.050000	0.19076	0.050000	0.14768	0.065000	0.14466	0.293000	0.22520	0.298000	0.19748	GGA	ZNF429	-	pfscan_Znf_C2H2	ENSG00000197013		0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	93	0.00	0	G	NM_001001415		21720033	21720033	+1	no_errors	ENST00000358491	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	C
ZNF473	25888	genome.wustl.edu	37	19	50548387	50548387	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:50548387C>T	ENST00000595661.1	+	6	1182	c.687C>T	c.(685-687)atC>atT	p.I229I	ZNF473_ENST00000270617.3_Silent_p.I229I|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.I217I|ZNF473_ENST00000391821.2_Silent_p.I229I|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	229					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCACTGGATCACTCATACTA	0.483																																						dbGAP											0													98.0	85.0	90.0					19																	50548387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.687C>T	19.37:g.50548387C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	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.I229	ENST00000595661.1	37	c.687	CCDS33077.1	19																																																																																			ZNF473	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142528		0.483	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	107	0.00	0	C	XM_046390		50548387	50548387	+1	no_errors	ENST00000270617	ensembl	human	known	69_37n	silent	59	24.36	19	SNP	0.000	T
ZNF432	9668	genome.wustl.edu	37	19	52538393	52538393	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:52538393G>A	ENST00000594154.1	-	5	751	c.539C>T	c.(538-540)tCt>tTt	p.S180F	ZNF432_ENST00000221315.5_Missense_Mutation_p.S180F			O94892	ZN432_HUMAN	zinc finger protein 432	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTACTTACAGAGAATTTAGC	0.353																																						dbGAP											0													65.0	64.0	65.0					19																	52538393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.539C>T	19.37:g.52538393G>A	ENSP00000470488:p.Ser180Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		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.S180F	ENST00000594154.1	37	c.539	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.437425	0.00182	.	.	ENSG00000256087	ENST00000221315	T	0.05580	3.42	3.87	0.506	0.16961	.	.	.	.	.	T	0.02610	0.0079	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	9	0.62326	D	0.03	.	3.0755	0.06245	0.2312:0.0:0.5563:0.2125	.	180	O94892	ZN432_HUMAN	F	180	ENSP00000221315:S180F	ENSP00000221315:S180F	S	-	2	0	ZNF432	57230205	0.472000	0.25870	0.091000	0.20842	0.013000	0.08279	0.923000	0.28757	0.402000	0.25451	-0.150000	0.13652	TCT	ZNF432	-	NULL	ENSG00000256087		0.353	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	205	0.00	0	G	NM_014650		52538393	52538393	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	136	10.53	16	SNP	0.141	A
ZNF518A	9849	genome.wustl.edu	37	10	97918542	97918542	+	RNA	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:97918542G>C	ENST00000534948.1	+	0	3320							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAACACGAGAGAGAAGGCA	0.383																																						dbGAP											0													62.0	61.0	61.0					10																	97918542		1860	4097	5957	-	-	-			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918542G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.383	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		87	0.00	0	G	NM_014803		97918542	97918542	+1	no_errors	ENST00000316045	ensembl	human	known	69_37n	rna	47	11.32	6	SNP	0.002	C
ZNF518A	9849	genome.wustl.edu	37	10	97919631	97919631	+	RNA	SNP	G	G	A	rs190393075		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr10:97919631G>A	ENST00000534948.1	+	0	4409							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GAGGAGAGCAGAAAGAGCCAG	0.388																																						dbGAP											0													98.0	98.0	98.0					10																	97919631		1890	4109	5999	-	-	-			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.388	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		126	0.00	0	G	NM_014803		97919631	97919631	+1	no_errors	ENST00000316045	ensembl	human	known	69_37n	rna	68	15.00	12	SNP	1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37880266	37880266	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:37880266G>C	ENST00000436120.2	+	5	1422	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACAGGAGAGAAACCCTT	0.438																																						dbGAP											0													63.0	69.0	67.0					19																	37880266		2197	4298	6495	-	-	-	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1315G>C	19.37:g.37880266G>C	ENSP00000390179:p.Glu439Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVL5	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.E439Q	ENST00000436120.2	37	c.1315	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221384	0.79464	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	T	0.07444	3.19	3.51	3.51	0.40186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34777	N	0.003698	T	0.18215	0.0437	L	0.38649	1.16	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.934	T	0.01805	-1.1270	10	0.72032	D	0.01	.	13.9721	0.64247	0.0:0.0:1.0:0.0	.	439;407	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Q	439;407;387	ENSP00000390179:E387Q	ENSP00000325231:E407Q	E	+	1	0	ZNF527	42572106	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.935000	0.63498	1.817000	0.53016	0.655000	0.94253	GAG	ZNF527	-	pfscan_Znf_C2H2	ENSG00000189164		0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	174	0.00	0	G	NM_032453		37880266	37880266	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	87	13.73	14	SNP	1.000	C
ZNF527	84503	genome.wustl.edu	37	19	37880322	37880322	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:37880322G>A	ENST00000436120.2	+	5	1478	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTCACACCTGAATCAACATC	0.418																																						dbGAP											0													69.0	76.0	74.0					19																	37880322		2187	4290	6477	-	-	-	SO:0001819	synonymous_variant	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1371G>A	19.37:g.37880322G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVL5	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.L457	ENST00000436120.2	37	c.1371	CCDS42559.1	19																																																																																			ZNF527	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189164		0.418	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	221	0.00	0	G	NM_032453		37880322	37880322	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	silent	115	11.54	15	SNP	0.003	A
ZNF540	163255	genome.wustl.edu	37	19	38103034	38103034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:38103034G>T	ENST00000592533.1	+	5	1185	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ZNF540_ENST00000589117.1_Nonsense_Mutation_p.E253*|ZNF540_ENST00000316433.4_Nonsense_Mutation_p.E285*|ZNF540_ENST00000343599.5_Nonsense_Mutation_p.E285*	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	285					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTAGATTAGAACTTACTCA	0.284																																						dbGAP											0													27.0	31.0	30.0					19																	38103034		2166	4273	6439	-	-	-	SO:0001587	stop_gained	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.853G>T	19.37:g.38103034G>T	ENSP00000466274:p.Glu285*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.E285*	ENST00000592533.1	37	c.853	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.529040	0.96446	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	.	.	.	2.33	-1.22	0.09494	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	5.1261	0.14886	0.2388:0.1819:0.5793:0.0	.	.	.	.	X	285;253	.	ENSP00000324598:E285X	E	+	1	0	ZNF540	42794874	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	-5.731000	0.00102	-0.091000	0.12440	0.313000	0.20887	GAA	ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.284	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	67	0.00	0	G	NM_152606		38103034	38103034	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	nonsense	24	31.43	11	SNP	0.000	T
ZNF585A	199704	genome.wustl.edu	37	19	37642658	37642658	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:37642658C>G	ENST00000356958.4	-	5	2401	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	ZNF585A_ENST00000292841.5_Missense_Mutation_p.E660Q|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E660Q|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E352Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	715					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGCTTCTCTCCAGTGTGA	0.448																																						dbGAP											0													106.0	88.0	94.0					19																	37642658		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2143G>C	19.37:g.37642658C>G	ENSP00000349440:p.Glu715Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TE95|Q96MV3	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.E715Q	ENST00000356958.4	37	c.2143		19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086689	0.76642	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	3.16	3.16	0.36331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37906	N	0.001891	T	0.47637	0.1456	.	.	.	0.39897	D	0.973859	D	0.67145	0.996	D	0.65684	0.937	T	0.57866	-0.7737	9	0.72032	D	0.01	.	13.5394	0.61664	0.0:1.0:0.0:0.0	.	715	Q6P3V2	Z585A_HUMAN	Q	715;660;660;352	ENSP00000349440:E715Q;ENSP00000292841:E660Q;ENSP00000375998:E660Q;ENSP00000347724:E352Q	ENSP00000292841:E660Q	E	-	1	0	ZNF585A	42334498	0.957000	0.32711	0.994000	0.49952	0.989000	0.77384	4.223000	0.58587	1.753000	0.51906	0.655000	0.94253	GAG	ZNF585A	-	pfscan_Znf_C2H2	ENSG00000196967		0.448	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	359	0.00	0	C	NM_152655		37642658	37642658	-1	no_errors	ENST00000356958	ensembl	human	known	69_37n	missense	213	14.80	37	SNP	1.000	G
ZNF578	147660	genome.wustl.edu	37	19	53013980	53013980	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:53013980C>G	ENST00000421239.2	+	6	590	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTTTGAGTTTCAGTCACAAAA	0.393																																						dbGAP											0													97.0	101.0	100.0					19																	53013980		2196	4299	6495	-	-	-	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.346C>G	19.37:g.53013980C>G	ENSP00000459216:p.Gln116Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR51|I3L1Y6	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.Q116E	ENST00000421239.2	37	c.346	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	12.62	1.992409	0.35131	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.72	-3.43	0.04810	.	.	.	.	.	T	0.50565	0.1623	M	0.71206	2.165	0.09310	N	1	P	0.52577	0.954	D	0.65140	0.932	T	0.45264	-0.9273	7	.	.	.	.	1.0468	0.01571	0.2127:0.2442:0.3677:0.1754	.	116	G3V4F6	.	E	116	.	.	Q	+	1	0	ZNF578	57705792	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	0.098000	0.15189	-0.656000	0.05380	0.134000	0.15878	CAG	ZNF578	-	NULL	ENSG00000258405		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	222	0.00	0	C	NM_152472		53013980	53013980	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	missense	195	10.14	22	SNP	0.000	G
ZNF544	27300	genome.wustl.edu	37	19	58773307	58773307	+	Silent	SNP	C	C	T	rs374475436		TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:58773307C>T	ENST00000596652.1	+	6	1569	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ZNF544_ENST00000600044.1_Silent_p.F417F|ZNF544_ENST00000415203.2_Silent_p.F417F|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000269829.4_Silent_p.F445F|ZNF544_ENST00000600220.1_Silent_p.F417F|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Silent_p.F303F|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	445					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(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAAATCCTTCAGGTGGAACT	0.423																																						dbGAP											0													84.0	86.0	85.0					19																	58773307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1335C>T	19.37:g.58773307C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J1|Q9UEX4	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.F445	ENST00000596652.1	37	c.1335	CCDS12973.1	19																																																																																			ZNF544	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198131		0.423	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	219	0.00	0	C	NM_014480		58773307	58773307	+1	no_errors	ENST00000269829	ensembl	human	known	69_37n	silent	129	13.42	20	SNP	0.000	T
ZNF619	285267	genome.wustl.edu	37	3	40529818	40529818	+	3'UTR	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr3:40529818C>G	ENST00000314686.5	+	0	2174				ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_3'UTR|ZNF619_ENST00000429348.2_3'UTR|ZNF619_ENST00000447116.2_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCCTCTGGTCTTGTCTTGTA	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.*86C>G	3.37:g.40529818C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	RNA	SNP	-	NULL	ENST00000314686.5	37	NULL		3																																																																																			ZNF619	-	-	ENSG00000177873		0.408	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	53	0.00	0	C	NM_173656		40529818	40529818	+1	no_errors	ENST00000520737	ensembl	human	known	69_37n	rna	19	17.39	4	SNP	0.007	G
ZNF625	90589	genome.wustl.edu	37	19	12256735	12256735	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:12256735C>T	ENST00000355738.1	-	4	647	c.298G>A	c.(298-300)Gag>Aag	p.E100K	ZNF625_ENST00000542938.1_Missense_Mutation_p.E100K|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.E166K			Q96I27	ZN625_HUMAN	zinc finger protein 625	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CCACATTCCTCACAATCATAA	0.428																																						dbGAP											0													138.0	126.0	130.0					19																	12256735		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.298G>A	19.37:g.12256735C>T	ENSP00000347977:p.Glu100Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU45|I3L0E9	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.E166K	ENST00000355738.1	37	c.496		19	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713841	0.15306	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.16597	2.33;2.33;2.33	0.856	-0.284	0.12870	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	N	0.20304	0.555	0.09310	N	0.999998	B;B	0.12013	0.003;0.005	B;B	0.10450	0.003;0.005	T	0.39961	-0.9588	9	0.02654	T	1	.	1.3997	0.02268	0.3352:0.2975:0.0:0.3673	.	100;100	A8K8U0;Q96I27	.;ZN625_HUMAN	K	100;100;166	ENSP00000438436:E100K;ENSP00000347977:E100K;ENSP00000394380:E166K	ENSP00000347977:E100K	E	-	1	0	AC022415.5	12117735	0.000000	0.05858	0.063000	0.19743	0.926000	0.56050	-3.106000	0.00602	-0.132000	0.11557	0.313000	0.20887	GAG	ZNF625	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257591		0.428	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	Clone_based_vega_gene	protein_coding		229	0.00	0	C	NM_145233		12256735	12256735	-1	no_errors	ENST00000439556	ensembl	human	known	69_37n	missense	118	14.49	20	SNP	0.467	T
ZNF628	89887	genome.wustl.edu	37	19	55995407	55995407	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:55995407C>T	ENST00000598519.1	+	3	3400	c.2847C>T	c.(2845-2847)ctC>ctT	p.L949L	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.L945L|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	949					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGACTCGACTCTGCGTACAGG	0.637																																						dbGAP											0													47.0	29.0	36.0					19																	55995407		2199	4296	6495	-	-	-	SO:0001819	synonymous_variant	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2847C>T	19.37:g.55995407C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X34	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L945	ENST00000598519.1	37	c.2835	CCDS33116.3	19																																																																																			ZNF628	-	NULL	ENSG00000197483		0.637	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	24	0.00	0	C	XM_058964		55995407	55995407	+1	no_errors	ENST00000391718	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.792	T
ZFP69B	65243	genome.wustl.edu	37	1	40929122	40929122	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr1:40929122C>T	ENST00000411995.2	+	6	1841	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.S387F|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	489					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)										CATGATTCATCCTTTGCTAAA	0.388																																						dbGAP											0													79.0	77.0	78.0					1																	40929122		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1466C>T	1.37:g.40929122C>T	ENSP00000399664:p.Ser489Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S489F	ENST00000411995.2	37	c.1466	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630975	0.28978	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.61510	0.1;0.1	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63082	0.2481	L	0.47016	1.485	0.24176	N	0.995602	D	0.67145	0.996	P	0.57548	0.823	T	0.52540	-0.8562	9	0.32370	T	0.25	.	12.9325	0.58294	0.0:1.0:0.0:0.0	.	489	Q9UJL9	ZN643_HUMAN	F	420;489;387	ENSP00000399664:S489F;ENSP00000354547:S387F	ENSP00000354547:S387F	S	+	2	0	ZNF643	40701709	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-0.376000	0.07465	2.158000	0.67659	0.655000	0.94253	TCC	ZNF643	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187801		0.388	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF643	HGNC	protein_coding	OTTHUMT00000019078.2	177	0.00	0	C	NM_023070		40929122	40929122	+1	no_errors	ENST00000411995	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	0.994	T
ZNF646	9726	genome.wustl.edu	37	16	31091915	31091915	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:31091915G>A	ENST00000394979.2	+	1	4693	c.4270G>A	c.(4270-4272)Gag>Aag	p.E1424K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1424K			O15015	ZN646_HUMAN	zinc finger protein 646	1424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGTGGTGCTGAGCCAGTACC	0.642																																						dbGAP											0													42.0	44.0	43.0					16																	31091915		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4270G>A	16.37:g.31091915G>A	ENSP00000378429:p.Glu1424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1424K	ENST00000394979.2	37	c.4270		16	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013564	0.35511	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08102	3.13;3.16	4.71	4.71	0.59529	.	.	.	.	.	T	0.15912	0.0383	L	0.29908	0.895	0.22961	N	0.998501	D	0.71674	0.998	D	0.73380	0.98	T	0.19582	-1.0301	9	0.09338	T	0.73	-19.4173	15.1941	0.73071	0.0:0.0:1.0:0.0	.	1424	O15015-2	.	K	1424	ENSP00000300850:E1424K;ENSP00000378429:E1424K	ENSP00000300850:E1424K	E	+	1	0	ZNF646	30999416	0.058000	0.20735	0.549000	0.28204	0.072000	0.16883	1.565000	0.36386	2.456000	0.83038	0.655000	0.94253	GAG	ZNF646	-	NULL	ENSG00000167395		0.642	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	71	0.00	0	G	NM_014699		31091915	31091915	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.402	A
ZNF667	63934	genome.wustl.edu	37	19	56953810	56953810	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:56953810G>A	ENST00000504904.3	-	7	1273	c.554C>T	c.(553-555)tCa>tTa	p.S185L	ZNF667_ENST00000342634.3_Missense_Mutation_p.S313L|ZNF667_ENST00000292069.6_Missense_Mutation_p.S185L|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAGGATGGATGAGATCTGTCT	0.373																																						dbGAP											0													124.0	128.0	127.0					19																	56953810		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.554C>T	19.37:g.56953810G>A	ENSP00000439402:p.Ser185Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS6|B9EK36|Q6B093|Q9H807	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.S313L	ENST00000504904.3	37	c.938	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	G	3.780	-0.045903	0.07452	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.36520	1.25;1.25;1.25	4.98	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.442745	0.16884	N	0.195586	T	0.28466	0.0704	L	0.43701	1.375	0.09310	N	1	B;B	0.15473	0.013;0.005	B;B	0.10450	0.005;0.003	T	0.25047	-1.0143	10	0.87932	D	0	-2.3853	7.0499	0.25067	0.2138:0.0:0.7862:0.0	.	313;185	E7EPS0;Q5HYK9	.;ZN667_HUMAN	L	313;185;185;59	ENSP00000344699:S313L;ENSP00000439402:S185L;ENSP00000292069:S185L	ENSP00000292069:S185L	S	-	2	0	ZNF667	61645622	0.006000	0.16342	0.024000	0.17045	0.018000	0.09664	1.572000	0.36461	1.293000	0.44690	0.591000	0.81541	TCA	ZNF667	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198046		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	384	0.00	0	G	NM_022103		56953810	56953810	-1	no_errors	ENST00000342634	ensembl	human	known	69_37n	missense	238	10.19	27	SNP	0.000	A
ZNF704	619279	genome.wustl.edu	37	8	81553616	81553616	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr8:81553616C>G	ENST00000327835.3	-	9	1455	c.1224G>C	c.(1222-1224)caG>caC	p.Q408H		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	408							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CGAGGAACCTCTGGCAGGCCT	0.622																																						dbGAP											0													53.0	44.0	47.0					8																	81553616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1224G>C	8.37:g.81553616C>G	ENSP00000331462:p.Gln408His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE6|B9EGW6	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.Q408H	ENST00000327835.3	37	c.1224	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322285	0.81580	.	.	ENSG00000164684	ENST00000327835	T	0.37752	1.18	5.9	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.62793	-0.6779	10	0.87932	D	0	-22.75	10.5816	0.45259	0.0:0.8611:0.0:0.1389	.	408	Q6ZNC4	ZN704_HUMAN	H	408	ENSP00000331462:Q408H	ENSP00000331462:Q408H	Q	-	3	2	ZNF704	81716171	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.180000	0.42537	2.788000	0.95919	0.650000	0.86243	CAG	ZNF704	-	NULL	ENSG00000164684		0.622	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2	108	0.00	0	C	NM_001033723		81553616	81553616	-1	no_errors	ENST00000327835	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	G
ZNF710	374655	genome.wustl.edu	37	15	90610660	90610660	+	Silent	SNP	G	G	A			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr15:90610660G>A	ENST00000268154.4	+	2	542	c.291G>A	c.(289-291)cgG>cgA	p.R97R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACCCGGCGGAAGACGCGGC	0.642																																						dbGAP											0													60.0	57.0	58.0					15																	90610660		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.291G>A	15.37:g.90610660G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R97	ENST00000268154.4	37	c.291	CCDS10358.1	15																																																																																			ZNF710	-	NULL	ENSG00000140548		0.642	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	129	0.00	0	G	NM_198526		90610660	90610660	+1	no_errors	ENST00000268154	ensembl	human	known	69_37n	silent	48	15.79	9	SNP	1.000	A
ZNF768	79724	genome.wustl.edu	37	16	30536321	30536321	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr16:30536321C>G	ENST00000380412.5	-	2	1315	c.1140G>C	c.(1138-1140)aaG>aaC	p.K380N	ZNF768_ENST00000562803.1_Missense_Mutation_p.K349N	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	380					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCTATAGCACTTGCCGCACT	0.647																																						dbGAP											0													45.0	43.0	44.0					16																	30536321		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1140G>C	16.37:g.30536321C>G	ENSP00000369777:p.Lys380Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K380N	ENST00000380412.5	37	c.1140	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496196	0.44352	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.13778	2.56	4.72	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000685	T	0.28632	0.0709	M	0.91090	3.175	0.38023	D	0.934908	D	0.64830	0.994	P	0.51550	0.673	T	0.15464	-1.0436	10	0.72032	D	0.01	-11.5454	4.5058	0.11887	0.1733:0.6246:0.0:0.2021	.	380	Q9H5H4	ZN768_HUMAN	N	380;293	ENSP00000369777:K380N	ENSP00000369777:K380N	K	-	3	2	ZNF768	30443822	.	.	1.000000	0.80357	0.707000	0.40811	.	.	0.491000	0.27793	-0.694000	0.03704	AAG	ZNF768	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169957		0.647	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	81	0.00	0	C	NM_024671		30536321	30536321	-1	no_errors	ENST00000380412	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	1.000	G
ZNF79	7633	genome.wustl.edu	37	9	130206951	130206951	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr9:130206951G>C	ENST00000342483.5	+	5	1378	c.972G>C	c.(970-972)caG>caC	p.Q324H	ZNF79_ENST00000543471.1_Missense_Mutation_p.Q300H	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CGAACCATCAGAGGACTCACA	0.557																																						dbGAP											0													114.0	104.0	108.0					9																	130206951		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.972G>C	9.37:g.130206951G>C	ENSP00000362446:p.Gln324His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVW1|Q96NV1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q324H	ENST00000342483.5	37	c.972	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682183	0.29872	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.07567	3.18;3.18	3.83	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	L	0.54908	1.71	0.35152	D	0.769857	B	0.28258	0.205	B	0.17098	0.017	T	0.16928	-1.0386	9	0.49607	T	0.09	.	3.345	0.07132	0.2899:0.2156:0.4945:0.0	.	324	Q15937	ZNF79_HUMAN	H	324;300	ENSP00000362446:Q324H;ENSP00000438418:Q300H	ENSP00000362446:Q324H	Q	+	3	2	ZNF79	129246772	0.000000	0.05858	0.995000	0.50966	0.515000	0.34225	-0.034000	0.12225	0.665000	0.31066	0.655000	0.94253	CAG	ZNF79	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196152		0.557	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	184	0.00	0	G	NM_007135		130206951	130206951	+1	no_errors	ENST00000342483	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	0.994	C
ZSWIM4	65249	genome.wustl.edu	37	19	13928148	13928148	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr19:13928148G>C	ENST00000254323.2	+	7	1488	c.1299G>C	c.(1297-1299)gaG>gaC	p.E433D	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E267D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	433							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGGAGGAGGAGACACTTACCC	0.637																																						dbGAP											0													66.0	63.0	64.0					19																	13928148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1299G>C	19.37:g.13928148G>C	ENSP00000254323:p.Glu433Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E433D	ENST00000254323.2	37	c.1299	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888508	0.17540	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.45276	0.92;0.9	4.57	-0.434	0.12283	.	0.206481	0.30959	N	0.008523	T	0.14141	0.0342	N	0.08118	0	0.29030	N	0.885767	B;B	0.34290	0.447;0.002	B;B	0.30572	0.117;0.012	T	0.17410	-1.0370	10	0.14252	T	0.57	-13.7334	2.9388	0.05823	0.1702:0.1384:0.5492:0.1422	.	267;433	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	D	433;267	ENSP00000254323:E433D;ENSP00000405278:E267D	ENSP00000254323:E433D	E	+	3	2	ZSWIM4	13789148	0.133000	0.22466	0.828000	0.32881	0.854000	0.48673	0.206000	0.17375	0.028000	0.15324	0.400000	0.26472	GAG	ZSWIM4	-	NULL	ENSG00000132003		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	53	0.00	0	G	XM_031342		13928148	13928148	+1	no_errors	ENST00000254323	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.539	C
ZW10	9183	genome.wustl.edu	37	11	113644308	113644308	+	Silent	SNP	C	C	T			TCGA-AO-A03M-01B-11D-A10M-09	TCGA-AO-A03M-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e641d5f2-b91b-45d8-94a6-73c965c90e0c	8a65e562-4ed9-4ae2-8bd2-446bca056f48	g.chr11:113644308C>T	ENST00000200135.3	-	1	225	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	27	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CCCGCCGGGTCAGGCGGCTGA	0.622																																						dbGAP											0													58.0	63.0	62.0					11																	113644308		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.81G>A	11.37:g.113644308C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A528	Silent	SNP	pfam_RZZ-complex_Zw10	p.L27	ENST00000200135.3	37	c.81	CCDS8363.1	11																																																																																			ZW10	-	pfam_RZZ-complex_Zw10	ENSG00000086827		0.622	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	99	0.00	0	C	NM_004724		113644308	113644308	-1	no_errors	ENST00000200135	ensembl	human	known	69_37n	silent	55	11.29	7	SNP	1.000	T
