#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
AADACL2	344752	genome.wustl.edu	37	3	151474795	151474795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:151474795delG	ENST00000356517.3	+	5	728	c.619delG	c.(619-621)gaafs	p.E207fs	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	207						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAATGATGCTGAAATAAAACA	0.318																																						dbGAP											0													63.0	64.0	64.0					3																	151474795		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.619delG	3.37:g.151474795delG	ENSP00000348911:p.Glu207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYJ4	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.E207fs	ENST00000356517.3	37	c.619	CCDS3161.2	3																																																																																			AADACL2	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	ENSG00000197953		0.318	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3	238	0.00	0	G	NM_207365		151474795	151474795	+1	no_errors	ENST00000356517	ensembl	human	known	69_37n	frame_shift_del	252	26.18	94	DEL	0.192	-
ABCB1	5243	genome.wustl.edu	37	7	87225097	87225097	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:87225097G>A	ENST00000265724.3	-	4	519	c.102C>T	c.(100-102)gtC>gtT	p.V34V	ABCB1_ENST00000543898.1_Silent_p.V34V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	34					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)	AAAATACACTGACAGTTGGTT	0.269																																						dbGAP											0													64.0	67.0	66.0					7																	87225097		2199	4290	6489	-	-	-	SO:0001819	synonymous_variant	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.102C>T	7.37:g.87225097G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Silent	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.V34	ENST00000265724.3	37	c.102	CCDS5608.1	7																																																																																			ABCB1	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000085563		0.269	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	248	0.00	0	G	NM_000927		87225097	87225097	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	167	22.58	49	SNP	0.993	A
ABCC4	10257	genome.wustl.edu	37	13	95899945	95899945	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr13:95899945G>A	ENST00000376887.4	-	2	251	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ABCC4_ENST00000431522.1_Missense_Mutation_p.S46L|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.S46L|ABCC4_ENST00000536256.1_Missense_Mutation_p.S46L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	46					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGGCAGCACTGAATACATATC	0.453																																						dbGAP											0													186.0	149.0	162.0					13																	95899945		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.137C>T	13.37:g.95899945G>A	ENSP00000366084:p.Ser46Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.S46L	ENST00000376887.4	37	c.137	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310695	0.40895	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.66	5.66	0.87406	.	0.784550	0.11801	N	0.528169	T	0.46308	0.1386	L	0.57536	1.79	0.18873	N	0.999989	B;B;B;B;B	0.27625	0.183;0.01;0.005;0.005;0.003	B;B;B;B;B	0.25140	0.058;0.009;0.012;0.009;0.009	T	0.35624	-0.9781	10	0.40728	T	0.16	.	12.6025	0.56504	0.0:0.0:0.7273:0.2727	.	46;46;46;46;46	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	L	46	ENSP00000388657:S46L;ENSP00000366084:S46L;ENSP00000442024:S46L;ENSP00000398562:S46L	ENSP00000366084:S46L	S	-	2	0	ABCC4	94697946	0.794000	0.28838	0.912000	0.35992	0.569000	0.35902	4.135000	0.57997	2.649000	0.89929	0.557000	0.71058	TCA	ABCC4	-	NULL	ENSG00000125257		0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	113	0.00	0	G	NM_005845		95899945	95899945	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	93	41.61	67	SNP	0.298	A
ABR	29	genome.wustl.edu	37	17	959301	959301	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:959301G>A	ENST00000302538.5	-	14	1681	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	ABR_ENST00000573895.1_5'UTR|ABR_ENST00000544583.2_Missense_Mutation_p.S466F|ABR_ENST00000536794.2_Missense_Mutation_p.S294F|ABR_ENST00000574437.1_Missense_Mutation_p.S466F|ABR_ENST00000291107.2_Missense_Mutation_p.S475F	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	512	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCCTTGGCAGAGTGGACGAT	0.582											OREG0024067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													123.0	94.0	104.0					17																	959301		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1535C>T	17.37:g.959301G>A	ENSP00000303909:p.Ser512Phe	Somatic	592	WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,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.S512F	ENST00000302538.5	37	c.1535	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525307	0.85600	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.68	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.119688	0.64402	D	0.000019	T	0.68449	0.3002	M	0.73598	2.24	0.42321	D	0.99225	D;D;D	0.89917	1.0;0.983;1.0	D;P;D	0.83275	0.996;0.777;0.996	T	0.73795	-0.3870	10	0.87932	D	0	.	14.8484	0.70277	0.0:0.0:0.8551:0.1449	.	294;475;512	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	F	512;466;475;294	ENSP00000303909:S512F;ENSP00000442048:S466F;ENSP00000291107:S475F;ENSP00000437429:S294F	ENSP00000291107:S475F	S	-	2	0	ABR	906051	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	9.289000	0.96061	1.395000	0.46643	-0.318000	0.08688	TCT	ABR	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000159842		0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	53	0.00	0	G			959301	959301	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	1.000	A
AFF4	27125	genome.wustl.edu	37	5	132224807	132224807	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:132224807G>C	ENST00000265343.5	-	14	3075	c.2696C>G	c.(2695-2697)tCt>tGt	p.S899C		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	899	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGAGGCTTAGAAGAATCAAG	0.368																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0													87.0	95.0	92.0					5																	132224807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2696C>G	5.37:g.132224807G>C	ENSP00000265343:p.Ser899Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S899C	ENST00000265343.5	37	c.2696	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275190	0.59649	.	.	ENSG00000072364	ENST00000265343	T	0.67171	-0.25	5.71	4.85	0.62838	.	0.122006	0.56097	D	0.000022	T	0.76314	0.3970	M	0.66939	2.045	0.80722	D	1	D	0.54047	0.964	P	0.58780	0.845	T	0.78349	-0.2238	10	0.59425	D	0.04	-2.0482	12.9945	0.58638	0.0741:0.0:0.9259:0.0	.	899	Q9UHB7	AFF4_HUMAN	C	899	ENSP00000265343:S899C	ENSP00000265343:S899C	S	-	2	0	AFF4	132252706	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	4.513000	0.60476	1.440000	0.47531	-0.142000	0.14014	TCT	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.368	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	109	0.00	0	G	NM_014423		132224807	132224807	-1	no_errors	ENST00000265343	ensembl	human	known	69_37n	missense	173	26.69	63	SNP	0.998	C
ALDH3B1	221	genome.wustl.edu	37	11	67793545	67793545	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:67793545G>C	ENST00000539229.1	+	11	1295	c.1179G>C	c.(1177-1179)atG>atC	p.M393I	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.M393I|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.M357I|RP5-901A4.1_ENST00000532296.1_RNA	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	395					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										TCATGCACATGACCCTGGCCA	0.572																																						dbGAP											0													59.0	69.0	66.0					11																	67793545		2079	4208	6287	-	-	-	SO:0001583	missense	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1179G>C	11.37:g.67793545G>C	ENSP00000474034:p.Met393Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A3FMP9|Q53XL5|Q8N515|Q96CK8	RNA	SNP	-	NULL	ENST00000539229.1	37	NULL		11																																																																																			ALDH3B1	-	-	ENSG00000006534		0.572	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		12	0.00	0	G	NM_000694		67793545	67793545	+1	no_errors	ENST00000007633	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.034	C
ALKBH1	8846	genome.wustl.edu	37	14	78140379	78140379	+	Missense_Mutation	SNP	C	C	G	rs141233669		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:78140379C>G	ENST00000216489.3	-	6	961	c.946G>C	c.(946-948)Gat>Cat	p.D316H		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	316	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCATTGAATCTCTCGGGAGG	0.577																																						dbGAP											0													70.0	67.0	68.0					14																	78140379		2203	4300	6503	-	-	-	SO:0001583	missense	0			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.946G>C	14.37:g.78140379C>G	ENSP00000216489:p.Asp316His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	tigrfam_Alkb	p.D316H	ENST00000216489.3	37	c.946	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485229	0.44147	.	.	ENSG00000100601	ENST00000216489	T	0.32023	1.47	5.95	5.05	0.67936	Oxoglutarate/iron-dependent oxygenase (1);	0.441671	0.25529	N	0.030051	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	P	0.42161	0.772	P	0.52066	0.689	T	0.10730	-1.0617	10	0.46703	T	0.11	-12.7644	8.1717	0.31258	0.0:0.732:0.1301:0.1379	.	316	Q13686	ALKB1_HUMAN	H	316	ENSP00000216489:D316H	ENSP00000216489:D316H	D	-	1	0	ALKBH1	77210132	0.000000	0.05858	0.024000	0.17045	0.769000	0.43574	0.825000	0.27393	1.495000	0.48549	0.655000	0.94253	GAT	ALKBH1	-	NULL	ENSG00000100601		0.577	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	92	0.00	0	C	NM_006020		78140379	78140379	-1	no_errors	ENST00000216489	ensembl	human	known	69_37n	missense	156	24.15	50	SNP	0.001	G
AP3M1	26985	genome.wustl.edu	37	10	75889680	75889680	+	Silent	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:75889680G>C	ENST00000355264.4	-	5	965	c.654C>G	c.(652-654)ctC>ctG	p.L218L	AP3M1_ENST00000372745.1_Silent_p.L218L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	218	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AAGAAAGGGAGAGATCAGGCA	0.343																																						dbGAP											0													134.0	125.0	128.0					10																	75889680		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.654C>G	10.37:g.75889680G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQ12|Q9H5L2	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L218	ENST00000355264.4	37	c.654	CCDS7342.1	10																																																																																			AP3M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000185009		0.343	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	116	0.00	0	G			75889680	75889680	-1	no_errors	ENST00000355264	ensembl	human	known	69_37n	silent	112	23.29	34	SNP	0.998	C
ARAP1	116985	genome.wustl.edu	37	11	72410547	72410547	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:72410547C>G	ENST00000393609.3	-	17	2555	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	ARAP1_ENST00000359373.5_Missense_Mutation_p.E785Q|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.E479Q|ARAP1_ENST00000455638.2_Missense_Mutation_p.E785Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.E540Q|ARAP1_ENST00000334211.8_Missense_Mutation_p.E540Q|ARAP1_ENST00000393605.3_Missense_Mutation_p.E545Q	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	785	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCTCATTCTCAAAGTAGCTC	0.627																																					Ovarian(102;1198 1520 13195 17913 37529)	dbGAP											0													44.0	40.0	42.0					11																	72410547		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2353G>C	11.37:g.72410547C>G	ENSP00000377233:p.Glu785Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E785Q	ENST00000393609.3	37	c.2353	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.146756	0.94603	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.179175	0.49305	D	0.000156	D	0.85894	0.5803	M	0.77616	2.38	0.46241	D	0.998941	D;D;D;D;D	0.65815	0.967;0.967;0.995;0.993;0.959	P;P;P;D;P	0.65443	0.901;0.846;0.772;0.935;0.84	D	0.86574	0.1849	10	0.54805	T	0.06	.	17.9101	0.88931	0.0:1.0:0.0:0.0	.	540;479;785;785;545	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Q	785;785;545;540;785;540;479;73;73;574	ENSP00000352332:E785Q;ENSP00000390461:E785Q;ENSP00000377230:E545Q;ENSP00000335506:E540Q;ENSP00000377233:E785Q;ENSP00000392264:E540Q;ENSP00000403127:E479Q;ENSP00000411452:E73Q;ENSP00000399118:E73Q	ENSP00000335506:E540Q	E	-	1	0	ARAP1	72088195	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.385000	0.79763	2.568000	0.86640	0.462000	0.41574	GAG	ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000186635		0.627	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	17	0.00	0	C	NM_001040118		72410547	72410547	-1	no_errors	ENST00000393609	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	G
ARFIP1	27236	genome.wustl.edu	37	4	153802210	153802210	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:153802210G>C	ENST00000451320.2	+	6	671	c.507G>C	c.(505-507)aaG>aaC	p.K169N	ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000405727.2_Missense_Mutation_p.K137N|ARFIP1_ENST00000353617.2_Missense_Mutation_p.K169N|ARFIP1_ENST00000356064.3_Missense_Mutation_p.K137N|ARFIP1_ENST00000511289.1_3'UTR			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	169	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GGGATAACAAGAAAAAATATG	0.398																																						dbGAP											0													64.0	70.0	68.0					4																	153802210		2203	4299	6502	-	-	-	SO:0001583	missense	0			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.507G>C	4.37:g.153802210G>C	ENSP00000395083:p.Lys169Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.K169N	ENST00000451320.2	37	c.507	CCDS34080.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007823	0.75046	.	.	ENSG00000164144	ENST00000451320;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.2	5.2	0.72013	Arfaptin-like (3);	0.048042	0.85682	D	0.000000	D	0.84005	0.5377	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.957;0.991	D	0.84023	0.0355	10	0.54805	T	0.06	-14.4097	7.0833	0.25244	0.212:0.0:0.788:0.0	.	137;169	Q2M2X4;P53367	.;ARFP1_HUMAN	N	169;169;137;137	ENSP00000395083:K169N;ENSP00000296557:K169N;ENSP00000384189:K137N;ENSP00000348360:K137N	ENSP00000296557:K169N	K	+	3	2	ARFIP1	154021660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.276000	0.65580	2.593000	0.87608	0.655000	0.94253	AAG	ARFIP1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	ENSG00000164144		0.398	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1	196	0.00	0	G	NM_014447		153802210	153802210	+1	no_errors	ENST00000353617	ensembl	human	known	69_37n	missense	142	35.87	80	SNP	1.000	C
ATP1A4	480	genome.wustl.edu	37	1	160156095	160156095	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:160156095A>G	ENST00000368081.4	+	21	3470	c.2999A>G	c.(2998-3000)tAc>tGc	p.Y1000C	ATP1A4_ENST00000470705.1_Missense_Mutation_p.Y136C	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1000				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCATTCCCTACAGTATTCTC	0.552																																						dbGAP											0													272.0	267.0	269.0					1																	160156095		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2999A>G	1.37:g.160156095A>G	ENSP00000357060:p.Tyr1000Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.Y1000C	ENST00000368081.4	37	c.2999	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	a	17.21	3.330969	0.60853	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.95554	-3.74;-3.74	4.95	3.81	0.43845	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	L	0.55990	1.75	0.45284	D	0.998281	D	0.89917	1.0	D	0.83275	0.996	D	0.95248	0.8357	10	0.87932	D	0	.	9.406	0.38462	0.8408:0.0:0.0:0.1592	.	1000	Q13733	AT1A4_HUMAN	C	1000;136	ENSP00000357060:Y1000C;ENSP00000433094:Y136C	ENSP00000357060:Y1000C	Y	+	2	0	ATP1A4	158422719	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.815000	0.75242	0.903000	0.36546	0.364000	0.22116	TAC	ATP1A4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000132681		0.552	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	374	0.00	0	A	NM_144699		160156095	160156095	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	458	24.84	152	SNP	1.000	G
ATP2B1	490	genome.wustl.edu	37	12	90003786	90003786	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:90003786C>T	ENST00000428670.3	-	15	2826	c.2370G>A	c.(2368-2370)caG>caA	p.Q790Q	ATP2B1_ENST00000359142.3_Silent_p.Q790Q|ATP2B1_ENST00000261173.2_Silent_p.Q790Q|ATP2B1_ENST00000348959.3_Silent_p.Q790Q|ATP2B1_ENST00000393164.2_Silent_p.Q533Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	790					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						CAGCTACAACCTGGCGTTGGT	0.343																																						dbGAP											0													130.0	117.0	121.0					12																	90003786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2370G>A	12.37:g.90003786C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	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.Q790	ENST00000428670.3	37	c.2370	CCDS9035.1	12																																																																																			ATP2B1	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000070961		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	318	0.00	0	C	NM_001682		90003786	90003786	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	silent	340	28.57	136	SNP	1.000	T
ATP6V1B1	525	genome.wustl.edu	37	2	71186192	71186192	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:71186192G>A	ENST00000234396.4	+	5	485	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V138M	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	138					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAAGGGGCCAGTGGTCATGGC	0.577																																						dbGAP											0													115.0	100.0	105.0					2																	71186192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.412G>A	2.37:g.71186192G>A	ENSP00000234396:p.Val138Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FY0|Q6P4H6	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.V138M	ENST00000234396.4	37	c.412	CCDS1912.1	2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524005	0.27299	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446;ENST00000432098	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.32	2.47	0.30058	.	1.007560	0.07982	N	0.985705	T	0.67382	0.2887	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.14023	0.01;0.003;0.002	T	0.56517	-0.7966	10	0.51188	T	0.08	-9.4632	4.7341	0.12979	0.1904:0.1874:0.6222:0.0	.	113;138;138	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	M	138;113;138;155;18	ENSP00000234396:V138M;ENSP00000388353:V138M;ENSP00000408361:V155M;ENSP00000387599:V18M	ENSP00000234396:V138M	V	+	1	0	ATP6V1B1	71039700	0.000000	0.05858	0.974000	0.42286	0.924000	0.55760	-0.278000	0.08490	1.046000	0.40249	-0.133000	0.14855	GTG	ATP6V1B1	-	tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.577	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	33	0.00	0	G	NM_001692		71186192	71186192	+1	no_errors	ENST00000234396	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	0.053	A
BAAT	570	genome.wustl.edu	37	9	104133644	104133644	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:104133644C>T	ENST00000395051.3	-	1	113	c.43G>A	c.(43-45)Gag>Aag	p.E15K	BAAT_ENST00000259407.2_Missense_Mutation_p.E15K			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	15					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)	TGCACTGGCTCATCAACAAGT	0.443																																						dbGAP											0													76.0	69.0	71.0					9																	104133644		2203	4300	6503	-	-	-	SO:0001583	missense	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.43G>A	9.37:g.104133644C>T	ENSP00000378491:p.Glu15Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.E15K	ENST00000395051.3	37	c.43	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083233	0.76642	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.73469	-0.75;-0.75	4.41	4.41	0.53225	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.091723	0.45126	D	0.000384	D	0.86690	0.5993	M	0.89534	3.04	0.46241	D	0.998945	D	0.58970	0.984	P	0.61070	0.883	D	0.89777	0.3958	10	0.87932	D	0	-25.1647	14.5612	0.68136	0.0:1.0:0.0:0.0	.	15	Q14032	BAAT_HUMAN	K	15	ENSP00000259407:E15K;ENSP00000378491:E15K	ENSP00000259407:E15K	E	-	1	0	BAAT	103173465	0.003000	0.15002	1.000000	0.80357	0.932000	0.56968	0.798000	0.27014	2.262000	0.75019	0.655000	0.94253	GAG	BAAT	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.443	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	204	0.49	1	C			104133644	104133644	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	missense	206	25.09	69	SNP	1.000	T
BAK1	578	genome.wustl.edu	37	6	33541599	33541599	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:33541599C>T	ENST00000374467.3	-	6	865	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	BAK1_ENST00000360661.5_Missense_Mutation_p.R206Q|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	206					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GAAGAATCTTCGTACCACAAA	0.557																																						dbGAP											0													51.0	50.0	50.0					6																	33541599		2203	4298	6501	-	-	-	SO:0001583	missense	0			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.617G>A	6.37:g.33541599C>T	ENSP00000363591:p.Arg206Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.R206Q	ENST00000374467.3	37	c.617	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881938	0.72294	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.06068	3.35;3.35	4.5	3.62	0.41486	.	0.288486	0.25411	N	0.030871	T	0.01870	0.0059	N	0.17082	0.46	0.80722	D	1	D	0.58268	0.982	B	0.43889	0.435	T	0.60271	-0.7296	10	0.37606	T	0.19	-3.5251	8.8098	0.34961	0.0:0.8919:0.0:0.1081	.	206	Q16611	BAK_HUMAN	Q	186;206;206	ENSP00000363591:R206Q;ENSP00000353878:R206Q	ENSP00000353878:R206Q	R	-	2	0	BAK1	33649577	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.497000	0.53295	1.098000	0.41479	0.585000	0.79938	CGA	BAK1	-	NULL	ENSG00000030110		0.557	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	48	0.00	0	C	NM_001188		33541599	33541599	-1	no_errors	ENST00000360661	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	T
BCCIP	56647	genome.wustl.edu	37	10	127519144	127519144	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:127519144C>T	ENST00000278100.6	+	4	347	c.335C>T	c.(334-336)tCa>tTa	p.S112L	BCCIP_ENST00000299130.3_Missense_Mutation_p.S112L|BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000478798.1_3'UTR	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	112	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACGGATGTTTCAGAAGACAGC	0.313																																						dbGAP											0													144.0	143.0	143.0					10																	127519144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.335C>T	10.37:g.127519144C>T	ENSP00000278100:p.Ser112Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	NULL	p.S112L	ENST00000278100.6	37	c.335	CCDS7651.1	10	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378305	0.24944	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000392718	T;T;T	0.47528	0.88;0.87;0.84	5.36	5.36	0.76844	.	0.238662	0.43110	D	0.000613	T	0.38904	0.1058	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.29188	0.048;0.148;0.236;0.024	B;B;B;B	0.24155	0.051;0.03;0.048;0.016	T	0.29305	-1.0016	10	0.30854	T	0.27	-5.1645	6.9225	0.24395	0.2876:0.6304:0.0:0.082	.	112;112;112;112	B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;BCCIP_HUMAN	L	112	ENSP00000278100:S112L;ENSP00000299130:S112L;ENSP00000357748:S112L	ENSP00000278100:S112L	S	+	2	0	BCCIP	127509134	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.484000	0.53201	2.533000	0.85409	0.585000	0.79938	TCA	BCCIP	-	NULL	ENSG00000107949		0.313	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1	221	0.00	0	C			127519144	127519144	+1	no_errors	ENST00000368759	ensembl	human	known	69_37n	missense	205	21.76	57	SNP	1.000	T
BCKDHA	593	genome.wustl.edu	37	19	41928172	41928172	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:41928172C>A	ENST00000269980.2	+	6	1118	c.750C>A	c.(748-750)ttC>ttA	p.F250L	BCKDHA_ENST00000595085.1_Missense_Mutation_p.F284L|BCKDHA_ENST00000535632.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.F284L|BCKDHA_ENST00000457836.2_Missense_Mutation_p.F228L	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	250					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ATGCCGGCTTCAACTTCGCTG	0.632																																						dbGAP											0													99.0	86.0	90.0					19																	41928172		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.750C>A	19.37:g.41928172C>A	ENSP00000269980:p.Phe250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.F250L	ENST00000269980.2	37	c.750	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080201	0.20309	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	4.77	4.77	0.60923	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	N	0.11870	0.19	0.80722	D	1	B;B;B;B	0.28933	0.084;0.02;0.228;0.016	B;B;B;B	0.34590	0.174;0.013;0.186;0.007	D	0.91909	0.5538	10	0.02654	T	1	-34.4907	16.7129	0.85389	0.0:1.0:0.0:0.0	.	228;250;250;284	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	L	284;250;221;228;250	ENSP00000443246:F284L;ENSP00000269980:F250L;ENSP00000440345:F221L;ENSP00000416000:F228L	ENSP00000269980:F250L	F	+	3	2	BCKDHA;CTC-435M10.3	46620012	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.153000	0.58118	2.483000	0.83821	0.563000	0.77884	TTC	BCKDHA	-	pfam_DH_E1,pfam_Transketolase_N	ENSG00000248098		0.632	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	22	0.00	0	C	NM_000709		41928172	41928172	+1	no_errors	ENST00000269980	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
BLNK	29760	genome.wustl.edu	37	10	97951825	97951825	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:97951825G>A	ENST00000224337.5	-	17	1416	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	BLNK_ENST00000413476.2_Silent_p.I373I|BLNK_ENST00000427367.2_Silent_p.I390I|BLNK_ENST00000371176.2_Silent_p.I402I	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	425	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GATTCCTGATGATTTCAGCAA	0.368																																						dbGAP											0													190.0	177.0	181.0					10																	97951825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1275C>T	10.37:g.97951825G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.I425	ENST00000224337.5	37	c.1275	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101416	0.20632	.	.	ENSG00000095585	ENST00000393889	.	.	.	5.13	-3.63	0.04529	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56992	-0.7887	5	0.87932	D	0	-8.3737	2.2059	0.03935	0.1919:0.2007:0.4409:0.1665	.	.	.	.	L	151	.	ENSP00000377467:S151L	S	-	2	0	BLNK	97941815	0.995000	0.38212	0.982000	0.44146	0.996000	0.88848	0.242000	0.18087	-0.398000	0.07679	0.557000	0.71058	TCA	BLNK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000095585		0.368	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	217	0.00	0	G	NM_013314		97951825	97951825	-1	no_errors	ENST00000224337	ensembl	human	known	69_37n	silent	241	24.92	80	SNP	0.988	A
MCEMP1	199675	genome.wustl.edu	37	19	7743274	7743274	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:7743274G>C	ENST00000333598.3	+	4	815	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	C19orf59_ENST00000597445.1_Missense_Mutation_p.E78Q|TRAPPC5_ENST00000426877.2_5'Flank|TRAPPC5_ENST00000317378.5_5'Flank|CTD-3214H19.16_ENST00000597959.1_5'Flank|TRAPPC5_ENST00000596148.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		121						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CTTTAAAAGGGAGCTTTGGAA	0.572											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													175.0	174.0	175.0					19																	7743274		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000333598.3:c.361G>C	19.37:g.7743274G>C	ENSP00000329920:p.Glu121Gln	Somatic	644	WXS	Illumina GAIIx	Phase_IV	Q8IX20	Missense_Mutation	SNP	NULL	p.E121Q	ENST00000333598.3	37	c.361	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	G	7.423	0.637162	0.14386	.	.	ENSG00000183019	ENST00000333598	T	0.33216	1.42	3.34	2.25	0.28309	.	0.172813	0.27705	N	0.018199	T	0.19005	0.0456	L	0.32530	0.975	0.09310	N	1	P	0.40909	0.732	B	0.34779	0.189	T	0.11203	-1.0597	10	0.51188	T	0.08	-8.6405	8.4247	0.32723	0.0:0.2415:0.7585:0.0	.	121	Q8IX19	MCEM1_HUMAN	Q	121	ENSP00000329920:E121Q	ENSP00000329920:E121Q	E	+	1	0	C19orf59	7649274	0.157000	0.22836	0.068000	0.19968	0.012000	0.07955	1.418000	0.34782	0.931000	0.37242	0.655000	0.94253	GAG	C19orf59	-	NULL	ENSG00000183019		0.572	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	HGNC	protein_coding	OTTHUMT00000461248.1	194	0.00	0	G			7743274	7743274	+1	no_errors	ENST00000333598	ensembl	human	known	69_37n	missense	106	15.20	19	SNP	0.084	C
C20orf194	25943	genome.wustl.edu	37	20	3275242	3275242	+	Silent	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:3275242C>G	ENST00000252032.9	-	24	2119	c.2052G>C	c.(2050-2052)ctG>ctC	p.L684L	C20orf194_ENST00000498079.1_5'Flank|C20orf194_ENST00000453730.2_Silent_p.L422L	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	684										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGGCTGGCTCAGGGCACTGA	0.468																																						dbGAP											0													57.0	56.0	56.0					20																	3275242		1870	4106	5976	-	-	-	SO:0001819	synonymous_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2052G>C	20.37:g.3275242C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	NULL	p.L684	ENST00000252032.9	37	c.2052	CCDS42851.1	20																																																																																			C20orf194	-	NULL	ENSG00000088854		0.468	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	76	0.00	0	C	NM_001009984		3275242	3275242	-1	no_errors	ENST00000252032	ensembl	human	known	69_37n	silent	80	32.77	39	SNP	1.000	G
LINC00696	100128378	genome.wustl.edu	37	3	52097254	52097254	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:52097254G>A	ENST00000541313.1	-	1	313	c.314C>T	c.(313-315)aCa>aTa	p.T105I				Q6ZRV3	CC074_HUMAN	long intergenic non-protein coding RNA 696	105																	ACAGGCAGCTGTGCATGCCCA	0.562																																						dbGAP											0													242.0	228.0	232.0					3																	52097254		876	1991	2867	-	-	-	SO:0001583	missense	0			AK127958		3p21.1	2013-01-16	2012-11-20	2012-11-20				"""Long non-coding RNAs"""	34426	non-coding RNA	RNA, long non-coding			"""chromosome 3 open reading frame 74"""	C3orf74			Standard	NR_027331		Approved		uc010hmb.2	Q6ZRV3		ENST00000541313.1:c.314C>T	3.37:g.52097254G>A	ENSP00000437714:p.Thr105Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T105I	ENST00000541313.1	37	c.314		3	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610894	0.03690	.	.	ENSG00000256097	ENST00000541313	.	.	.	1.41	-2.82	0.05787	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37009	-0.9724	5	0.87932	D	0	.	3.1802	0.06582	0.3519:0.2335:0.4147:0.0	.	.	.	.	I	105	.	ENSP00000437714:T105I	T	-	2	0	C3orf74	52072294	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.556000	0.05992	-1.128000	0.02922	-0.345000	0.07892	ACA	C3orf74	-	NULL	ENSG00000256097		0.562	LINC00696-201	KNOWN	basic|appris_principal	protein_coding	C3orf74	HGNC	protein_coding		99	0.00	0	G	NR_027331		52097254	52097254	-1	no_errors	ENST00000541313	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	0.000	A
CACNA1C	775	genome.wustl.edu	37	12	2743501	2743501	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:2743501G>T	ENST00000347598.4	+	32	4011	c.4011G>T	c.(4009-4011)ttG>ttT	p.L1337F	CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1314F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1309F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1289F|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L1289F|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1317F|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1317F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1337					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACGCCTTGATTGTTGTGG	0.473																																						dbGAP											0													87.0	80.0	82.0					12																	2743501		1979	4153	6132	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4011G>T	12.37:g.2743501G>T	ENSP00000266376:p.Leu1337Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L1289F	ENST00000347598.4	37	c.3867	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045462	0.75846	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000399634;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	5.45	5.45	0.79879	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98741	0.9577	L	0.47078	1.49	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;1.0;0.99;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.99	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.997;0.997;0.999;0.999;0.948;0.997;0.993;0.999;0.986;0.999;0.999;0.999;0.999;0.948	D	0.99926	1.1284	10	0.87932	D	0	.	19.2805	0.94051	0.0:0.0:1.0:0.0	.	1289;1337;1289;1317;1317;1309;1289;1260;1337;1289;1289;1289;1289;1289;1289;1289;1289	Q13936-14;Q13936;Q13936-33;Q13936-32;Q13936-31;Q13936-30;Q13936-23;Q13936-28;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	1314;1289;1317;1289;1289;1289;1289;1337;1309;1289;1289;1317;1289;1289;1289;1289;1130	ENSP00000336982:L1314F;ENSP00000382563:L1289F;ENSP00000382547:L1317F;ENSP00000382530:L1289F;ENSP00000382546:L1289F;ENSP00000382500:L1289F;ENSP00000382549:L1289F;ENSP00000266376:L1337F;ENSP00000382515:L1309F;ENSP00000382510:L1289F;ENSP00000341092:L1289F;ENSP00000382537:L1317F;ENSP00000329877:L1289F;ENSP00000382557:L1289F;ENSP00000382542:L1289F;ENSP00000382504:L1289F	ENSP00000323129:L1130F	L	+	3	2	CACNA1C	2613762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.283000	0.51701	2.565000	0.86533	0.655000	0.94253	TTG	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.473	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	33	0.00	0	G	NM_000719		2743501	2743501	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	T
CAPN6	827	genome.wustl.edu	37	X	110489936	110489936	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:110489936C>G	ENST00000324068.1	-	13	1962	c.1795G>C	c.(1795-1797)Gat>Cat	p.D599H	CAPN6_ENST00000541758.1_Missense_Mutation_p.D344H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	599	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGGTCAGCATCCAGAGTAACC	0.517																																						dbGAP											0													110.0	84.0	93.0					X																	110489936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1795G>C	X.37:g.110489936C>G	ENSP00000317214:p.Asp599His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D599H	ENST00000324068.1	37	c.1795	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719280	0.48728	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.73152	-0.72;-0.72	5.37	3.53	0.40419	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.485564	0.23002	N	0.053071	T	0.59609	0.2206	N	0.14661	0.345	0.31528	N	0.661591	P	0.49358	0.923	P	0.50049	0.629	T	0.64071	-0.6493	10	0.44086	T	0.13	.	9.3661	0.38226	0.0:0.7761:0.1408:0.0831	.	599	Q9Y6Q1	CAN6_HUMAN	H	599;344	ENSP00000317214:D599H;ENSP00000441736:D344H	ENSP00000317214:D599H	D	-	1	0	CAPN6	110376592	0.490000	0.26012	0.999000	0.59377	0.985000	0.73830	0.678000	0.25277	1.250000	0.43966	0.589000	0.80489	GAT	CAPN6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000077274		0.517	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	204	0.00	0	C			110489936	110489936	-1	no_errors	ENST00000324068	ensembl	human	known	69_37n	missense	263	30.24	114	SNP	0.986	G
CCDC117	150275	genome.wustl.edu	37	22	29177137	29177137	+	Silent	SNP	G	G	A	rs13057011	byFrequency	TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:29177137G>A	ENST00000249064.4	+	3	617	c.441G>A	c.(439-441)agG>agA	p.R147R	CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000448492.2_Silent_p.R129R|CCDC117_ENST00000443309.2_Silent_p.R15R	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	147			R -> S (in dbSNP:rs13057011).							breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TTGCCCGAAGGAAGCTTCAGG	0.413																																						dbGAP											0													94.0	80.0	85.0					22																	29177137		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.441G>A	22.37:g.29177137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Silent	SNP	NULL	p.R147	ENST00000249064.4	37	c.441	CCDS13846.1	22																																																																																			CCDC117	-	NULL	ENSG00000159873		0.413	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	HGNC	protein_coding	OTTHUMT00000321258.1	60	0.00	0	G	NM_173510		29177137	29177137	+1	no_errors	ENST00000249064	ensembl	human	known	69_37n	silent	71	32.38	34	SNP	0.997	A
CCDC137	339230	genome.wustl.edu	37	17	79634810	79634810	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:79634810G>C	ENST00000329214.8	+	2	589	c.186G>C	c.(184-186)gaG>gaC	p.E62D	OXLD1_ENST00000571503.1_5'Flank|OXLD1_ENST00000374741.3_5'Flank|OXLD1_ENST00000573786.1_5'Flank	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	62							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACGAACAGGAGATTCCTTTCC	0.517																																						dbGAP											0													51.0	55.0	54.0					17																	79634810		1864	4093	5957	-	-	-	SO:0001583	missense	0			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.186G>C	17.37:g.79634810G>C	ENSP00000329360:p.Glu62Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E62D	ENST00000329214.8	37	c.186	CCDS42400.1	17	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360413	0.24598	.	.	ENSG00000185298	ENST00000329214	D	0.90676	-2.71	4.26	0.893	0.19236	.	0.124272	0.56097	D	0.000032	D	0.93406	0.7897	M	0.77103	2.36	0.29809	N	0.831782	D	0.71674	0.998	D	0.68765	0.96	D	0.89026	0.3438	10	0.62326	D	0.03	-1.1706	8.9009	0.35495	0.4506:0.0:0.5494:0.0	.	62	Q6PK04	CC137_HUMAN	D	62	ENSP00000329360:E62D	ENSP00000329360:E62D	E	+	3	2	CCDC137	77245215	0.914000	0.31030	0.998000	0.56505	0.898000	0.52572	-0.046000	0.11983	-0.026000	0.13895	-0.471000	0.05019	GAG	CCDC137	-	NULL	ENSG00000185298		0.517	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC137	HGNC	protein_coding	OTTHUMT00000440387.1	8	0.00	0	G			79634810	79634810	+1	no_errors	ENST00000329214	ensembl	human	known	69_37n	missense	13	45.83	11	SNP	0.993	C
CCDC142	84865	genome.wustl.edu	37	2	74709786	74709786	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:74709786G>A	ENST00000393965.3	-	1	575	c.179C>T	c.(178-180)cCg>cTg	p.P60L	TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.P60L|CCDC142_ENST00000471713.1_Intron|TTC31_ENST00000442235.2_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	60										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CACATCCGCCGGCGTCGGCCA	0.721																																						dbGAP											0													33.0	33.0	33.0					2																	74709786		2165	4235	6400	-	-	-	SO:0001583	missense	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.179C>T	2.37:g.74709786G>A	ENSP00000377537:p.Pro60Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.P60L	ENST00000393965.3	37	c.179		2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857708	0.32791	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.09817	2.94;2.94	4.58	-2.48	0.06423	.	1.095370	0.07065	N	0.834486	T	0.07593	0.0191	L	0.44542	1.39	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.43245	-0.9403	9	.	.	.	-5.4437	1.2814	0.02041	0.1743:0.136:0.2737:0.416	.	60;60;60	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	L	60	ENSP00000377537:P60L;ENSP00000290418:P60L	.	P	-	2	0	CCDC142	74563294	0.013000	0.17824	0.000000	0.03702	0.026000	0.11368	0.941000	0.29005	-0.340000	0.08388	0.313000	0.20887	CCG	CCDC142	-	NULL	ENSG00000135637		0.721	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	25	0.00	0	G	NM_032779		74709786	74709786	-1	no_errors	ENST00000393965	ensembl	human	known	69_37n	missense	9	47.37	9	SNP	0.000	A
CCDC150	284992	genome.wustl.edu	37	2	197531552	197531552	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:197531552C>T	ENST00000389175.4	+	7	1007	c.872C>T	c.(871-873)tCa>tTa	p.S291L	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	291										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTGCTACTTCACAGCTCAAA	0.373																																						dbGAP											0													53.0	51.0	52.0					2																	197531552		1815	4081	5896	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.872C>T	2.37:g.197531552C>T	ENSP00000373827:p.Ser291Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.S291L	ENST00000389175.4	37	c.872	CCDS46478.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.453223|1.453223	0.26161|0.26161	.|.	.|.	ENSG00000144395|ENSG00000144395	ENST00000536389|ENST00000389175	.|T	.|0.30714	.|1.52	5.32|5.32	4.45|4.45	0.53987|0.53987	.|.	.|0.888452	.|0.09737	.|N	.|0.762367	T|T	0.29458|0.29458	0.0734|0.0734	L|L	0.51422|0.51422	1.61|1.61	0.18873|0.18873	N|N	0.999983|0.999983	.|B	.|0.09022	.|0.002	.|B	.|0.13407	.|0.009	T|T	0.18429|0.18429	-1.0337|-1.0337	6|10	0.52906|0.49607	T|T	0.07|0.09	-4.0924|-4.0924	8.0078|8.0078	0.30336|0.30336	0.0:0.8221:0.0:0.1779|0.0:0.8221:0.0:0.1779	.|.	.|291	.|Q8NCX0	.|CC150_HUMAN	Y|L	291|291	.|ENSP00000373827:S291L	ENSP00000437528:H291Y|ENSP00000373827:S291L	H|S	+|+	1|2	0|0	CCDC150|CCDC150	197239797|197239797	0.006000|0.006000	0.16342|0.16342	0.625000|0.625000	0.29200|0.29200	0.931000|0.931000	0.56810|0.56810	0.735000|0.735000	0.26115|0.26115	1.483000|1.483000	0.48342|0.48342	0.655000|0.655000	0.94253|0.94253	CAC|TCA	CCDC150	-	NULL	ENSG00000144395		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	143	0.00	0	C	NM_001080539		197531552	197531552	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	110	17.91	24	SNP	0.074	T
CCDC62	84660	genome.wustl.edu	37	12	123290727	123290727	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:123290727C>T	ENST00000253079.6	+	10	2080	c.1736C>T	c.(1735-1737)tCt>tTt	p.S579F	CCDC62_ENST00000537566.1_Missense_Mutation_p.S340F|CCDC62_ENST00000392440.2_Missense_Mutation_p.S340F|CCDC62_ENST00000392441.4_Missense_Mutation_p.S579F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	579					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GATTCCCACTCTTTGGGTTCT	0.358																																						dbGAP											0													90.0	91.0	91.0					12																	123290727		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1736C>T	12.37:g.123290727C>T	ENSP00000253079:p.Ser579Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.S579F	ENST00000253079.6	37	c.1736	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239922	0.58995	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.42	1.41	0.22369	.	0.284712	0.25484	N	0.030345	T	0.49847	0.1581	N	0.14661	0.345	0.09310	N	1	P;P;P	0.49559	0.925;0.924;0.681	P;P;B	0.48141	0.568;0.466;0.372	T	0.50268	-0.8848	10	0.66056	D	0.02	-3.2831	12.2596	0.54642	0.0:0.5422:0.4578:0.0	.	579;340;579	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	F	579;579;340;340	ENSP00000253079:S579F;ENSP00000376236:S579F;ENSP00000445045:S340F;ENSP00000376235:S340F	ENSP00000253079:S579F	S	+	2	0	CCDC62	121856680	0.009000	0.17119	0.007000	0.13788	0.642000	0.38348	0.950000	0.29122	0.177000	0.19895	-0.344000	0.07964	TCT	CCDC62	-	NULL	ENSG00000130783		0.358	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	165	0.00	0	C	NM_032573		123290727	123290727	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	198	34.65	105	SNP	0.010	T
CD1C	911	genome.wustl.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	A	rs145638725		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:158261127C>A	ENST00000368170.3	+	2	544	c.265C>A	c.(265-267)Cgt>Agt	p.R89S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398																																						dbGAP											1	Substitution - Missense(1)	skin(1)											111.0	108.0	109.0					1																	158261127		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.265C>A	1.37:g.158261127C>A	ENSP00000357152:p.Arg89Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Nonsense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S23*	ENST00000368170.3	37	c.68	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.694|8.694	0.908102|0.908102	0.17833|0.17833	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.07567|.	3.18|.	3.52|3.52	-3.21|-3.21	0.05140|0.05140	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.543957|.	0.14309|.	N|.	0.327809|.	T|.	0.32823|.	0.0842|.	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	B|.	0.33904|.	0.431|.	B|.	0.26614|.	0.071|.	T|.	0.47623|.	-0.9103|.	10|.	0.62326|.	D|.	0.03|.	.|.	9.3198|9.3198	0.37957|0.37957	0.0:0.2985:0.0:0.7015|0.0:0.2985:0.0:0.7015	.|.	89|.	P29017|.	CD1C_HUMAN|.	S|X	89|23	ENSP00000357152:R89S|.	ENSP00000357151:R89S|.	R|S	+|+	1|2	0|0	CD1C|CD1C	156527751|156527751	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.106000|-0.106000	0.10890|0.10890	-0.744000|-0.744000	0.04778|0.04778	-0.781000|-0.781000	0.03364|0.03364	CGT|TCG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	341	0.29	1	C	NM_001765		158261127	158261127	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443761	ensembl	human	novel	69_37n	nonsense	758	17.86	165	SNP	0.000	A
CECR2	27443	genome.wustl.edu	37	22	17978481	17978481	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:17978481G>A	ENST00000400573.5	+	4	386	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CECR2_ENST00000342247.5_Missense_Mutation_p.E107K|CECR2_ENST00000262608.8_Missense_Mutation_p.E108K|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	149					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCATTGGGTGAAGACAATTC	0.488																																						dbGAP											0													97.0	93.0	94.0					22																	17978481		1874	4112	5986	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.379G>A	22.37:g.17978481G>A	ENSP00000383417:p.Glu127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E127K	ENST00000400573.5	37	c.379		22	.	.	.	.	.	.	.	.	.	.	G	32	5.126550	0.94429	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.48522	0.81;0.81;0.81	6.01	6.01	0.97437	.	0.000000	0.36778	U	0.002403	T	0.59636	0.2208	L	0.43152	1.355	0.44409	D	0.997322	D	0.67145	0.996	P	0.61070	0.883	T	0.47005	-0.9150	10	0.24483	T	0.36	-13.6661	20.5141	0.99211	0.0:0.0:1.0:0.0	.	149	Q9BXF3	CECR2_HUMAN	K	107;127;108	ENSP00000341219:E107K;ENSP00000383417:E127K;ENSP00000262608:E108K	ENSP00000262608:E108K	E	+	1	0	CECR2	16358481	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	5.564000	0.67359	2.850000	0.98022	0.655000	0.94253	GAA	CECR2	-	NULL	ENSG00000099954		0.488	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316104.5	74	0.00	0	G	NM_031413		17978481	17978481	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	87	17.92	19	SNP	0.999	A
CGN	57530	genome.wustl.edu	37	1	151509346	151509346	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:151509346C>T	ENST00000271636.7	+	20	3580	c.3447C>T	c.(3445-3447)atC>atT	p.I1149I		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1143					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCCCGGATCAAGTCTCTGG	0.562																																						dbGAP											0													108.0	117.0	114.0					1																	151509346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3447C>T	1.37:g.151509346C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.I1149	ENST00000271636.7	37	c.3447	CCDS999.1	1																																																																																			CGN	-	pfam_Myosin_tail	ENSG00000143375		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	60	0.00	0	C	NM_020770		151509346	151509346	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	silent	81	23.58	25	SNP	1.000	T
CHL1	10752	genome.wustl.edu	37	3	423864	423864	+	Missense_Mutation	SNP	G	G	A	rs541454458		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:423864G>A	ENST00000256509.2	+	17	2521	c.1879G>A	c.(1879-1881)Gtt>Att	p.V627I	CHL1_ENST00000397491.2_Missense_Mutation_p.V611I|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTAATTAGATGTTCCGGATCC	0.468																																						dbGAP											0													84.0	88.0	87.0					3																	423864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1879G>A	3.37:g.423864G>A	ENSP00000256509:p.Val627Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	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.V627I	ENST00000256509.2	37	c.1879	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891234	0.52014	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.79554	-1.28;-1.28	5.22	3.41	0.39046	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.136603	0.48767	D	0.000164	T	0.82010	0.4944	M	0.72576	2.205	0.49483	D	0.999793	P;P;P	0.47409	0.629;0.629;0.895	B;B;P	0.51918	0.306;0.306;0.684	T	0.79825	-0.1640	10	0.54805	T	0.06	.	5.9838	0.19421	0.0726:0.136:0.6502:0.1412	.	611;611;627	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	627;611	ENSP00000256509:V627I;ENSP00000380628:V611I	ENSP00000256509:V627I	V	+	1	0	CHL1	398864	1.000000	0.71417	0.931000	0.37212	0.885000	0.51271	2.887000	0.48586	0.699000	0.31761	0.655000	0.94253	GTT	CHL1	-	superfamily_Fibronectin_type3	ENSG00000134121		0.468	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	216	0.00	0	G	NM_006614		423864	423864	+1	no_errors	ENST00000256509	ensembl	human	known	69_37n	missense	186	28.46	74	SNP	1.000	A
CHMP7	91782	genome.wustl.edu	37	8	23116332	23116332	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr8:23116332C>G	ENST00000397677.1	+	8	1696	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	CHMP7_ENST00000313219.7_Missense_Mutation_p.Q350E|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	350					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCTCGTGGATCAGATCCAAGA	0.502																																						dbGAP											0													48.0	45.0	46.0					8																	23116332		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1048C>G	8.37:g.23116332C>G	ENSP00000380794:p.Gln350Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	pfam_Snf7	p.Q350E	ENST00000397677.1	37	c.1048	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	C	17.23	3.338010	0.60963	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.63913	-0.07;-0.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.33093	0.98	0.80722	D	1	D;B	0.63046	0.992;0.053	D;B	0.76071	0.987;0.076	T	0.58092	-0.7697	10	0.02654	T	1	-19.4868	18.9918	0.92796	0.0:1.0:0.0:0.0	.	240;350	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	E	350	ENSP00000380794:Q350E;ENSP00000324491:Q350E	ENSP00000324491:Q350E	Q	+	1	0	CHMP7	23172277	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.293000	0.78740	2.837000	0.97791	0.655000	0.94253	CAG	CHMP7	-	pfam_Snf7	ENSG00000147457		0.502	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1	31	0.00	0	C	NM_152272		23116332	23116332	+1	no_errors	ENST00000313219	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	G
CKAP5	9793	genome.wustl.edu	37	11	46772688	46772688	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:46772688C>T	ENST00000529230.1	-	40	5486	c.5440G>A	c.(5440-5442)Gaa>Aaa	p.E1814K	MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.E1821K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1754K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1754K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1814				E -> A (in Ref. 1; CAA63212). {ECO:0000305}.	centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCTCCCTTTTCTGTTTCCTTA	0.488																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													163.0	143.0	150.0					11																	46772688		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5440G>A	11.37:g.46772688C>T	ENSP00000432768:p.Glu1814Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1821K	ENST00000529230.1	37	c.5461	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.165240|5.165240	0.94768|0.94768	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.47869|.	0.89;0.92;0.83;0.83|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70395|0.70395	0.3219|0.3219	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.996;0.998;0.997|.	P;D;D|.	0.78314|.	0.875;0.991;0.98|.	T|T	0.64605|0.64605	-0.6368|-0.6368	10|5	0.19147|.	T|.	0.46|.	-12.7929|-12.7929	20.1991|20.1991	0.98252|0.98252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1821;1754;1814|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	K|K	1814;1821;1754;1754|52	ENSP00000432768:E1814K;ENSP00000395302:E1821K;ENSP00000310227:E1754K;ENSP00000346566:E1754K|.	ENSP00000310227:E1754K|.	E|R	-|-	1|2	0|0	CKAP5|CKAP5	46729264|46729264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GAA|AGA	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.488	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	182	0.00	0	C	NM_014756		46772688	46772688	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	257	25.51	88	SNP	1.000	T
CLIC1	1192	genome.wustl.edu	37	6	31701957	31701957	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:31701957G>T	ENST00000375780.2	-	3	695	c.123C>A	c.(121-123)ttC>ttA	p.F41L	CLIC1_ENST00000375779.2_Missense_Mutation_p.F41L|CLIC1_ENST00000395892.1_Missense_Mutation_p.F41L|CLIC1_ENST00000375784.3_Missense_Mutation_p.F41L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	41	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGGTAACATTGAAGGTGACTC	0.517																																						dbGAP											0													126.0	95.0	105.0					6																	31701957		2203	4300	6503	-	-	-	SO:0001583	missense	0			U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.123C>A	6.37:g.31701957G>T	ENSP00000364935:p.Phe41Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15089|Q502X1	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.F41L	ENST00000375780.2	37	c.123	CCDS4719.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327641	0.81690	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.54	4.67	0.58626	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.32224	0.0822	M	0.66439	2.03	0.53688	D	0.999977	D	0.76494	0.999	D	0.85130	0.997	T	0.11591	-1.0581	10	0.34782	T	0.22	-18.3731	8.306	0.32042	0.1769:0.0:0.8231:0.0	.	41	O00299	CLIC1_HUMAN	L	41	ENSP00000364940:F41L;ENSP00000364934:F41L;ENSP00000364935:F41L;ENSP00000379229:F41L	ENSP00000364934:F41L	F	-	3	2	CLIC1	31809936	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.191000	0.42640	1.344000	0.45657	0.591000	0.81541	TTC	CLIC1	-	superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	ENSG00000213719		0.517	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC1	HGNC	protein_coding	OTTHUMT00000076167.3	58	0.00	0	G	NM_001288		31701957	31701957	-1	no_errors	ENST00000375779	ensembl	human	known	69_37n	missense	54	32.50	26	SNP	1.000	T
CNTNAP3B	728577	genome.wustl.edu	37	9	43822569	43822569	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:43822569C>T	ENST00000377564.3	+	8	1516	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	375	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGTGACTTTTCTGAGCTCCAG	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1123C>T	9.37:g.43822569C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	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.L375	ENST00000377564.3	37	c.1123	CCDS55312.1	9																																																																																			CNTNAP3B	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000154529		0.473	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	20	0.00	0	C			43822569	43822569	+1	no_errors	ENST00000377564	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	1.000	T
COL4A6	1288	genome.wustl.edu	37	X	107435807	107435807	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:107435807T>C	ENST00000372216.4	-	18	1179	c.1079A>G	c.(1078-1080)aAt>aGt	p.N360S	COL4A6_ENST00000545689.1_Missense_Mutation_p.N359S|COL4A6_ENST00000538570.1_Missense_Mutation_p.N359S|COL4A6_ENST00000394872.2_Missense_Mutation_p.N360S|COL4A6_ENST00000334504.7_Missense_Mutation_p.N359S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	360	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCTCCAGGATTACCTGGCAT	0.502									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													47.0	34.0	38.0					X																	107435807		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1079A>G	X.37:g.107435807T>C	ENSP00000361290:p.Asn360Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N360S	ENST00000372216.4	37	c.1079	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465967	0.26335	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	4.77	2.08	0.27032	.	0.708209	0.11671	N	0.540836	D	0.85080	0.5615	N	0.21282	0.65	0.23120	N	0.99827	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.70978	-0.4725	10	0.21014	T	0.42	.	5.3434	0.15996	0.151:0.0:0.3875:0.4615	.	359;359;360;359	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	360;359;360;359;359;359	ENSP00000361290:N360S;ENSP00000334733:N359S;ENSP00000378340:N360S;ENSP00000443707:N359S;ENSP00000445236:N359S	ENSP00000334733:N359S	N	-	2	0	COL4A6	107322463	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.744000	0.26245	0.697000	0.31718	0.425000	0.28330	AAT	COL4A6	-	pfam_Collagen	ENSG00000197565		0.502	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	30	0.00	0	T			107435807	107435807	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	19	28.57	8	SNP	1.000	C
COL6A3	1293	genome.wustl.edu	37	2	238280722	238280722	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:238280722C>A	ENST00000295550.4	-	9	4390	c.3938G>T	c.(3937-3939)gGc>gTc	p.G1313V	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1107V|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1107V|COL6A3_ENST00000472056.1_Missense_Mutation_p.G706V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1112V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1113V|COL6A3_ENST00000392003.2_Missense_Mutation_p.G906V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1107V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1313	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGGCATTGCCCACGTTGAT	0.617																																						dbGAP											0													58.0	52.0	54.0					2																	238280722		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3938G>T	2.37:g.238280722C>A	ENSP00000295550:p.Gly1313Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G1313V	ENST00000295550.4	37	c.3938	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893999	0.72639	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.84	5.84	0.93424	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000035	D	0.95557	0.8556	H	0.96833	3.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96414	0.9306	10	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	706;906;1107;1107;1313	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	V	1313;1112;1107;706;1107;1113;1107;906	ENSP00000295550:G1313V;ENSP00000315609:G1112V;ENSP00000315873:G1107V;ENSP00000418285:G706V;ENSP00000386844:G1107V;ENSP00000295546:G1113V;ENSP00000375861:G1107V;ENSP00000375860:G906V	ENSP00000295550:G1313V	G	-	2	0	COL6A3	237945461	1.000000	0.71417	0.167000	0.22817	0.288000	0.27193	7.755000	0.85180	2.765000	0.95021	0.655000	0.94253	GGC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	95	0.00	0	C	NM_004369		238280722	238280722	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	A
CPSF6	11052	genome.wustl.edu	37	12	69656161	69656161	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:69656161G>A	ENST00000435070.2	+	9	1588	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	CPSF6_ENST00000456847.3_Missense_Mutation_p.R420Q|CPSF6_ENST00000266679.8_Missense_Mutation_p.R530Q|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	493	Arg-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGACGTGAACGATCAAGAGAG	0.368																																						dbGAP											0													103.0	96.0	98.0					12																	69656161		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1478G>A	12.37:g.69656161G>A	ENSP00000391774:p.Arg493Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R530Q	ENST00000435070.2	37	c.1589	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896136	0.72639	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.72394	-0.65;-0.65;-0.65	5.74	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.67700	2.07	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.994	P;D;P	0.66847	0.776;0.947;0.885	T	0.80264	-0.1455	9	.	.	.	-7.6973	15.813	0.78578	0.0685:0.0:0.9315:0.0	.	242;530;493	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	Q	493;420;530	ENSP00000391774:R493Q;ENSP00000391437:R420Q;ENSP00000266679:R530Q	.	R	+	2	0	CPSF6	67942428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	CGA	CPSF6	-	NULL	ENSG00000111605		0.368	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	113	0.00	0	G	NM_007007		69656161	69656161	+1	no_errors	ENST00000266679	ensembl	human	known	69_37n	missense	150	18.03	33	SNP	1.000	A
CPXM1	56265	genome.wustl.edu	37	20	2776783	2776783	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:2776783C>G	ENST00000380605.2	-	10	1331	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	423					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCGGCCCTCGGCCCAGCCC	0.592																																						dbGAP											0													66.0	68.0	68.0					20																	2776783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1267G>C	20.37:g.2776783C>G	ENSP00000369979:p.Glu423Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom	p.E423Q	ENST00000380605.2	37	c.1267	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	9.216	1.032126	0.19590	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10763	2.84	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (2);	0.612520	0.18001	N	0.154900	T	0.12220	0.0297	N	0.16368	0.405	0.09310	N	0.999998	D;D	0.53885	0.963;0.963	P;P	0.54590	0.756;0.745	T	0.26430	-1.0103	10	0.20519	T	0.43	-33.3758	11.6208	0.51117	0.1771:0.8228:0.0:0.0	.	423;423	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Q	423;119	ENSP00000369979:E423Q	ENSP00000369979:E423Q	E	-	1	0	CPXM1	2724783	0.000000	0.05858	1.000000	0.80357	0.592000	0.36648	-1.234000	0.02931	2.825000	0.97269	0.655000	0.94253	GAG	CPXM1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000088882		0.592	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	72	0.00	0	C	NM_019609		2776783	2776783	-1	no_errors	ENST00000380605	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.243	G
CRYBG3	131544	genome.wustl.edu	37	3	97600022	97600022	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:97600022C>A	ENST00000182096.4	+	4	1331	c.1267C>A	c.(1267-1269)Caa>Aaa	p.Q423K		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2371							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAGGCATCCACAAAGAAACTT	0.333																																						dbGAP											0													86.0	87.0	87.0					3																	97600022		1819	4075	5894	-	-	-	SO:0001583	missense	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1267C>A	3.37:g.97600022C>A	ENSP00000182096:p.Gln423Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Q423K	ENST00000182096.4	37	c.1267		3	.	.	.	.	.	.	.	.	.	.	C	5.544	0.285232	0.10513	.	.	ENSG00000080200	ENST00000182096	T	0.73152	-0.72	4.89	2.92	0.33932	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.725012	0.12879	N	0.431591	T	0.61874	0.2382	M	0.62723	1.935	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.50750	-0.8791	10	0.07175	T	0.84	.	9.4336	0.38626	0.1543:0.6855:0.1602:0.0	.	423	Q68DQ2	CRBG3_HUMAN	K	423	ENSP00000182096:Q423K	ENSP00000182096:Q423K	Q	+	1	0	CRYBG3	99082712	0.995000	0.38212	0.983000	0.44433	0.875000	0.50365	1.668000	0.37481	1.152000	0.42452	0.650000	0.86243	CAA	CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000080200		0.333	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	150	0.00	0	C	NM_153605		97600022	97600022	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	missense	138	22.47	40	SNP	0.976	A
CUL4B	8450	genome.wustl.edu	37	X	119660675	119660675	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:119660675C>T	ENST00000404115.3	-	22	3084	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	CUL4B_ENST00000336592.6_Missense_Mutation_p.D882N|CUL4B_ENST00000371322.5_Missense_Mutation_p.D877N	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	895					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTCCCGGTCAATTAAAGAT	0.368																																						dbGAP											0													215.0	180.0	192.0					X																	119660675		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2683G>A	X.37:g.119660675C>T	ENSP00000384109:p.Asp895Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	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.D895N	ENST00000404115.3	37	c.2683	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379506	0.82682	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.69685	-0.42;-0.42;-0.42	5.66	5.66	0.87406	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.76727	2.345	0.80722	D	1	B;D;D	0.67145	0.414;0.996;0.995	B;D;D	0.69307	0.206;0.963;0.937	T	0.81752	-0.0789	9	.	.	.	-11.8763	17.6169	0.88070	0.0:1.0:0.0:0.0	.	699;895;877	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	N	877;882;895	ENSP00000360373:D877N;ENSP00000338919:D882N;ENSP00000384109:D895N	.	D	-	1	0	CUL4B	119544703	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.439000	0.80444	2.376000	0.81061	0.594000	0.82650	GAC	CUL4B	-	pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain	ENSG00000158290		0.368	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	222	0.00	0	C	NM_003588		119660675	119660675	-1	no_errors	ENST00000404115	ensembl	human	known	69_37n	missense	198	30.53	87	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155699069	155699069	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:155699069C>G	ENST00000368336.5	+	9	879	c.755C>G	c.(754-756)tCt>tGt	p.S252C	DAP3_ENST00000343043.3_Missense_Mutation_p.S252C|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.S218C|DAP3_ENST00000471642.2_Missense_Mutation_p.S211C|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.S211C	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	252					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)					AGGCAAAGTTCTTTGGGTATG	0.473																																						dbGAP											0													154.0	138.0	143.0					1																	155699069		2203	4300	6503	-	-	-	SO:0001583	missense	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.755C>G	1.37:g.155699069C>G	ENSP00000357320:p.Ser252Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.S252C	ENST00000368336.5	37	c.755	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935883	0.34189	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.64	4.72	0.59763	.	0.441327	0.27455	N	0.019286	T	0.19846	0.0477	N	0.25485	0.75	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.17098	0.017;0.017;0.017;0.017	T	0.14200	-1.0481	10	0.46703	T	0.11	-5.9846	14.3328	0.66569	0.0:0.7189:0.2811:0.0	.	211;218;218;252	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	C	252;252;218;211	ENSP00000357320:S252C;ENSP00000341692:S252C;ENSP00000412605:S218C;ENSP00000445003:S211C	ENSP00000341692:S252C	S	+	2	0	DAP3	153965693	0.000000	0.05858	0.011000	0.14972	0.948000	0.59901	0.464000	0.21988	1.606000	0.50161	0.650000	0.86243	TCT	DAP3	-	pfam_Ribosomal_S23/S29_mit	ENSG00000132676		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	104	0.00	0	C	NM_004632		155699069	155699069	+1	no_errors	ENST00000343043	ensembl	human	known	69_37n	missense	249	21.94	70	SNP	0.205	G
DDIT4L	115265	genome.wustl.edu	37	4	101111134	101111134	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:101111134C>T	ENST00000273990.2	-	2	221	c.7G>A	c.(7-9)Gca>Aca	p.A3T	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	3					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CTGCCAGTTGCAACCATGGTC	0.557																																						dbGAP											0													131.0	118.0	122.0					4																	101111134		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.7G>A	4.37:g.101111134C>T	ENSP00000354830:p.Ala3Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C3	Missense_Mutation	SNP	pfam_RTP801-like	p.A3T	ENST00000273990.2	37	c.7	CCDS34036.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.139083	0.94560	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.56444	0.46;0.46	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.59335	0.2186	L	0.27053	0.805	0.45183	D	0.998192	D	0.63880	0.993	D	0.72338	0.977	T	0.63883	-0.6536	10	0.72032	D	0.01	-15.8341	14.0806	0.64919	0.0:1.0:0.0:0.0	.	3	Q96D03	DDT4L_HUMAN	T	3	ENSP00000354830:A3T;ENSP00000427301:A3T	ENSP00000354830:A3T	A	-	1	0	DDIT4L	101330157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.693000	0.61753	2.298000	0.77334	0.561000	0.74099	GCA	DDIT4L	-	NULL	ENSG00000145358		0.557	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	49	0.00	0	C	NM_145244		101111134	101111134	-1	no_errors	ENST00000273990	ensembl	human	known	69_37n	missense	10	61.54	16	SNP	1.000	T
DGCR14	8220	genome.wustl.edu	37	22	19127373	19127373	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:19127373C>G	ENST00000252137.6	-	4	608	c.565G>C	c.(565-567)Gag>Cag	p.E189Q		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	189					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACACCTTCTCAAACTCTTCC	0.612																																						dbGAP											0													154.0	145.0	148.0					22																	19127373		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.565G>C	22.37:g.19127373C>G	ENSP00000252137:p.Glu189Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.E189Q	ENST00000252137.6	37	c.565	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130377	0.37630	.	.	ENSG00000100056	ENST00000252137	T	0.43294	0.95	4.6	4.6	0.57074	.	0.118187	0.64402	D	0.000015	T	0.31295	0.0792	L	0.38838	1.175	0.35775	D	0.821189	P	0.38677	0.642	B	0.37550	0.253	T	0.37549	-0.9701	10	0.31617	T	0.26	-27.77	10.0162	0.42016	0.0:0.9053:0.0:0.0946	.	189	Q96DF8	DGC14_HUMAN	Q	189	ENSP00000252137:E189Q	ENSP00000252137:E189Q	E	-	1	0	DGCR14	17507373	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.118000	0.57884	2.387000	0.81309	0.563000	0.77884	GAG	DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.612	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	65	0.00	0	C			19127373	19127373	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	G
DGCR14	8220	genome.wustl.edu	37	22	19130257	19130257	+	Missense_Mutation	SNP	G	G	A	rs549848339		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:19130257G>A	ENST00000252137.6	-	2	329	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	96					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGGGGCTCCCGGGACATCTTG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18376	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													88.0	89.0	89.0					22																	19130257		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.286C>T	22.37:g.19130257G>A	ENSP00000252137:p.Arg96Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.R96W	ENST00000252137.6	37	c.286	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712221	0.68730	.	.	ENSG00000100056	ENST00000252137	T	0.46063	0.88	4.18	1.87	0.25490	.	0.133485	0.51477	D	0.000083	T	0.48960	0.1529	L	0.52011	1.625	0.39590	D	0.969579	D	0.65815	0.995	P	0.57057	0.812	T	0.54702	-0.8254	10	0.62326	D	0.03	-4.1702	11.3117	0.49368	0.0:0.0:0.5801:0.4199	.	96	Q96DF8	DGC14_HUMAN	W	96	ENSP00000252137:R96W	ENSP00000252137:R96W	R	-	1	2	DGCR14	17510257	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	1.250000	0.32850	0.958000	0.37956	0.655000	0.94253	CGG	DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.587	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	39	0.00	0	G			19130257	19130257	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	missense	42	25.42	15	SNP	0.989	A
DHX16	8449	genome.wustl.edu	37	6	30624478	30624478	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:30624478C>A	ENST00000376442.3	-	14	2402	c.2207G>T	c.(2206-2208)cGc>cTc	p.R736L	DHX16_ENST00000376437.5_Missense_Mutation_p.R255L|DHX16_ENST00000480966.1_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	736	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGTATACAGGCGGAAGCACTT	0.592																																						dbGAP											0													87.0	83.0	85.0					6																	30624478		1511	2709	4220	-	-	-	SO:0001583	missense	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2207G>T	6.37:g.30624478C>A	ENSP00000365625:p.Arg736Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R736L	ENST00000376442.3	37	c.2207	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.203153	0.95033	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.03413	3.94;3.94	5.21	5.21	0.72293	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	H	0.99847	4.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.971;0.995;0.962	T	0.63915	-0.6529	10	0.87932	D	0	.	17.6941	0.88276	0.0:1.0:0.0:0.0	.	676;736;255	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	L	736;255	ENSP00000365625:R736L;ENSP00000365620:R255L	ENSP00000365620:R255L	R	-	2	0	DHX16	30732457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.418000	0.80167	2.712000	0.92718	0.561000	0.74099	CGC	DHX16	-	pfscan_Helicase_C	ENSG00000204560		0.592	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	108	0.00	0	C	NM_003587		30624478	30624478	-1	no_errors	ENST00000376442	ensembl	human	known	69_37n	missense	154	30.94	69	SNP	1.000	A
DIDO1	11083	genome.wustl.edu	37	20	61542600	61542600	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:61542600C>G	ENST00000266070.4	-	3	690	c.365G>C	c.(364-366)aGa>aCa	p.R122T	DIDO1_ENST00000395335.2_Missense_Mutation_p.R122T|DIDO1_ENST00000370368.1_Missense_Mutation_p.R122T|DIDO1_ENST00000370366.1_Missense_Mutation_p.R122T|DIDO1_ENST00000354665.4_Missense_Mutation_p.R122T|DIDO1_ENST00000370371.4_Missense_Mutation_p.R122T|DIDO1_ENST00000395340.1_Missense_Mutation_p.R122T|DIDO1_ENST00000395343.1_Missense_Mutation_p.R122T|DIDO1_ENST00000266071.5_Missense_Mutation_p.R122T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	122					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGCCGCTTCTGGTCTCAGA	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													48.0	36.0	40.0					20																	61542600		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.365G>C	20.37:g.61542600C>G	ENSP00000266070:p.Arg122Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R122T	ENST00000266070.4	37	c.365	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965632	0.18583	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.20200	3.52;3.52;2.61;2.61;2.09;2.09;2.09;2.11;2.11	5.72	1.84	0.25277	.	0.160886	0.28301	U	0.015860	T	0.12860	0.0312	N	0.22421	0.69	0.09310	N	1	B;B;P;P	0.38922	0.435;0.43;0.634;0.651	B;B;B;B	0.35114	0.116;0.196;0.167;0.081	T	0.09975	-1.0650	10	0.72032	D	0.01	-17.6326	9.8634	0.41129	0.0:0.2144:0.0:0.7856	.	122;122;122;122	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	T	122	ENSP00000266070:R122T;ENSP00000378752:R122T;ENSP00000378749:R122T;ENSP00000378744:R122T;ENSP00000359397:R122T;ENSP00000359394:R122T;ENSP00000346692:R122T;ENSP00000359391:R122T;ENSP00000266071:R122T	ENSP00000266070:R122T	R	-	2	0	DIDO1	61013045	0.928000	0.31464	0.000000	0.03702	0.006000	0.05464	1.827000	0.39102	0.047000	0.15862	0.655000	0.94253	AGA	DIDO1	-	NULL	ENSG00000101191		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	33	0.00	0	C	NM_080796		61542600	61542600	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.009	G
DIO2	1734	genome.wustl.edu	37	14	80677773	80677773	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:80677773G>A	ENST00000557010.1	-	3	428	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	DIO2_ENST00000422005.3_Silent_p.L15L|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000438257.4_Silent_p.L15L|DIO2_ENST00000557125.1_Silent_p.L15L|DIO2_ENST00000555750.1_Silent_p.L15L	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	15					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAAACTGGCAGAATTTGCAGT	0.532																																						dbGAP											0													35.0	38.0	37.0					14																	80677773		2047	4175	6222	-	-	-	SO:0001819	synonymous_variant	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.43C>T	14.37:g.80677773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	pfam_Iodothyronine_deiodinase	p.L15	ENST00000557010.1	37	c.43	CCDS45146.1	14																																																																																			DIO2	-	pfam_Iodothyronine_deiodinase	ENSG00000211448		0.532	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413428.2	37	0.00	0	G			80677773	80677773	-1	no_errors	ENST00000422005	ensembl	human	known	69_37n	silent	36	26.53	13	SNP	1.000	A
DISP2	85455	genome.wustl.edu	37	15	40659881	40659881	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:40659881C>G	ENST00000267889.3	+	8	1655	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	523	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGCTGGGCTCACTGCTGGTG	0.622																																						dbGAP											0													100.0	89.0	93.0					15																	40659881		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1568C>G	15.37:g.40659881C>G	ENSP00000267889:p.Ser523*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHW3|Q9C0C1	Nonsense_Mutation	SNP	pfscan_SSD	p.S523*	ENST00000267889.3	37	c.1568	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.278767	0.97435	.	.	ENSG00000140323	ENST00000267889	.	.	.	5.58	4.6	0.57074	.	0.109676	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.1191	15.9203	0.79562	0.0:0.8648:0.1351:0.0	.	.	.	.	X	523	.	ENSP00000267889:S523X	S	+	2	0	DISP2	38447173	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.032000	0.70918	2.625000	0.88918	0.561000	0.74099	TCA	DISP2	-	pfscan_SSD	ENSG00000140323		0.622	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	55	0.00	0	C	NM_033510		40659881	40659881	+1	no_errors	ENST00000267889	ensembl	human	known	69_37n	nonsense	24	29.41	10	SNP	1.000	G
DMBT1	1755	genome.wustl.edu	37	10	124351025	124351025	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:124351025C>T	ENST00000338354.3	+	19	2274	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	DMBT1_ENST00000368909.3_Missense_Mutation_p.S723L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S713L|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S713L|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	723					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTACCTCCATCGACAGTAGGT	0.453																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													421.0	294.0	335.0					10																	124351025		1935	4074	6009	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2168C>T	10.37:g.124351025C>T	ENSP00000342210:p.Ser723Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.S723L	ENST00000338354.3	37	c.2168		10	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143390	0.01728	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	1.26	0.316	0.15857	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	0.999998	D;D;B	0.71674	0.998;0.961;0.0	P;P;B	0.59546	0.859;0.846;0.0	T	0.14172	-1.0482	9	0.21014	T	0.42	.	3.7637	0.08615	0.0:0.7468:0.0:0.2532	.	723;713;723	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	L	723;723;723;723;723;723;713;723;713	ENSP00000342210:S723L;ENSP00000343175:S713L;ENSP00000357905:S723L;ENSP00000357951:S713L	ENSP00000342210:S723L	S	+	2	0	DMBT1	124341015	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.275000	0.02817	0.110000	0.17919	-0.671000	0.03813	TCG	DMBT1	-	NULL	ENSG00000187908		0.453	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	470	0.00	0	C	NM_004406		124351025	124351025	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	382	32.27	182	SNP	0.000	T
DNAH11	8701	genome.wustl.edu	37	7	21640303	21640303	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:21640303G>C	ENST00000409508.3	+	16	3041	c.3010G>C	c.(3010-3012)Gat>Cat	p.D1004H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1004H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1004	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAATGATATGGATAACATGTT	0.388									Kartagener syndrome																													dbGAP											0													189.0	186.0	187.0					7																	21640303		1933	4154	6087	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3010G>C	7.37:g.21640303G>C	ENSP00000475939:p.Asp1004His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	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.D1004H	ENST00000409508.3	37	c.3010		7	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230522	0.58777	.	.	ENSG00000105877	ENST00000328843	T	0.23754	1.89	5.62	5.62	0.85841	.	0.170883	0.50627	D	0.000103	T	0.33644	0.0870	.	.	.	0.44780	D	0.997787	D	0.53151	0.958	P	0.50791	0.65	T	0.04191	-1.0970	9	0.51188	T	0.08	.	9.3653	0.38221	0.0755:0.0:0.7783:0.1462	.	1004	Q96DT5	DYH11_HUMAN	H	1004	ENSP00000330671:D1004H	ENSP00000330671:D1004H	D	+	1	0	DNAH11	21606828	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.941000	0.63540	2.671000	0.90904	0.552000	0.68991	GAT	DNAH11	-	NULL	ENSG00000105877		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	876	0.00	0	G	NM_003777		21640303	21640303	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	1012	26.72	369	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38950129	38950129	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:38950129G>A	ENST00000359357.3	+	84	12445	c.12191G>A	c.(12190-12192)cGa>cAa	p.R4064Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4028Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4064	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGAGCGACGAAAATTTGGC	0.343																																						dbGAP											0													207.0	204.0	205.0					6																	38950129		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12191G>A	6.37:g.38950129G>A	ENSP00000352312:p.Arg4064Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	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.R4064Q	ENST00000359357.3	37	c.12191		6	.	.	.	.	.	.	.	.	.	.	G	36	5.856249	0.97030	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10668	2.85;2.85;2.85	6.17	6.17	0.99709	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65080	-0.6255	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	4028;4064	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Q	4269;4064;4028	ENSP00000333363:R4269Q;ENSP00000352312:R4064Q;ENSP00000402294:R4028Q	ENSP00000333363:R4269Q	R	+	2	0	DNAH8	39058107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.673000	0.98631	2.941000	0.99782	0.655000	0.94253	CGA	DNAH8	-	pfam_Dynein_heavy	ENSG00000124721		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	497	0.20	1	G	NM_001206927		38950129	38950129	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	509	15.17	91	SNP	1.000	A
DSEL	92126	genome.wustl.edu	37	18	65179785	65179785	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr18:65179785G>A	ENST00000310045.7	-	2	3564	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	687					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGGAGACATTGATATATGGCC	0.338																																						dbGAP											0													72.0	74.0	74.0					18																	65179785		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2091C>T	18.37:g.65179785G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RH1|Q6P5Z3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.I697	ENST00000310045.7	37	c.2091	CCDS11995.1	18																																																																																			DSEL	-	NULL	ENSG00000171451		0.338	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	185	0.00	0	G	NM_032160		65179785	65179785	-1	no_errors	ENST00000310045	ensembl	human	known	69_37n	silent	47	43.37	36	SNP	1.000	A
DSTYK	25778	genome.wustl.edu	37	1	205156711	205156711	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:205156711G>A	ENST00000367162.3	-	2	519	c.489C>T	c.(487-489)gtC>gtT	p.V163V	DSTYK_ENST00000367160.4_Silent_p.V163V|DSTYK_ENST00000367161.3_Silent_p.V163V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	163					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCGCCAGGCTGACCCGAGTCT	0.602																																						dbGAP											0													63.0	53.0	56.0					1																	205156711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.489C>T	1.37:g.205156711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	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.V163	ENST00000367162.3	37	c.489	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.602	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	96	0.00	0	G	NM_015375		205156711	205156711	-1	no_errors	ENST00000367162	ensembl	human	known	69_37n	silent	213	19.55	52	SNP	1.000	A
DTNBP1	84062	genome.wustl.edu	37	6	15524673	15524673	+	Intron	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:15524673G>C	ENST00000344537.5	-	9	984				DTNBP1_ENST00000338950.5_Missense_Mutation_p.P299A|DTNBP1_ENST00000462989.2_Intron|DTNBP1_ENST00000355917.3_Intron	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TAAGTGACTGGCAGATGGTTC	0.572									Hermansky-Pudlak syndrome																													dbGAP											0													309.0	263.0	278.0					6																	15524673		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.811+83C>G	6.37:g.15524673G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	pfam_Dysbindin,superfamily_PyrdxlP-dep_enz_bsu	p.P299A	ENST00000344537.5	37	c.895	CCDS4534.1	6	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345750	0.11126	.	.	ENSG00000047579	ENST00000338950;ENST00000543749	T	0.30714	1.52	1.49	-2.97	0.05530	.	.	.	.	.	T	0.02571	0.0078	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	9	0.87932	D	0	.	0.8706	0.01213	0.1706:0.2816:0.3423:0.2056	.	299;299	F5GY46;Q96EV8-2	.;.	A	299	ENSP00000344718:P299A	ENSP00000344718:P299A	P	-	1	0	DTNBP1	15632652	0.011000	0.17503	0.000000	0.03702	0.005000	0.04900	0.529000	0.23019	-1.087000	0.03081	0.561000	0.74099	CCA	DTNBP1	-	NULL	ENSG00000047579		0.572	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DTNBP1	HGNC	protein_coding	OTTHUMT00000039933.2	172	0.00	0	G	NM_032122		15524673	15524673	-1	no_errors	ENST00000338950	ensembl	human	known	69_37n	missense	150	19.79	37	SNP	0.000	C
DUSP16	80824	genome.wustl.edu	37	12	12630056	12630056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:12630056G>C	ENST00000228862.2	-	7	2340	c.1709C>G	c.(1708-1710)tCa>tGa	p.S570*	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	570					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GTAGATGGCTGAGGCAGAGTA	0.587																																					Ovarian(158;443 1896 15437 36069 46477)	dbGAP											0													91.0	97.0	95.0					12																	12630056		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1709C>G	12.37:g.12630056G>C	ENSP00000228862:p.Ser570*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q547C7|Q96QS2|Q9C0G3	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S570*	ENST00000228862.2	37	c.1709	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.132005	0.98085	.	.	ENSG00000111266	ENST00000228862	.	.	.	4.76	4.76	0.60689	.	0.281659	0.25014	N	0.033809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.3192	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	X	570	.	ENSP00000228862:S570X	S	-	2	0	DUSP16	12521323	1.000000	0.71417	0.738000	0.30950	0.104000	0.19210	8.307000	0.89964	2.619000	0.88677	0.655000	0.94253	TCA	DUSP16	-	NULL	ENSG00000111266		0.587	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	171	0.00	0	G	NM_030640		12630056	12630056	-1	no_errors	ENST00000228862	ensembl	human	known	69_37n	nonsense	31	50.79	32	SNP	0.760	C
DUSP16	80824	genome.wustl.edu	37	12	12630252	12630252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:12630252G>A	ENST00000228862.2	-	7	2144	c.1513C>T	c.(1513-1515)Cga>Tga	p.R505*	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	505					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R505*(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTCCCACTTCGATGCAGTGGA	0.592																																					Ovarian(158;443 1896 15437 36069 46477)	dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											62.0	61.0	61.0					12																	12630252		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1513C>T	12.37:g.12630252G>A	ENSP00000228862:p.Arg505*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q547C7|Q96QS2|Q9C0G3	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.R505*	ENST00000228862.2	37	c.1513	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.692758	0.98438	.	.	ENSG00000111266	ENST00000228862	.	.	.	5.21	5.21	0.72293	.	0.454840	0.19698	N	0.108116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	.	.	.	X	505	.	ENSP00000228862:R505X	R	-	1	2	DUSP16	12521519	1.000000	0.71417	0.076000	0.20297	0.260000	0.26232	5.321000	0.65846	2.700000	0.92200	0.655000	0.94253	CGA	DUSP16	-	NULL	ENSG00000111266		0.592	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	126	0.00	0	G	NM_030640		12630252	12630252	-1	no_errors	ENST00000228862	ensembl	human	known	69_37n	nonsense	30	45.45	25	SNP	0.501	A
EFCAB7	84455	genome.wustl.edu	37	1	64011606	64011606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:64011606C>G	ENST00000371088.4	+	7	1070	c.824C>G	c.(823-825)tCa>tGa	p.S275*	DLEU2L_ENST00000371086.2_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	275							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CACATGCAATCAAAAGGTTGC	0.348																																						dbGAP											0													75.0	74.0	75.0					1																	64011606		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.824C>G	1.37:g.64011606C>G	ENSP00000360129:p.Ser275*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S275*	ENST00000371088.4	37	c.824	CCDS30737.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.319186	0.95682	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	5.76	0.90799	.	0.678757	0.14980	N	0.287311	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.6706	15.4524	0.75282	0.0:0.8618:0.1382:0.0	.	.	.	.	X	275	.	ENSP00000360129:S275X	S	+	2	0	EFCAB7	63784194	0.689000	0.27690	0.971000	0.41717	0.279000	0.26890	3.048000	0.49862	2.730000	0.93505	0.591000	0.81541	TCA	EFCAB7	-	NULL	ENSG00000203965		0.348	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	96	0.00	0	C	NM_032437		64011606	64011606	+1	no_errors	ENST00000371088	ensembl	human	known	69_37n	nonsense	215	34.65	114	SNP	0.990	G
EIF2B2	8892	genome.wustl.edu	37	14	75470270	75470270	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:75470270G>A	ENST00000266126.5	+	3	381	c.301G>A	c.(301-303)Gac>Aac	p.D101N	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	101				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|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)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGGACGCAGCGACGAGAGTGA	0.517																																						dbGAP											0													105.0	93.0	97.0					14																	75470270		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.301G>A	14.37:g.75470270G>A	ENSP00000266126:p.Asp101Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.D101N	ENST00000266126.5	37	c.301	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580915	0.86748	.	.	ENSG00000119718	ENST00000266126	D	0.92965	-3.14	5.75	5.75	0.90469	.	0.047720	0.85682	D	0.000000	D	0.90810	0.7114	L	0.28054	0.825	0.80722	D	1	P	0.45240	0.854	P	0.48921	0.595	D	0.90410	0.4409	10	0.44086	T	0.13	-30.156	19.9439	0.97175	0.0:0.0:1.0:0.0	.	101	P49770	EI2BB_HUMAN	N	101	ENSP00000266126:D101N	ENSP00000266126:D101N	D	+	1	0	EIF2B2	74540023	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.869000	0.99810	2.706000	0.92434	0.561000	0.74099	GAC	EIF2B2	-	pfam_IF-2B-related	ENSG00000119718		0.517	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	79	0.00	0	G	NM_014239		75470270	75470270	+1	no_errors	ENST00000266126	ensembl	human	known	69_37n	missense	64	34.69	34	SNP	1.000	A
EIF4A2	1974	genome.wustl.edu	37	3	186504030	186504030	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:186504030G>C	ENST00000323963.5	+	6	659	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E200Q|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.E104Q			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCAAATCTATGAGATTTTCCA	0.358			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													80.0	80.0	80.0					3																	186504030		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.595G>C	3.37:g.186504030G>C	ENSP00000326381:p.Glu199Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E200Q	ENST00000323963.5	37	c.598	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395029	0.62066	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.13901	2.55;2.55;2.55	5.13	5.13	0.70059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045727	0.85682	D	0.000000	T	0.12305	0.0299	N	0.20328	0.56	0.80722	D	1	B;B;B;B	0.32382	0.368;0.006;0.094;0.051	B;B;B;B	0.35114	0.196;0.063;0.087;0.141	T	0.09100	-1.0690	10	0.87932	D	0	-28.5483	16.4642	0.84073	0.0:0.0:1.0:0.0	.	55;104;200;199	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	Q	199;200;104	ENSP00000326381:E199Q;ENSP00000398370:E200Q;ENSP00000348925:E104Q	ENSP00000326381:E199Q	E	+	1	0	EIF4A2	187986724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.941000	0.92964	2.827000	0.97445	0.650000	0.86243	GAG	EIF4A2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000156976		0.358	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	68	0.00	0	G	NM_001967		186504030	186504030	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	56	31.71	26	SNP	1.000	C
EIF4A2	1974	genome.wustl.edu	37	3	186504350	186504351	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:186504350_186504351delGA	ENST00000323963.5	+	7	751_752	c.687_688delGA	c.(685-690)atgagafs	p.R230fs	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.R231fs|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.R135fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	230	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAAATTCATGAGAGATCCAAT	0.351			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.687_688delGA	3.37:g.186504354_186504355delGA	ENSP00000326381:p.Arg230fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D232fs	ENST00000323963.5	37	c.690_691	CCDS3282.1	3																																																																																			EIF4A2	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000156976		0.351	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	112	0.00	0	GA	NM_001967		186504350	186504351	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	frame_shift_del	83	19.23	20	DEL	1.000:1.000	-
ELTD1	64123	genome.wustl.edu	37	1	79357213	79357213	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:79357213C>G	ENST00000370742.3	-	14	2069	c.2006G>C	c.(2005-2007)aGa>aCa	p.R669T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	669					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)		GTTTACCTTTCTAGATAAAAC	0.358																																						dbGAP											0													41.0	40.0	41.0					1																	79357213		1837	4083	5920	-	-	-	SO:0001583	missense	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.2006G>C	1.37:g.79357213C>G	ENSP00000359778:p.Arg669Thr	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.R669T	ENST00000370742.3	37	c.2006	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854899	0.71719	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42513	0.97;0.97	5.59	5.59	0.84812	GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.39898	1.24	0.58432	D	0.999991	P	0.47910	0.902	P	0.47626	0.552	T	0.02539	-1.1144	9	.	.	.	.	12.8706	0.57962	0.0:0.9255:0.0:0.0745	.	669	Q9HBW9	ELTD1_HUMAN	T	669;127	ENSP00000359778:R669T;ENSP00000383813:R127T	.	R	-	2	0	ELTD1	79129801	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.154000	0.58125	2.612000	0.88384	0.655000	0.94253	AGA	ELTD1	-	NULL	ENSG00000162618		0.358	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	108	0.00	0	C	NM_022159		79357213	79357213	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	G
ERBB2IP	55914	genome.wustl.edu	37	5	65338994	65338994	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:65338994G>A	ENST00000284037.5	+	16	1785	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E466K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E466K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E466K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E466K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E466K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E466K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E466K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E466K|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	466					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGAATGTGATGAAGACAAAGA	0.358																																						dbGAP											0													92.0	88.0	90.0					5																	65338994		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1396G>A	5.37:g.65338994G>A	ENSP00000284037:p.Glu466Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E466K	ENST00000284037.5	37	c.1396	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.546487	0.96488	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.40756	1.21;1.21;1.22;1.41;1.02;1.3;1.2;1.25;1.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D	0.76494	0.999;0.757;0.998;0.999;0.997;0.997;0.998	D;B;D;D;D;D;D	0.79784	0.958;0.186;0.993;0.91;0.985;0.942;0.942	T	0.55860	-0.8074	10	0.62326	D	0.03	.	19.6035	0.95573	0.0:0.0:1.0:0.0	.	466;466;466;466;466;466;466	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	466	ENSP00000284037:E466K;ENSP00000370330:E466K;ENSP00000370326:E466K;ENSP00000370323:E466K;ENSP00000370322:E466K;ENSP00000370325:E466K;ENSP00000422766:E466K;ENSP00000426632:E466K;ENSP00000422015:E466K	ENSP00000284037:E466K	E	+	1	0	ERBB2IP	65374750	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.388000	0.97237	2.814000	0.96858	0.650000	0.86243	GAA	ERBB2IP	-	NULL	ENSG00000112851		0.358	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	195	0.00	0	G	NM_018695		65338994	65338994	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	181	32.71	88	SNP	1.000	A
ERBB3	2065	genome.wustl.edu	37	12	56490928	56490928	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:56490928C>G	ENST00000267101.3	+	20	2814	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	ERBB3_ENST00000450146.2_Missense_Mutation_p.L149V|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.L33V|ERBB3_ENST00000415288.2_Missense_Mutation_p.L733V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	792	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATATTTGCCTCTGGGTTCTCT	0.562																																						dbGAP											0													91.0	80.0	84.0					12																	56490928		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2374C>G	12.37:g.56490928C>G	ENSP00000267101:p.Leu792Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L792V	ENST00000267101.3	37	c.2374	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625766	0.46840	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.59	2.71	0.32032	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111414	0.38492	N	0.001665	T	0.61413	0.2345	M	0.86420	2.815	0.34700	D	0.726659	B	0.29162	0.235	B	0.32465	0.146	T	0.59852	-0.7376	10	0.24483	T	0.36	.	5.0098	0.14306	0.144:0.6127:0.0:0.2434	.	792	P21860	ERBB3_HUMAN	V	792;149;733;33	ENSP00000267101:L792V;ENSP00000399178:L149V;ENSP00000408340:L733V;ENSP00000449129:L33V	ENSP00000267101:L792V	L	+	1	2	ERBB3	54777195	0.946000	0.32159	1.000000	0.80357	0.968000	0.65278	1.876000	0.39588	0.370000	0.24538	0.561000	0.74099	CTG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065361		0.562	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	66	0.00	0	C			56490928	56490928	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	95	26.36	34	SNP	0.999	G
ESRP1	54845	genome.wustl.edu	37	8	95654281	95654281	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr8:95654281C>G	ENST00000433389.2	+	2	420	c.230C>G	c.(229-231)tCg>tGg	p.S77W	ESRP1_ENST00000423620.2_Missense_Mutation_p.S77W|ESRP1_ENST00000358397.5_Missense_Mutation_p.S77W|RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000454170.2_Missense_Mutation_p.S77W	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	77					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGCCTGTCCTCGGCGTCGCAG	0.607																																						dbGAP											0													62.0	70.0	67.0					8																	95654281		1990	4163	6153	-	-	-	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.230C>G	8.37:g.95654281C>G	ENSP00000405738:p.Ser77Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.S77W	ENST00000433389.2	37	c.230	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567411	0.65651	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.96	4.96	0.65561	Ribonuclease H-like (1);	0.347798	0.30830	N	0.008793	T	0.40670	0.1126	N	0.14661	0.345	0.29427	N	0.860149	P;P;P;B;B	0.39748	0.686;0.686;0.559;0.377;0.259	P;B;P;P;B	0.51516	0.609;0.14;0.473;0.672;0.404	T	0.38564	-0.9655	10	0.59425	D	0.04	-5.3819	6.8228	0.23866	0.0:0.7754:0.0:0.2246	.	77;77;77;77;77	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	W	77	ENSP00000407349:S77W;ENSP00000405738:S77W;ENSP00000351168:S77W;ENSP00000402766:S77W	ENSP00000351168:S77W	S	+	2	0	ESRP1	95723457	0.000000	0.05858	0.970000	0.41538	0.968000	0.65278	0.698000	0.25571	2.275000	0.75901	0.655000	0.94253	TCG	ESRP1	-	superfamily_RNaseH-like_dom	ENSG00000104413		0.607	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	28	0.00	0	C	NM_017697		95654281	95654281	+1	no_errors	ENST00000433389	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.407	G
FAAH	2166	genome.wustl.edu	37	1	46872031	46872031	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:46872031C>A	ENST00000243167.8	+	7	1026	c.942C>A	c.(940-942)ttC>ttA	p.F314L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	314					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)	CCTTGCCCTTCAGAGAAGAGG	0.657											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													66.0	61.0	63.0					1																	46872031		2203	4300	6503	-	-	-	SO:0001583	missense	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.942C>A	1.37:g.46872031C>A	ENSP00000243167:p.Phe314Leu	Somatic	942	WXS	Illumina GAIIx	Phase_IV	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.F314L	ENST00000243167.8	37	c.942	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016488	0.54468	.	.	ENSG00000117480	ENST00000243167	T	0.62788	-0.0	5.15	5.15	0.70609	Amidase signature domain (2);	0.173400	0.49305	D	0.000146	T	0.73628	0.3611	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.75642	-0.3247	10	0.72032	D	0.01	-4.4721	12.052	0.53511	0.0:0.921:0.0:0.079	.	314	O00519	FAAH1_HUMAN	L	314	ENSP00000243167:F314L	ENSP00000243167:F314L	F	+	3	2	FAAH	46644618	1.000000	0.71417	0.987000	0.45799	0.052000	0.14988	3.936000	0.56568	2.399000	0.81585	0.655000	0.94253	TTC	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	ENSG00000117480		0.657	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	26	0.00	0	C	NM_001441		46872031	46872031	+1	no_errors	ENST00000243167	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	A
AMER1	139285	genome.wustl.edu	37	X	63413064	63413064	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:63413064C>T	ENST00000330258.3	-	2	375	c.103G>A	c.(103-105)Gag>Aag	p.E35K	AMER1_ENST00000374869.3_Missense_Mutation_p.E35K|AMER1_ENST00000403336.1_Missense_Mutation_p.E35K	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	35					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCTGTCGCCTCAGCTGCCTTG	0.542																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											245.0	192.0	210.0					X																	63413064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.103G>A	X.37:g.63413064C>T	ENSP00000329117:p.Glu35Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E35K	ENST00000330258.3	37	c.103	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	3.974	-0.007867	0.07773	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.49139	0.79;0.8;0.79	4.59	3.72	0.42706	.	0.216358	0.32459	N	0.006069	T	0.35158	0.0922	L	0.32530	0.975	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.08534	-1.0717	10	0.36615	T	0.2	-7.9228	14.4595	0.67440	0.0:0.9156:0.0:0.0844	.	35	Q5JTC6	F123B_HUMAN	K	35	ENSP00000364003:E35K;ENSP00000329117:E35K;ENSP00000384722:E35K	ENSP00000329117:E35K	E	-	1	0	FAM123B	63329789	0.869000	0.29996	0.052000	0.19188	0.030000	0.12068	1.527000	0.35975	0.668000	0.31126	-0.905000	0.02835	GAG	FAM123B	-	NULL	ENSG00000184675		0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	227	0.00	0	C	NM_152424		63413064	63413064	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	219	29.35	91	SNP	0.181	T
FAM208B	54906	genome.wustl.edu	37	10	5788358	5788358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:5788358C>T	ENST00000328090.5	+	15	3599	c.2974C>T	c.(2974-2976)Cag>Tag	p.Q992*	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	992																	AGTGATATGTCAGAGCTCTGT	0.483																																						dbGAP											0													100.0	98.0	99.0					10																	5788358		2004	4173	6177	-	-	-	SO:0001587	stop_gained	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2974C>T	10.37:g.5788358C>T	ENSP00000328426:p.Gln992*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.Q992*	ENST00000328090.5	37	c.2974	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.807794	0.98962	.	.	ENSG00000108021	ENST00000328090	.	.	.	5.5	1.09	0.20402	.	0.847133	0.10212	N	0.701975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.2267	0.73357	0.0:0.3103:0.6897:0.0	.	.	.	.	X	992	.	ENSP00000328426:Q992X	Q	+	1	0	C10orf18	5828364	0.039000	0.19947	0.001000	0.08648	0.007000	0.05969	0.502000	0.22594	0.207000	0.20607	0.655000	0.94253	CAG	FAM208B	-	pfam_DUF3715	ENSG00000108021		0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	102	0.00	0	C	NM_017782		5788358	5788358	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	nonsense	91	33.09	45	SNP	0.002	T
FAM46C	54855	genome.wustl.edu	37	1	118166421	118166421	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:118166421C>T	ENST00000369448.3	+	2	1178	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	311										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CATGATCCTTCGCAGGGTGGT	0.542			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												dbGAP		Rec	yes		1	1p12	54855	"""family with sequence similarity 46, member C"""		L	0													150.0	128.0	136.0					1																	118166421		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.931C>T	1.37:g.118166421C>T	ENSP00000358458:p.Arg311Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	pfam_DUF1693	p.R311C	ENST00000369448.3	37	c.931	CCDS896.1	1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592922	0.66219	.	.	ENSG00000183508	ENST00000369448	T	0.25912	1.77	5.7	4.79	0.61399	Domain of unknown function DUF1693 (1);	0.082006	0.52532	D	0.000079	T	0.17577	0.0422	M	0.72118	2.19	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.06373	-1.0830	10	0.72032	D	0.01	-0.0418	13.7448	0.62868	0.0:0.9263:0.0:0.0737	.	311	Q5VWP2	FA46C_HUMAN	C	311	ENSP00000358458:R311C	ENSP00000358458:R311C	R	+	1	0	FAM46C	117967944	1.000000	0.71417	0.885000	0.34714	0.944000	0.59088	5.742000	0.68646	1.417000	0.47077	-0.136000	0.14681	CGC	FAM46C	-	pfam_DUF1693	ENSG00000183508		0.542	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	HGNC	protein_coding	OTTHUMT00000038424.1	125	0.00	0	C	NM_017709		118166421	118166421	+1	no_errors	ENST00000369448	ensembl	human	known	69_37n	missense	133	28.49	53	SNP	0.997	T
BRINP3	339479	genome.wustl.edu	37	1	190068000	190068000	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:190068000A>T	ENST00000367462.3	-	8	1680	c.1449T>A	c.(1447-1449)gaT>gaA	p.D483E	BRINP3_ENST00000534846.1_Missense_Mutation_p.D381E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	483					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAATATAGTGATCGGTGGACT	0.527																																						dbGAP											0													147.0	147.0	147.0					1																	190068000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1449T>A	1.37:g.190068000A>T	ENSP00000356432:p.Asp483Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.D483E	ENST00000367462.3	37	c.1449	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	3.813	-0.039386	0.07497	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.33216	1.42;1.42	5.75	-7.46	0.01369	.	0.051858	0.85682	D	0.000000	T	0.06325	0.0163	N	0.00985	-1.075	0.30814	N	0.738506	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	12.5187	0.56046	0.1806:0.1706:0.6488:0.0	.	381;483	B7Z260;Q76B58	.;FAM5C_HUMAN	E	483;381	ENSP00000356432:D483E;ENSP00000438022:D381E	ENSP00000356432:D483E	D	-	3	2	FAM5C	188334623	0.723000	0.28027	0.442000	0.26870	0.969000	0.65631	0.022000	0.13511	-1.160000	0.02804	0.482000	0.46254	GAT	FAM5C	-	NULL	ENSG00000162670		0.527	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	260	0.00	0	A	NM_199051		190068000	190068000	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	228	24.00	72	SNP	0.996	T
FAT2	2196	genome.wustl.edu	37	5	150935931	150935931	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:150935931C>G	ENST00000261800.5	-	3	3619	c.3607G>C	c.(3607-3609)Gag>Cag	p.E1203Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1203	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTGTTCTCTCTGTCCAGC	0.488																																						dbGAP											0													196.0	153.0	167.0					5																	150935931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3607G>C	5.37:g.150935931C>G	ENSP00000261800:p.Glu1203Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E1203Q	ENST00000261800.5	37	c.3607	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684068	0.88639	.	.	ENSG00000086570	ENST00000261800	T	0.72942	-0.7	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.184106	0.37715	N	0.001971	D	0.89392	0.6702	H	0.98005	4.125	0.58432	D	0.999999	D	0.60160	0.987	P	0.61722	0.893	D	0.93323	0.6694	10	0.72032	D	0.01	.	17.8104	0.88613	0.0:1.0:0.0:0.0	.	1203	Q9NYQ8	FAT2_HUMAN	Q	1203	ENSP00000261800:E1203Q	ENSP00000261800:E1203Q	E	-	1	0	FAT2	150916124	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.031000	0.70911	2.454000	0.82982	0.650000	0.86243	GAG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.488	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	102	0.00	0	C	NM_001447		150935931	150935931	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	1.000	G
FBXO6	26270	genome.wustl.edu	37	1	11728894	11728894	+	Missense_Mutation	SNP	G	G	C	rs3125818	byFrequency	TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:11728894G>C	ENST00000376753.4	+	2	314	c.179G>C	c.(178-180)cGa>cCa	p.R60P		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	60			R -> Q (in dbSNP:rs3125818).		DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGCCTGCGAGAGGGCTTC	0.627																																					NSCLC(54;506 1562 46490 51389)	dbGAP											0													60.0	64.0	63.0					1																	11728894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.179G>C	1.37:g.11728894G>C	ENSP00000365944:p.Arg60Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.R60P	ENST00000376753.4	37	c.179	CCDS133.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.05|12.05	1.821513|1.821513	0.32237|0.32237	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000449067|ENST00000376753	.|T	.|0.50548	.|0.74	5.15|5.15	-3.48|-3.48	0.04739|0.04739	.|F-box domain, Skp2-like (1);	.|0.120339	.|0.56097	.|D	.|0.000038	T|T	0.62024|0.62024	0.2394|0.2394	M|M	0.87971|0.87971	2.92|2.92	0.24173|0.24173	N|N	0.995612|0.995612	.|D	.|0.63880	.|0.993	.|D	.|0.71656	.|0.974	T|T	0.54768|0.54768	-0.8244|-0.8244	5|10	.|0.59425	.|D	.|0.04	-12.4923|-12.4923	5.8202|5.8202	0.18524|0.18524	0.1932:0.0:0.3929:0.4138|0.1932:0.0:0.3929:0.4138	.|.	.|60	.|Q9NRD1	.|FBX6_HUMAN	Q|P	48|60	.|ENSP00000365944:R60P	.|ENSP00000365944:R60P	E|R	+|+	1|2	0|0	FBXO6|FBXO6	11651481|11651481	0.007000|0.007000	0.16637|0.16637	0.002000|0.002000	0.10522|0.10522	0.042000|0.042000	0.13812|0.13812	-0.088000|-0.088000	0.11198|0.11198	-0.548000|-0.548000	0.06199|0.06199	-0.175000|-0.175000	0.13238|0.13238	GAG|CGA	FBXO6	-	superfamily_F-box_dom_cyclin-like	ENSG00000116663		0.627	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO6	HGNC	protein_coding	OTTHUMT00000006332.1	25	0.00	0	G	NM_018438		11728894	11728894	+1	no_errors	ENST00000376753	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.030	C
FLG	2312	genome.wustl.edu	37	1	152284025	152284025	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:152284025G>T	ENST00000368799.1	-	3	3372	c.3337C>A	c.(3337-3339)Cgt>Agt	p.R1113S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1113	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCCAGACCTT	0.587									Ichthyosis																													dbGAP											0													264.0	287.0	279.0					1																	152284025		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3337C>A	1.37:g.152284025G>T	ENSP00000357789:p.Arg1113Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R1113S	ENST00000368799.1	37	c.3337	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310779	0.10733	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01647	4.71	2.48	0.0915	0.14468	.	.	.	.	.	T	0.00637	0.0021	M	0.72118	2.19	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.50004	-0.8878	9	0.06757	T	0.87	.	6.3012	0.21113	0.0:0.0:0.4774:0.5226	.	1113	P20930	FILA_HUMAN	S	1113;320	ENSP00000357789:R1113S	ENSP00000357789:R1113S	R	-	1	0	FLG	150550649	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.020000	0.12525	0.366000	0.24427	0.299000	0.19835	CGT	FLG	-	NULL	ENSG00000143631		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	377	0.00	0	G	NM_002016		152284025	152284025	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	414	19.92	103	SNP	0.000	T
FBXO28	23219	genome.wustl.edu	37	1	224341019	224341019	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:224341019G>A	ENST00000366862.5	+	4	735	c.692G>A	c.(691-693)aGa>aAa	p.R231K	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	231										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTTTCTGGAAGACTCATGGGC	0.363																																						dbGAP											0													111.0	118.0	115.0					1																	224341019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.692G>A	1.37:g.224341019G>A	ENSP00000355827:p.Arg231Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEM8|O75070	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R231K	ENST00000366862.5	37	c.692	CCDS1539.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013151	0.75161	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	N	0.12887	0.27	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.48768	-0.9006	9	0.07813	T	0.8	-16.2062	19.6279	0.95687	0.0:0.0:1.0:0.0	.	231	Q9NVF7	FBX28_HUMAN	K	231	.	ENSP00000355827:R231K	R	+	2	0	FBXO28	222407642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.135000	0.94478	2.880000	0.98712	0.650000	0.86243	AGA	FBXO28	-	NULL	ENSG00000143756		0.363	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO28	HGNC	protein_coding	OTTHUMT00000091283.2	215	0.00	0	G	NM_015176		224341019	224341019	+1	no_errors	ENST00000366862	ensembl	human	known	69_37n	missense	447	16.14	86	SNP	1.000	A
FLRT3	23767	genome.wustl.edu	37	20	14307923	14307923	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:14307923G>C	ENST00000378053.3	-	2	486	c.230C>G	c.(229-231)tCa>tGa	p.S77*	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Nonsense_Mutation_p.S77*	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	77					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTTCAAATCTGAAGGAATCCC	0.363																																						dbGAP											0													130.0	139.0	136.0					20																	14307923		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.230C>G	20.37:g.14307923G>C	ENSP00000367292:p.Ser77*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.S77*	ENST00000378053.3	37	c.230	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.444699	0.97572	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	.	.	.	6.06	6.06	0.98353	.	0.076254	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-10.8217	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000339912:S77X	S	-	2	0	FLRT3	14255923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.894000	0.87336	2.882000	0.98803	0.655000	0.94253	TCA	FLRT3	-	NULL	ENSG00000125848		0.363	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	273	0.00	0	G	NM_013281		14307923	14307923	-1	no_errors	ENST00000341420	ensembl	human	known	69_37n	nonsense	414	10.58	49	SNP	1.000	C
FMNL2	114793	genome.wustl.edu	37	2	153488524	153488524	+	Silent	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:153488524C>G	ENST00000475377.2	+	8	878	c.678C>G	c.(676-678)ctC>ctG	p.L226L	FMNL2_ENST00000288670.9_Silent_p.L851L			Q96PY5	FMNL2_HUMAN	formin-like 2	851	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTTTTCAGCTCTTAGATACAA	0.408																																						dbGAP											0													84.0	77.0	79.0					2																	153488524		1895	4125	6020	-	-	-	SO:0001819	synonymous_variant	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.678C>G	2.37:g.153488524C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.L851	ENST00000475377.2	37	c.2553		2																																																																																			FMNL2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000157827		0.408	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333583.3	68	0.00	0	C	NM_052905		153488524	153488524	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	silent	65	33.33	33	SNP	0.981	G
FRK	2444	genome.wustl.edu	37	6	116289838	116289838	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:116289838G>A	ENST00000606080.1	-	3	977	c.531C>T	c.(529-531)ctC>ctT	p.L177L	FRK_ENST00000538210.1_Silent_p.L35L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	177	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTCTTCGCGTGAGAAAAAATC	0.403																																						dbGAP											0													136.0	133.0	134.0					6																	116289838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.531C>T	6.37:g.116289838G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY49|Q13128|Q9NTR5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L177	ENST00000606080.1	37	c.531	CCDS5103.1	6																																																																																			FRK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000111816		0.403	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	384	0.00	0	G	NM_002031		116289838	116289838	-1	no_errors	ENST00000368626	ensembl	human	known	69_37n	silent	281	24.66	92	SNP	0.668	A
GABRG3	2567	genome.wustl.edu	37	15	27725853	27725853	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:27725853C>T	ENST00000333743.6	+	6	886	c.632C>T	c.(631-633)gCt>gTt	p.A211V	GABRG3_ENST00000555083.1_Missense_Mutation_p.A211V|RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	211					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGGAGGCAGCTGACCAGAAA	0.408																																					NSCLC(114;800 1656 7410 37729 45293)	dbGAP											0													46.0	50.0	49.0					15																	27725853		1886	4108	5994	-	-	-	SO:0001583	missense	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.632C>T	15.37:g.27725853C>T	ENSP00000331912:p.Ala211Val	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A211V	ENST00000333743.6	37	c.632	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	18.68	3.674962	0.67928	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.76839	-1.05;-1.05;-1.05	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.224081	0.46145	D	0.000319	T	0.72036	0.3411	N	0.25890	0.77	0.80722	D	1	B;P	0.45283	0.001;0.855	B;P	0.47299	0.056;0.543	T	0.67177	-0.5736	10	0.11182	T	0.66	.	18.466	0.90755	0.0:1.0:0.0:0.0	.	211;211	Q99928;G3V594	GBRG3_HUMAN;.	V	211;211;153	ENSP00000331912:A211V;ENSP00000452244:A211V;ENSP00000451862:A153V	ENSP00000331912:A211V	A	+	2	0	GABRG3	25399448	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	5.738000	0.68613	2.609000	0.88269	0.558000	0.71614	GCT	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000182256		0.408	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	171	0.00	0	C			27725853	27725853	+1	no_errors	ENST00000333743	ensembl	human	known	69_37n	missense	141	29.85	60	SNP	1.000	T
GCAT	23464	genome.wustl.edu	37	22	38206084	38206084	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:38206084G>A	ENST00000248924.6	+	2	303	c.247G>A	c.(247-249)Gag>Aag	p.E83K	GCAT_ENST00000415371.1_Intron|GCAT_ENST00000323205.6_Missense_Mutation_p.E109K	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	83					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CAGCCACCCTGAGGTGATCCA	0.582																																						dbGAP											0													89.0	74.0	79.0					22																	38206084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.247G>A	22.37:g.38206084G>A	ENSP00000248924:p.Glu83Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.E83K	ENST00000248924.6	37	c.247	CCDS13957.1	22	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082572	0.36758	.	.	ENSG00000100116	ENST00000323205;ENST00000248924;ENST00000445195;ENST00000394944	D;D;D	0.90900	-2.75;-2.75;-2.75	5.08	2.98	0.34508	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.291393	0.37136	N	0.002238	D	0.85448	0.5699	L	0.41632	1.29	0.38780	D	0.954753	B;B	0.17667	0.006;0.023	B;B	0.24269	0.021;0.052	T	0.79063	-0.1957	10	0.49607	T	0.09	-17.6586	9.565	0.39394	0.1343:0.2078:0.6579:0.0	.	109;83	E2QC23;O75600	.;KBL_HUMAN	K	109;83;109;109	ENSP00000371110:E109K;ENSP00000248924:E83K;ENSP00000406719:E109K	ENSP00000248924:E83K	E	+	1	0	GCAT	36536030	1.000000	0.71417	0.386000	0.26170	0.804000	0.45430	3.155000	0.50700	0.330000	0.23485	-1.134000	0.01955	GAG	GCAT	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	ENSG00000100116		0.582	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	34	0.00	0	G	NM_014291.2		38206084	38206084	+1	no_errors	ENST00000248924	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	0.705	A
MYZAP	100820829	genome.wustl.edu	37	15	57931737	57931737	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:57931737C>T	ENST00000267853.5	+	10	1207	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	GCOM1_ENST00000380560.2_Silent_p.V302V|GCOM1_ENST00000572390.1_Silent_p.V371V|GCOM1_ENST00000396180.1_Silent_p.V340V|GCOM1_ENST00000380569.2_Silent_p.V371V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000587652.1_Silent_p.V371V|GCOM1_ENST00000380561.2_Silent_p.V340V|GCOM1_ENST00000380568.3_Silent_p.V371V|GCOM1_ENST00000574161.1_Silent_p.V371V|MYZAP_ENST00000380565.4_Silent_p.V371V			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	371					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGCAGATGGTCGAGGAGGTAA	0.552																																						dbGAP											0													86.0	78.0	80.0					15																	57931737		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1113C>T	15.37:g.57931737C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	NULL	p.V371	ENST00000267853.5	37	c.1113	CCDS10162.1	15																																																																																			GCOM1	-	NULL	ENSG00000137878		0.552	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2	40	0.00	0	C	NM_001018100		57931737	57931737	+1	no_errors	ENST00000380569	ensembl	human	known	69_37n	silent	42	30.00	18	SNP	0.954	T
GFAP	2670	genome.wustl.edu	37	17	42990641	42990641	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:42990641G>A	ENST00000253408.5	-	4	841	c.776C>T	c.(775-777)tCc>tTc	p.S259F	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.S259F|GFAP_ENST00000435360.2_Missense_Mutation_p.S259F	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	259	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGCTACCTTGGAGCGGTACCA	0.602																																						dbGAP											0													136.0	118.0	124.0					17																	42990641		2203	4300	6503	-	-	-	SO:0001583	missense	0			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.776C>T	17.37:g.42990641G>A	ENSP00000253408:p.Ser259Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	pfam_F	p.S259F	ENST00000253408.5	37	c.776	CCDS11491.1	17	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579275	0.65878	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.96041	-3.89;-3.89	5.08	5.08	0.68730	Filament (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98982	1.0805	10	0.87932	D	0	.	18.6455	0.91409	0.0:0.0:1.0:0.0	.	259;259	E9PAX3;P14136	.;GFAP_HUMAN	F	259;234;259	ENSP00000253408:S259F;ENSP00000403962:S259F	ENSP00000253408:S259F	S	-	2	0	GFAP	40346167	1.000000	0.71417	0.998000	0.56505	0.115000	0.19883	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	TCC	GFAP	-	pfam_F	ENSG00000131095		0.602	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	HGNC	protein_coding	OTTHUMT00000448701.1	75	0.00	0	G	NM_002055		42990641	42990641	-1	no_errors	ENST00000253408	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	A
GFPT1	2673	genome.wustl.edu	37	2	69601147	69601147	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:69601147C>A	ENST00000357308.4	-	2	284	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.D36Y|GFPT1_ENST00000494201.1_5'UTR	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	36	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCAGCAGAATCATATCCTCTG	0.343																																						dbGAP											0													86.0	87.0	87.0					2																	69601147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.106G>T	2.37:g.69601147C>A	ENSP00000349860:p.Asp36Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D36Y	ENST00000357308.4	37	c.106	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633025	0.87660	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	D;D	0.85484	-1.99;-1.99	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97047	0.9761	10	0.87932	D	0	-21.3345	17.3838	0.87411	0.0:1.0:0.0:0.0	.	36	Q06210-2	.	Y	36	ENSP00000349860:D36Y;ENSP00000354347:D36Y	ENSP00000349860:D36Y	D	-	1	0	GFPT1	69454651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.279000	0.78599	2.684000	0.91462	0.655000	0.94253	GAT	GFPT1	-	pfam_GATase_dom	ENSG00000198380		0.343	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		279	0.00	0	C			69601147	69601147	-1	no_errors	ENST00000357308	ensembl	human	known	69_37n	missense	426	18.55	97	SNP	1.000	A
GOLGA3	2802	genome.wustl.edu	37	12	133384794	133384794	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:133384794G>A	ENST00000450791.2	-	4	1044	c.861C>T	c.(859-861)atC>atT	p.I287I	GOLGA3_ENST00000545875.1_Silent_p.I287I|GOLGA3_ENST00000204726.3_Silent_p.I287I|GOLGA3_ENST00000456883.2_Silent_p.I287I|GOLGA3_ENST00000537452.1_Silent_p.I287I			Q08378	GOGA3_HUMAN	golgin A3	287					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGGACAGGCTGATCTCAGACA	0.577																																						dbGAP											0													118.0	120.0	119.0					12																	133384794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.861C>T	12.37:g.133384794G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.I287	ENST00000450791.2	37	c.861	CCDS9281.1	12																																																																																			GOLGA3	-	NULL	ENSG00000090615		0.577	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	68	0.00	0	G	NM_005895		133384794	133384794	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	silent	46	39.47	30	SNP	0.998	A
GON4L	54856	genome.wustl.edu	37	1	155785664	155785664	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:155785664C>G	ENST00000368331.1	-	8	1141	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	GON4L_ENST00000437809.1_Missense_Mutation_p.E365Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E365Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E365Q|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	365					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)					TCATCTTCTTCAAGGTGGATA	0.368																																						dbGAP											0													90.0	82.0	85.0					1																	155785664		2203	4300	6503	-	-	-	SO:0001583	missense	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.1093G>C	1.37:g.155785664C>G	ENSP00000357315:p.Glu365Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E365Q	ENST00000368331.1	37	c.1093		1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088232	0.76756	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12465	2.89;2.88;2.89;2.68	5.28	5.28	0.74379	.	0.131508	0.51477	D	0.000095	T	0.22627	0.0546	L	0.49350	1.555	0.35580	D	0.806207	P;D;P;D;D	0.89917	0.865;1.0;0.927;0.999;1.0	B;D;P;D;D	0.85130	0.391;0.997;0.618;0.994;0.997	T	0.00824	-1.1551	10	0.35671	T	0.21	.	17.0435	0.86496	0.0:1.0:0.0:0.0	.	59;365;365;365;365	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	Q	365	ENSP00000396117:E365Q;ENSP00000357315:E365Q;ENSP00000271883:E365Q;ENSP00000354322:E365Q	ENSP00000271883:E365Q	E	-	1	0	GON4L	154052288	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.253000	0.78320	2.617000	0.88574	0.655000	0.94253	GAA	GON4L	-	NULL	ENSG00000116580		0.368	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		63	0.00	0	C	NM_032292		155785664	155785664	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	161	10.56	19	SNP	1.000	G
GPR125	166647	genome.wustl.edu	37	4	22390354	22390354	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:22390354C>T	ENST00000334304.5	-	19	3209	c.2940G>A	c.(2938-2940)ctG>ctA	p.L980L	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	980					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATGTAGAAATCAGAGACAAAG	0.448																																						dbGAP											0													101.0	101.0	101.0					4																	22390354		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2940G>A	4.37:g.22390354C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.L980	ENST00000334304.5	37	c.2940	CCDS33964.1	4																																																																																			GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	315	0.00	0	C			22390354	22390354	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	silent	200	22.78	59	SNP	0.991	T
GPR155	151556	genome.wustl.edu	37	2	175337813	175337813	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:175337813C>T	ENST00000392552.2	-	3	978	c.740G>A	c.(739-741)gGa>gAa	p.G247E	GPR155_ENST00000392551.2_Missense_Mutation_p.G247E|GPR155_ENST00000295500.4_Missense_Mutation_p.G247E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	247					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATTTCCAAGTCCATCAAGAAA	0.358																																						dbGAP											0													66.0	69.0	68.0					2																	175337813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.740G>A	2.37:g.175337813C>T	ENSP00000376335:p.Gly247Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.G247E	ENST00000392552.2	37	c.740	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596110	0.86953	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.44881	0.91;0.91;0.91	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57165	-0.7858	10	0.30078	T	0.28	-12.0401	19.4842	0.95022	0.0:1.0:0.0:0.0	.	247	Q7Z3F1	GP155_HUMAN	E	247	ENSP00000376335:G247E;ENSP00000376334:G247E;ENSP00000295500:G247E	ENSP00000295500:G247E	G	-	2	0	GPR155	175046059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.577000	0.86979	0.655000	0.94253	GGA	GPR155	-	pfam_Auxin_eff	ENSG00000163328		0.358	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	180	0.00	0	C	NM_152529		175337813	175337813	-1	no_errors	ENST00000295500	ensembl	human	known	69_37n	missense	151	31.98	71	SNP	1.000	T
C5AR2	27202	genome.wustl.edu	37	19	47845056	47845056	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:47845056G>A	ENST00000595464.1	+	2	1218	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	C5AR2_ENST00000600626.1_Missense_Mutation_p.E334K|C5AR2_ENST00000257267.2_Missense_Mutation_p.E334K	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	334					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCTGGTCTCGGAGATGGAGGT	0.552																																						dbGAP											0													52.0	40.0	44.0					19																	47845056		2195	4289	6484	-	-	-	SO:0001583	missense	0			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.1000G>A	19.37:g.47845056G>A	ENSP00000472620:p.Glu334Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA09	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.E334K	ENST00000595464.1	37	c.1000	CCDS12699.1	19	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116709	0.37339	.	.	ENSG00000134830	ENST00000257267	T	0.48522	0.81	3.86	3.86	0.44501	.	1.614390	0.03541	U	0.223960	T	0.40171	0.1106	L	0.32530	0.975	0.41902	D	0.990423	B	0.18013	0.025	B	0.15052	0.012	T	0.07597	-1.0764	10	0.14656	T	0.56	.	11.4837	0.50342	0.0:0.0:1.0:0.0	.	334	Q9P296	C5ARL_HUMAN	K	334	ENSP00000257267:E334K	ENSP00000257267:E334K	E	+	1	0	GPR77	52536896	0.986000	0.35501	0.130000	0.21974	0.421000	0.31385	3.159000	0.50731	2.146000	0.66826	0.313000	0.20887	GAG	GPR77	-	NULL	ENSG00000134830		0.552	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	19	0.00	0	G	NM_018485		47845056	47845056	+1	no_errors	ENST00000257267	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.963	A
GPR98	84059	genome.wustl.edu	37	5	90079129	90079129	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:90079129G>A	ENST00000405460.2	+	66	13516	c.13420G>A	c.(13420-13422)Gat>Aat	p.D4474N	GPR98_ENST00000425867.2_Missense_Mutation_p.D135N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4474	Calx-beta 30. {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)		CTCCATCATTGATGACAATGA	0.368																																						dbGAP											0													42.0	40.0	41.0					5																	90079129		1842	4088	5930	-	-	-	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.13420G>A	5.37:g.90079129G>A	ENSP00000384582:p.Asp4474Asn	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.D4474N	ENST00000405460.2	37	c.13420	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663236	0.88251	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.34275	1.37;1.37	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.80422	2.495	0.46061	D	0.998847	P;D;P	0.76494	0.751;0.999;0.707	B;D;B	0.75020	0.399;0.985;0.278	T	0.63576	-0.6606	10	0.59425	D	0.04	.	15.8933	0.79318	0.0658:0.0:0.9342:0.0	.	135;4474;135	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	4474;4474;135	ENSP00000384582:D4474N;ENSP00000392618:D135N	ENSP00000296619:D4474N	D	+	1	0	GPR98	90114885	1.000000	0.71417	0.989000	0.46669	0.745000	0.42441	5.457000	0.66672	2.941000	0.99782	0.655000	0.94253	GAT	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	180	0.00	0	G	NM_032119		90079129	90079129	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	220	25.42	75	SNP	1.000	A
GRAMD1A	57655	genome.wustl.edu	37	19	35512464	35512464	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:35512464G>A	ENST00000317991.5	+	14	1726	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E505K|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.E599K|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.E278K	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	512						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCGCTCATTGAGAAGAACTC	0.587																																						dbGAP											0													72.0	75.0	74.0					19																	35512464		1956	4128	6084	-	-	-	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1534G>A	19.37:g.35512464G>A	ENSP00000441032:p.Glu512Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E512K	ENST00000317991.5	37	c.1534	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.153390	0.94645	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.22336	1.96;1.96;1.96	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	T	0.49218	0.1544	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.998;1.0	D;D;D;D	0.91635	0.999;0.968;0.994;0.999	T	0.56944	-0.7895	10	0.87932	D	0	.	14.3583	0.66752	0.0:0.0:1.0:0.0	.	512;512;278;505	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	K	598;278;512;505	ENSP00000423728:E278K;ENSP00000441032:E512K;ENSP00000439267:E505K	ENSP00000441032:E512K	E	+	1	0	GRAMD1A	40204304	1.000000	0.71417	0.941000	0.38009	0.985000	0.73830	9.192000	0.94947	2.255000	0.74692	0.491000	0.48974	GAG	GRAMD1A	-	NULL	ENSG00000089351		0.587	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	49	0.00	0	G	NM_020895		35512464	35512464	+1	no_errors	ENST00000317991	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	A
GRIA1	2890	genome.wustl.edu	37	5	153190725	153190725	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:153190725G>A	ENST00000285900.5	+	16	3004	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	GRIA1_ENST00000518783.1_Missense_Mutation_p.M897I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M807I|GRIA1_ENST00000448073.4_Missense_Mutation_p.M897I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M887I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCAAGTCCATGCAATCGATTC	0.622																																						dbGAP											0													60.0	57.0	58.0					5																	153190725		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2661G>A	5.37:g.153190725G>A	ENSP00000285900:p.Met887Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	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.M897I	ENST00000285900.5	37	c.2691	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535889	0.45176	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.03	5.03	0.67393	.	0.044281	0.85682	D	0.000000	T	0.47116	0.1428	N	0.14661	0.345	0.49389	D	0.999789	B;B;B;B;B	0.22480	0.042;0.042;0.053;0.07;0.001	B;B;B;B;B	0.15484	0.006;0.006;0.008;0.013;0.002	T	0.40478	-0.9561	10	0.40728	T	0.16	.	17.3487	0.87316	0.0:0.0:1.0:0.0	.	897;897;807;887;887	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	887;887;807;887;820;818;897;897	ENSP00000285900:M887I;ENSP00000427920:M807I;ENSP00000339343:M887I;ENSP00000427864:M820I;ENSP00000442108:M818I;ENSP00000428994:M897I;ENSP00000415569:M897I	ENSP00000285900:M887I	M	+	3	0	GRIA1	153170918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.777000	0.68931	2.330000	0.79161	0.561000	0.74099	ATG	GRIA1	-	NULL	ENSG00000155511		0.622	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	82	0.00	0	G			153190725	153190725	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	missense	79	24.53	26	SNP	1.000	A
GRIK2	2898	genome.wustl.edu	37	6	102124591	102124591	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:102124591A>G	ENST00000421544.1	+	4	1125	c.635A>G	c.(634-636)aAa>aGa	p.K212R	GRIK2_ENST00000369138.1_Missense_Mutation_p.K212R|GRIK2_ENST00000318991.6_Missense_Mutation_p.K212R|GRIK2_ENST00000369137.3_Missense_Mutation_p.K212R|GRIK2_ENST00000369134.4_Missense_Mutation_p.K163R|GRIK2_ENST00000413795.1_Missense_Mutation_p.K212R|GRIK2_ENST00000358361.3_Missense_Mutation_p.K212R	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	212					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)			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)	AAGGATGCAAAACCCTTACTA	0.368																																						dbGAP											0													74.0	75.0	75.0					6																	102124591		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.635A>G	6.37:g.102124591A>G	ENSP00000397026:p.Lys212Arg	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.K212R	ENST00000421544.1	37	c.635	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	7.443	0.641078	0.14386	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	N	0.00337	-1.62	0.39575	D	0.969341	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.004;0.007;0.004	T	0.51593	-0.8686	10	0.02654	T	1	.	15.9266	0.79621	1.0:0.0:0.0:0.0	.	212;212;212	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	R	212;212;212;212;212;212;212;163;174	ENSP00000397026:K212R;ENSP00000405596:K212R;ENSP00000358134:K212R;ENSP00000351128:K212R;ENSP00000358133:K212R;ENSP00000313276:K212R;ENSP00000358130:K163R	ENSP00000313276:K212R	K	+	2	0	GRIK2	102231284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.282000	0.72639	2.179000	0.69175	0.477000	0.44152	AAA	GRIK2	-	pfam_ANF_lig-bd_rcpt	ENSG00000164418		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	154	0.00	0	A			102124591	102124591	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	124	27.49	47	SNP	1.000	G
HTT	3064	genome.wustl.edu	37	4	3134377	3134377	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:3134377C>T	ENST00000355072.5	+	17	2470	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	775					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGGACCCTCATCTGCTCCA	0.512																																						dbGAP											0													106.0	108.0	107.0					4																	3134377		1997	4179	6176	-	-	-	SO:0001819	synonymous_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2325C>T	4.37:g.3134377C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQB7	Silent	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L775	ENST00000355072.5	37	c.2325	CCDS43206.1	4																																																																																			HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	226	0.00	0	C	NM_002111		3134377	3134377	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	silent	118	44.34	94	SNP	0.000	T
IFNK	56832	genome.wustl.edu	37	9	27524397	27524397	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:27524397C>A	ENST00000276943.2	+	1	86	c.63C>A	c.(61-63)ttC>ttA	p.F21L	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	21					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TGGGTATATTCATTGCTGGCA	0.393																																						dbGAP											0													94.0	91.0	92.0					9																	27524397		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.63C>A	9.37:g.27524397C>A	ENSP00000276943:p.Phe21Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T166	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.F21L	ENST00000276943.2	37	c.63	CCDS6521.1	9	.	.	.	.	.	.	.	.	.	.	c	6.829	0.522125	0.13066	.	.	ENSG00000147896	ENST00000276943	T	0.03272	3.99	5.52	-0.54	0.11861	.	0.921599	0.09239	N	0.829528	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46048	-0.9219	10	0.52906	T	0.07	-1.6692	2.3022	0.04165	0.1255:0.4701:0.1372:0.2672	.	21	Q9P0W0	IFNK_HUMAN	L	21	ENSP00000276943:F21L	ENSP00000276943:F21L	F	+	3	2	IFNK	27514397	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.115000	0.10741	-0.012000	0.14223	-0.226000	0.12346	TTC	IFNK	-	pfam_Interferon_alpha/beta/delta	ENSG00000147896		0.393	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNK	HGNC	protein_coding	OTTHUMT00000051968.1	151	0.00	0	C	NM_020124		27524397	27524397	+1	no_errors	ENST00000276943	ensembl	human	known	69_37n	missense	125	22.84	37	SNP	0.000	A
IFT172	26160	genome.wustl.edu	37	2	27672946	27672946	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:27672946G>C	ENST00000260570.3	-	36	4072	c.3969C>G	c.(3967-3969)atC>atG	p.I1323M		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1323					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCAGAAACTTGATGGAGAGTT	0.468																																						dbGAP											0													120.0	104.0	109.0					2																	27672946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3969C>G	2.37:g.27672946G>C	ENSP00000260570:p.Ile1323Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.I1323M	ENST00000260570.3	37	c.3969	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112335	0.20795	.	.	ENSG00000138002	ENST00000260570	T	0.76186	-1.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	N	0.21097	0.63	0.80722	D	1	B	0.27117	0.168	B	0.23275	0.045	T	0.58047	-0.7705	10	0.36615	T	0.2	-14.1842	12.6254	0.56626	0.0804:0.0:0.9196:0.0	.	1323	Q9UG01	IF172_HUMAN	M	1323	ENSP00000260570:I1323M	ENSP00000260570:I1323M	I	-	3	3	IFT172	27526450	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.232000	0.43018	2.657000	0.90304	0.491000	0.48974	ATC	IFT172	-	NULL	ENSG00000138002		0.468	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	130	0.00	0	G	NM_015662		27672946	27672946	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	73	31.78	34	SNP	1.000	C
IGHV3-53	28420	genome.wustl.edu	37	14	107048827	107048827	+	RNA	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:107048827C>G	ENST00000390627.2	-	0	413									immunoglobulin heavy variable 3-53																		GAGACCCACTCCAGCCCCTTC	0.572																																						dbGAP											0													144.0	166.0	159.0					14																	107048827		2119	4265	6384	-	-	-			0			M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048827C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E65Q	ENST00000390627.2	37	c.193		14																																																																																			IGHV3-53	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211967		0.572	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-53	HGNC	IG_V_gene	OTTHUMT00000324612.1	643	0.16	1	C	NG_001019		107048827	107048827	-1	no_stop_codon	ENST00000390627	ensembl	human	known	69_37n	missense	713	13.77	114	SNP	0.998	G
IGKV3D-20	28874	genome.wustl.edu	37	2	90077821	90077821	+	RNA	SNP	C	C	G	rs368398494		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:90077821C>G	ENST00000390270.2	+	0	142									immunoglobulin kappa variable 3D-20																		TACTCTGGCTCCCAGGTGAGG	0.517																																						dbGAP											0													88.0	94.0	92.0					2																	90077821		1811	4062	5873	-	-	-			0			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90077821C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L15	ENST00000390270.2	37	c.45		2																																																																																			IGKV3D-20	-	NULL	ENSG00000211625		0.517	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-20	HGNC	IG_V_gene	OTTHUMT00000323287.1	229	0.00	0	C	NG_000833		90077821	90077821	+1	no_stop_codon	ENST00000390270	ensembl	human	known	69_37n	silent	197	24.23	63	SNP	0.948	G
IGKV3D-15	28875	genome.wustl.edu	37	2	90153988	90153988	+	RNA	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:90153988G>A	ENST00000417279.2	+	0	124									immunoglobulin kappa variable 3D-15 (gene/pseudogene)																		TAGTGATGACGCAGTCTCCAG	0.468																																						dbGAP											0													1.0	1.0	1.0					2																	90153988		552	1499	2051	-	-	-			0			X72815		2p11.2	2012-02-08	2008-09-12		ENSG00000224041	ENSG00000224041		"""Immunoglobulins / IGK locus"""	5824	other	immunoglobulin gene			"""immunoglobulin kappa variable 3D-15"""				Standard	NG_000833		Approved				OTTHUMG00000151568		2.37:g.90153988G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T25	ENST00000417279.2	37	c.75		2																																																																																			IGKV3D-15	-	pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like	ENSG00000224041		0.468	IGKV3D-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-15	HGNC	IG_V_gene	OTTHUMT00000323143.2	70	0.00	0	G	NG_000833		90153988	90153988	+1	no_stop_codon	ENST00000417279	ensembl	human	known	69_37n	silent	66	25.00	22	SNP	0.999	A
IKBKAP	8518	genome.wustl.edu	37	9	111668605	111668605	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:111668605C>T	ENST00000374647.5	-	14	1928	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K	IKBKAP_ENST00000537196.1_Missense_Mutation_p.E192K	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	541					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTCCATGCTCTTCATCCATC	0.438																																						dbGAP											0													142.0	118.0	126.0					9																	111668605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1621G>A	9.37:g.111668605C>T	ENSP00000363779:p.Glu541Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.E541K	ENST00000374647.5	37	c.1621	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	5.283	0.237619	0.10023	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26518	1.73;1.73	5.6	1.65	0.23941	.	0.414461	0.24843	N	0.035148	T	0.12860	0.0312	L	0.28400	0.85	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.34279	-0.9835	10	0.06494	T	0.89	-8.2725	5.6212	0.17457	0.0:0.6049:0.1465:0.2487	.	541	O95163	ELP1_HUMAN	K	541;192	ENSP00000363779:E541K;ENSP00000439367:E192K	ENSP00000363779:E541K	E	-	1	0	IKBKAP	110708426	0.183000	0.23186	0.035000	0.18076	0.500000	0.33767	0.364000	0.20325	0.406000	0.25560	0.637000	0.83480	GAG	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.438	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	285	0.00	0	C			111668605	111668605	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	314	29.12	129	SNP	0.004	T
IKBKAP	8518	genome.wustl.edu	37	9	111670591	111670591	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:111670591C>T	ENST00000374647.5	-	13	1761	c.1454G>A	c.(1453-1455)aGa>aAa	p.R485K	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R136K	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	485					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTACTTGTATCTCTTTTCCAA	0.438																																						dbGAP											0													69.0	67.0	67.0					9																	111670591		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1454G>A	9.37:g.111670591C>T	ENSP00000363779:p.Arg485Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R485K	ENST00000374647.5	37	c.1454	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	9.749	1.166996	0.21621	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.25579	1.79;1.79	5.56	3.52	0.40303	.	0.399532	0.30036	N	0.010568	T	0.10766	0.0263	N	0.16166	0.38	0.24686	N	0.993333	B	0.06786	0.001	B	0.12156	0.007	T	0.35025	-0.9805	10	0.05525	T	0.97	-14.8305	5.9992	0.19511	0.1647:0.6586:0.0:0.1767	.	485	O95163	ELP1_HUMAN	K	485;136	ENSP00000363779:R485K;ENSP00000439367:R136K	ENSP00000363779:R485K	R	-	2	0	IKBKAP	110710412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.461000	0.21940	1.337000	0.45525	0.655000	0.94253	AGA	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.438	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	113	0.00	0	C			111670591	111670591	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	145	22.87	43	SNP	1.000	T
IMPACT	55364	genome.wustl.edu	37	18	22007922	22007922	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr18:22007922G>C	ENST00000284202.4	+	2	217	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	26	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TTATGGCGAGGAGTGGTGTGT	0.358																																						dbGAP											0													142.0	145.0	144.0					18																	22007922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.76G>C	18.37:g.22007922G>C	ENSP00000284202:p.Glu26Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.E26Q	ENST00000284202.4	37	c.76	CCDS11886.1	18	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421742	0.43020	.	.	ENSG00000154059	ENST00000284202	T	0.25250	1.81	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.101474	0.64402	D	0.000003	T	0.51295	0.1666	M	0.86028	2.79	0.51767	D	0.99993	D	0.61080	0.989	P	0.59643	0.861	T	0.51403	-0.8710	10	0.27785	T	0.31	.	17.7852	0.88535	0.0:0.0:1.0:0.0	.	26	Q9P2X3	IMPCT_HUMAN	Q	26	ENSP00000284202:E26Q	ENSP00000284202:E26Q	E	+	1	0	IMPACT	20261920	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.985000	0.88162	2.557000	0.86248	0.455000	0.32223	GAG	IMPACT	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000154059		0.358	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPACT	HGNC	protein_coding	OTTHUMT00000254901.1	250	0.00	0	G	NM_018439		22007922	22007922	+1	no_errors	ENST00000284202	ensembl	human	known	69_37n	missense	123	24.70	41	SNP	1.000	C
INADL	10207	genome.wustl.edu	37	1	62321852	62321852	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:62321852G>A	ENST00000371158.2	+	18	2377	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	INADL_ENST00000316485.6_Missense_Mutation_p.E755K	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	755	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAAGCTGTGGAAATATTGAA	0.443																																						dbGAP											0													169.0	149.0	156.0					1																	62321852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2263G>A	1.37:g.62321852G>A	ENSP00000360200:p.Glu755Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E755K	ENST00000371158.2	37	c.2263	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464601	0.63513	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.17370	2.28;2.28	5.3	5.3	0.74995	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.18341	0.0440	L	0.41573	1.285	0.80722	D	1	P;P;P	0.44044	0.825;0.477;0.825	B;B;B	0.41946	0.321;0.371;0.321	T	0.00792	-1.1564	10	0.66056	D	0.02	.	14.8787	0.70516	0.0:0.1432:0.8568:0.0	.	755;755;755	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	K	755	ENSP00000360200:E755K;ENSP00000326199:E755K	ENSP00000255202:E755K	E	+	1	0	INADL	62094440	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	4.301000	0.59086	2.638000	0.89438	0.462000	0.41574	GAA	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	246	0.00	0	G	NM_170605		62321852	62321852	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	missense	575	26.66	209	SNP	1.000	A
INADL	10207	genome.wustl.edu	37	1	62330295	62330295	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:62330295C>G	ENST00000371158.2	+	20	2939	c.2825C>G	c.(2824-2826)cCt>cGt	p.P942R	INADL_ENST00000316485.6_Missense_Mutation_p.P942R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	942					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGCTATTGCCCTGAAAATGTG	0.483																																						dbGAP											0													61.0	66.0	65.0					1																	62330295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2825C>G	1.37:g.62330295C>G	ENSP00000360200:p.Pro942Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P942R	ENST00000371158.2	37	c.2825	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	6.864	0.528793	0.13127	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.11495	2.9;2.77	4.01	3.01	0.34805	.	1.136520	0.06845	N	0.796289	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.29088	-1.0023	10	0.09338	T	0.73	.	12.1113	0.53840	0.0:0.767:0.233:0.0	.	942;942;942	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	R	942	ENSP00000360200:P942R;ENSP00000326199:P942R	ENSP00000255202:P942R	P	+	2	0	INADL	62102883	0.000000	0.05858	0.006000	0.13384	0.526000	0.34562	0.542000	0.23222	2.233000	0.73108	0.555000	0.69702	CCT	INADL	-	NULL	ENSG00000132849		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	160	0.00	0	C	NM_170605		62330295	62330295	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	missense	425	12.73	62	SNP	0.001	G
ITGAX	3687	genome.wustl.edu	37	16	31374515	31374515	+	Silent	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:31374515C>G	ENST00000268296.4	+	14	1651	c.1530C>G	c.(1528-1530)ctC>ctG	p.L510L	ITGAX_ENST00000562522.1_Silent_p.L510L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	510					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGCTGTTCTCTACGGGGAGC	0.642																																						dbGAP											0													101.0	108.0	105.0					16																	31374515		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1530C>G	16.37:g.31374515C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	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,prints_Integrin_alpha,pfscan_VWF_A	p.L510	ENST00000268296.4	37	c.1530	CCDS10711.1	16																																																																																			ITGAX	-	smart_Int_alpha_beta-p	ENSG00000140678		0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	56	0.00	0	C	NM_000887		31374515	31374515	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	silent	58	21.62	16	SNP	0.927	G
ITGB5	3693	genome.wustl.edu	37	3	124560333	124560333	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:124560333C>G	ENST00000296181.4	-	5	973	c.677G>C	c.(676-678)aGa>aCa	p.R226T		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	226	VWFA.				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-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCTGTCCACTCTGTCTGTGAG	0.537																																						dbGAP											0													75.0	65.0	68.0					3																	124560333		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.677G>C	3.37:g.124560333C>G	ENSP00000296181:p.Arg226Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.R226T	ENST00000296181.4	37	c.677	CCDS3030.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.991272|2.991272	0.54041|0.54041	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|D	.|0.97598	.|-4.45	5.65|5.65	2.74|2.74	0.32292|0.32292	.|Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.|0.140274	.|0.64402	.|D	.|0.000005	D|D	0.92893|0.92893	0.7739|0.7739	L|L	0.40543|0.40543	1.245|1.245	0.37988|0.37988	D|D	0.933812|0.933812	.|P	.|0.37594	.|0.601	.|B	.|0.36608	.|0.229	D|D	0.90536|0.90536	0.4499|0.4499	5|10	.|0.49607	.|T	.|0.09	.|.	5.3434|5.3434	0.15996|0.15996	0.0:0.5303:0.0:0.4697|0.0:0.5303:0.0:0.4697	.|.	.|226	.|P18084	.|ITB5_HUMAN	H|T	22|226	.|ENSP00000296181:R226T	.|ENSP00000296181:R226T	Q|R	-|-	3|2	2|0	ITGB5|ITGB5	126043023|126043023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.054000|4.054000	0.57434|0.57434	0.952000|0.952000	0.37798|0.37798	-0.137000|-0.137000	0.14449|0.14449	CAG|AGA	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	ENSG00000082781		0.537	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	97	0.00	0	C	NM_002213		124560333	124560333	-1	no_errors	ENST00000296181	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	1.000	G
KANSL3	55683	genome.wustl.edu	37	2	97279281	97279281	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:97279281G>C	ENST00000431828.1	-	6	815	c.739C>G	c.(739-741)Ctc>Gtc	p.L247V	KANSL3_ENST00000440133.1_Missense_Mutation_p.L41V|KANSL3_ENST00000441706.2_Missense_Mutation_p.L160V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.L160V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	247					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTCAGTAGGAGAGACAAGGCC	0.473																																						dbGAP											0													90.0	93.0	92.0					2																	97279281		1938	4147	6085	-	-	-	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.739C>G	2.37:g.97279281G>C	ENSP00000396749:p.Leu247Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	NULL	p.L247V	ENST00000431828.1	37	c.739	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740523	0.69304	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075;ENST00000418735	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.65	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.996	D;D;D;D	0.83275	0.991;0.994;0.996;0.994	T	0.59679	-0.7409	10	0.52906	T	0.07	.	8.3947	0.32550	0.1738:0.0:0.8262:0.0	.	41;247;160;135	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	V	160;135;247;160;41;41;160;41;41	ENSP00000396749:L247V;ENSP00000400678:L160V;ENSP00000406207:L41V;ENSP00000405988:L41V	ENSP00000346144:L160V	L	-	1	0	KIAA1310	96643008	1.000000	0.71417	0.815000	0.32552	0.993000	0.82548	6.702000	0.74628	1.390000	0.46547	0.467000	0.42956	CTC	KANSL3	-	NULL	ENSG00000114982		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	224	0.00	0	G	NM_017991		97279281	97279281	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	missense	238	29.17	98	SNP	1.000	C
KCNH6	81033	genome.wustl.edu	37	17	61622443	61622443	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:61622443G>C	ENST00000583023.1	+	13	2520	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	KCNH6_ENST00000314672.5_Missense_Mutation_p.E801Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.E748Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.E748Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	837					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGCAGGCTGGAGTCCCGCGT	0.607																																						dbGAP											0													86.0	87.0	87.0					17																	61622443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2509G>C	17.37:g.61622443G>C	ENSP00000463533:p.Glu837Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.E837Q	ENST00000583023.1	37	c.2509	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847877	0.91277	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.91295	-2.82	5.32	5.32	0.75619	RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.94398	0.8198	M	0.61703	1.905	0.51233	D	0.999916	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;P;D;D	0.87578	0.96;0.867;0.961;0.998	D	0.93246	0.6630	10	0.39692	T	0.17	.	18.1548	0.89687	0.0:0.0:1.0:0.0	.	678;801;748;837	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	Q	837;748	ENSP00000396900:E748Q	ENSP00000318212:E837Q	E	+	1	0	KCNH6	58976175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.151000	0.94674	2.769000	0.95229	0.561000	0.74099	GAG	KCNH6	-	NULL	ENSG00000173826		0.607	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	50	0.00	0	G	NM_030779		61622443	61622443	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	C
KIAA0368	23392	genome.wustl.edu	37	9	114156470	114156470	+	Silent	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:114156470G>C	ENST00000338205.5	-	25	3111	c.2892C>G	c.(2890-2892)gtC>gtG	p.V964V	KIAA0368_ENST00000259335.4_Silent_p.V1142V|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	970					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.V1142V(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTAGCTTCCTGACAAGGGAAA	0.463																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											59.0	59.0	59.0					9																	114156470		1975	4173	6148	-	-	-	SO:0001819	synonymous_variant	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2892C>G	9.37:g.114156470G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.V1142	ENST00000338205.5	37	c.3426		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.463	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	48	0.00	0	G	NM_014686		114156470	114156470	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	silent	75	18.48	17	SNP	1.000	C
CEP162	22832	genome.wustl.edu	37	6	84871614	84871614	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:84871614C>T	ENST00000403245.3	-	20	2641	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E767K|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATTTTTATTTCATATAATTTC	0.284																																						dbGAP											0													50.0	49.0	49.0					6																	84871614		2199	4293	6492	-	-	-	SO:0001583	missense	0																														ENST00000403245.3:c.2527G>A	6.37:g.84871614C>T	ENSP00000385215:p.Glu843Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E843K	ENST00000403245.3	37	c.2527	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971986	0.53614	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32272	1.46;1.46	5.2	3.38	0.38709	.	0.160352	0.44097	D	0.000481	T	0.11153	0.0272	L	0.37850	1.14	0.41821	D	0.990027	B	0.20671	0.047	B	0.23419	0.046	T	0.04885	-1.0920	10	0.31617	T	0.26	-15.8569	9.8108	0.40822	0.0:0.7808:0.1421:0.0772	.	843	Q5TB80	QN1_HUMAN	K	767;843	ENSP00000257766:E767K;ENSP00000385215:E843K	ENSP00000257766:E767K	E	-	1	0	KIAA1009	84928333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.355000	0.59424	1.313000	0.45069	0.655000	0.94253	GAA	KIAA1009	-	NULL	ENSG00000135315		0.284	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	128	0.00	0	C			84871614	84871614	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	missense	114	25.49	39	SNP	1.000	T
KLK6	5653	genome.wustl.edu	37	19	51466645	51466645	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:51466645C>T	ENST00000376851.3	-	4	797	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	KLK6_ENST00000391808.1_Missense_Mutation_p.E13K|KLK6_ENST00000376853.4_Intron|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.E120K|KLK6_ENST00000594641.1_Missense_Mutation_p.E120K|KLK6_ENST00000456750.2_Missense_Mutation_p.E13K	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	120	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGATGAGTTCAGAGAGTTTG	0.602																																						dbGAP											0													92.0	62.0	72.0					19																	51466645		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.358G>A	19.37:g.51466645C>T	ENSP00000366047:p.Glu120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.E120K	ENST00000376851.3	37	c.358	CCDS12811.1	19	.	.	.	.	.	.	.	.	.	.	N	9.626	1.135210	0.21123	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	4.27	-1.52	0.08637	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840220	0.09952	N	0.734570	T	0.81597	0.4856	N	0.13299	0.325	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.67810	-0.5574	10	0.08381	T	0.77	.	4.7351	0.12984	0.1356:0.2329:0.5305:0.1009	.	120;13	Q92876;Q92876-2	KLK6_HUMAN;.	K	120;120;13;13	ENSP00000309148:E120K;ENSP00000366047:E120K;ENSP00000375684:E13K;ENSP00000409241:E13K	ENSP00000309148:E120K	E	-	1	0	KLK6	56158457	0.000000	0.05858	0.003000	0.11579	0.897000	0.52465	-1.330000	0.02675	0.030000	0.15379	0.486000	0.48141	GAA	KLK6	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167755		0.602	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLK6	HGNC	protein_coding	OTTHUMT00000465060.1	43	0.00	0	C	NM_002774		51466645	51466645	-1	no_errors	ENST00000310157	ensembl	human	known	69_37n	missense	52	31.58	24	SNP	0.000	T
KLK12	43849	genome.wustl.edu	37	19	51532698	51532698	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:51532698G>A	ENST00000525263.1	-	5	726	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	KLK12_ENST00000250351.4_Missense_Mutation_p.P203S|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000594768.1_5'Flank|KLK11_ENST00000319720.7_5'Flank|KLK11_ENST00000600362.1_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.P203S|KLK11_ENST00000453757.3_5'Flank|KLK12_ENST00000250352.11_Missense_Mutation_p.P93S|KLK12_ENST00000529888.1_3'UTR|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	203	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CACACCAGGGGGCCCCCAGAA	0.557																																						dbGAP											0													45.0	51.0	49.0					19																	51532698		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.607C>T	19.37:g.51532698G>A	ENSP00000436458:p.Pro203Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.P203S	ENST00000525263.1	37	c.607	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	g	19.71	3.877656	0.72294	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;T;D	0.98633	-5.04;-5.04;-0.41;-5.04	4.35	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36555	N	0.002523	D	0.99330	0.9765	H	0.94385	3.53	0.43555	D	0.995865	D;D;D;D	0.89917	0.977;1.0;1.0;1.0	D;D;D;D	0.91635	0.951;0.994;0.999;0.996	D	0.98523	1.0624	10	0.87932	D	0	.	14.7344	0.69406	0.0:0.0:1.0:0.0	.	93;93;203;203	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	S	203;203;93;203	ENSP00000436458:P203S;ENSP00000324181:P203S;ENSP00000250352:P93S;ENSP00000250351:P203S	ENSP00000250351:P203S	P	-	1	0	KLK12	56224510	1.000000	0.71417	0.954000	0.39281	0.826000	0.46750	7.510000	0.81708	2.436000	0.82500	0.561000	0.74099	CCC	KLK12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000186474		0.557	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	192	0.00	0	G	NM_019598		51532698	51532698	-1	no_errors	ENST00000250351	ensembl	human	known	69_37n	missense	113	13.08	17	SNP	0.982	A
KLRK1	22914	genome.wustl.edu	37	12	10531194	10531194	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:10531194G>C	ENST00000240618.6	-	6	528	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.Q130E|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTGGCATTTTGAGACATACAA	0.368																																						dbGAP											0													92.0	96.0	95.0					12																	10531194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.388C>G	12.37:g.10531194G>C	ENSP00000240618:p.Gln130Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q130E	ENST00000240618.6	37	c.388	CCDS8623.1	12	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725095	0.30593	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.30448	1.53;1.53	5.96	3.11	0.35812	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.643454	0.14663	N	0.305819	T	0.41351	0.1155	L	0.47716	1.5	0.09310	N	1	D;D	0.67145	0.996;0.976	D;P	0.67382	0.951;0.757	T	0.15694	-1.0428	10	0.72032	D	0.01	.	4.7544	0.13077	0.173:0.0:0.6533:0.1736	.	111;130	Q1HEA1;P26718	.;NKG2D_HUMAN	E	130	ENSP00000240618:Q130E;ENSP00000446003:Q130E	ENSP00000240618:Q130E	Q	-	1	0	KLRK1	10422461	0.998000	0.40836	0.149000	0.22428	0.131000	0.20780	2.798000	0.47884	0.824000	0.34613	0.655000	0.94253	CAA	KLRK1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000213809		0.368	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRK1	HGNC	protein_coding	OTTHUMT00000400269.1	257	0.00	0	G	NM_007360		10531194	10531194	-1	no_errors	ENST00000240618	ensembl	human	known	69_37n	missense	404	13.49	63	SNP	0.033	C
KRT18	3875	genome.wustl.edu	37	12	53343222	53343222	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:53343222G>A	ENST00000388835.3	+	1	475	c.265G>A	c.(265-267)Gac>Aac	p.D89N	KRT8_ENST00000549198.1_Intron|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000550600.1_Missense_Mutation_p.D89N|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000388837.2_Missense_Mutation_p.D89N|KRT8_ENST00000552551.1_Intron	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	89	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAGCCTGAACGACCGCCTGGC	0.642																																						dbGAP											0													26.0	31.0	29.0					12																	53343222		2174	4245	6419	-	-	-	SO:0001583	missense	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.265G>A	12.37:g.53343222G>A	ENSP00000373487:p.Asp89Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.D89N	ENST00000388835.3	37	c.265	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100592	0.76983	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.91945	-2.94;-2.94;-2.94	3.79	3.79	0.43588	Filament (1);	0.000000	0.56097	D	0.000023	D	0.90290	0.6963	L	0.48935	1.535	0.58432	D	0.999999	B;B	0.27229	0.026;0.172	B;B	0.36289	0.044;0.221	D	0.90135	0.4209	10	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	89;89	F8VZY9;P05783	.;K1C18_HUMAN	N	89	ENSP00000373489:D89N;ENSP00000447278:D89N;ENSP00000373487:D89N	ENSP00000373487:D89N	D	+	1	0	KRT18	51629489	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.789000	0.85783	2.432000	0.82394	0.556000	0.70494	GAC	KRT18	-	pfam_F	ENSG00000111057		0.642	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	36	0.00	0	G	NM_199187		53343222	53343222	+1	no_errors	ENST00000388835	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	A
LILRA2	11027	genome.wustl.edu	37	19	55098711	55098711	+	Silent	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:55098711C>A	ENST00000251377.3	+	9	1483	c.1350C>A	c.(1348-1350)ctC>ctA	p.L450L	LILRA2_ENST00000251376.3_Silent_p.L433L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L421L|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.L450L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	450					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGGAGAATCTCATCCGCATGG	0.577																																						dbGAP											0													127.0	109.0	115.0					19																	55098711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1350C>A	19.37:g.55098711C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.L450	ENST00000251377.3	37	c.1350	CCDS46179.1	19																																																																																			LILRA2	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239998		0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	186	0.00	0	C			55098711	55098711	+1	no_errors	ENST00000251377	ensembl	human	known	69_37n	silent	186	29.70	79	SNP	0.011	A
LONRF1	91694	genome.wustl.edu	37	8	12598445	12598445	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr8:12598445G>A	ENST00000398246.3	-	3	970	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	301							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGAAGAAAGAGTTGTAAGGCA	0.378																																						dbGAP											0													183.0	184.0	184.0					8																	12598445		1836	4090	5926	-	-	-	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.901C>T	8.37:g.12598445G>A	ENSP00000381298:p.Leu301Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L301F	ENST00000398246.3	37	c.901	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479649	0.44044	.	.	ENSG00000154359	ENST00000398246	T	0.30448	1.53	5.35	4.46	0.54185	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.489164	0.15840	U	0.242066	T	0.18383	0.0441	N	0.08118	0	0.80722	D	1	B	0.18610	0.029	B	0.26094	0.066	T	0.06534	-1.0821	10	0.49607	T	0.09	-6.2224	11.3714	0.49702	0.1435:0.0:0.8565:0.0	.	301	Q17RB8	LONF1_HUMAN	F	301	ENSP00000381298:L301F	ENSP00000381298:L301F	L	-	1	0	LONRF1	12642816	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.470000	0.60175	2.673000	0.90976	0.655000	0.94253	CTC	LONRF1	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000154359		0.378	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	361	0.00	0	G	NM_152271		12598445	12598445	-1	no_errors	ENST00000398246	ensembl	human	known	69_37n	missense	437	11.90	59	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ccafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)"""	TGCACCTGCATGGGGGGGGCAG	0.535																																						dbGAP											0			GRCh37	CI073757	LRP2	I	rs80338754																																			-	-	-	SO:0001589	frameshift_variant	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.13140dupC	2.37:g.169997032_169997032dupG	ENSP00000263816:p.Pro4380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Frame_Shift_Ins	INS	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.C4381fs	ENST00000263816.3	37	c.13140_13139	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000081479		0.535	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	35	0.00	0	-	NM_004525		169997024	169997025	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_ins	68	11.69	9	INS	1.000:1.000	G
LRP2	4036	genome.wustl.edu	37	2	170082970	170082970	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:170082970C>G	ENST00000263816.3	-	32	5641	c.5356G>C	c.(5356-5358)Gat>Cat	p.D1786H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1786					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)"""	TCAGCATCATCAAATTCAACA	0.368																																						dbGAP											0													129.0	128.0	128.0					2																	170082970		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.5356G>C	2.37:g.170082970C>G	ENSP00000263816:p.Asp1786His	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.D1786H	ENST00000263816.3	37	c.5356	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441258	0.83993	.	.	ENSG00000081479	ENST00000263816	D	0.92545	-3.06	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96352	0.9259	10	0.87932	D	0	.	20.126	0.97982	0.0:1.0:0.0:0.0	.	1786	P98164	LRP2_HUMAN	H	1786	ENSP00000263816:D1786H	ENSP00000263816:D1786H	D	-	1	0	LRP2	169791216	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	7.794000	0.85869	2.749000	0.94314	0.655000	0.94253	GAT	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	205	0.00	0	C	NM_004525		170082970	170082970	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	217	18.11	48	SNP	1.000	G
LRRC16A	55604	genome.wustl.edu	37	6	25500451	25500451	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:25500451C>T	ENST00000329474.6	+	17	1751	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	461					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCTGGATCTCAGCAACTGTG	0.413																																						dbGAP											0													136.0	123.0	127.0					6																	25500451		1874	4105	5979	-	-	-	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1383C>T	6.37:g.25500451C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L461	ENST00000329474.6	37	c.1383	CCDS54973.1	6																																																																																			LRRC16A	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000079691		0.413	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	58	0.00	0	C	NM_017640		25500451	25500451	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	silent	63	30.77	28	SNP	1.000	T
LRRC52	440699	genome.wustl.edu	37	1	165513765	165513765	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:165513765G>A	ENST00000294818.1	+	1	522	c.232G>A	c.(232-234)Gac>Aac	p.D78N	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	78					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACTCCTCAGTGACCTTGTTTA	0.483																																						dbGAP											0													177.0	174.0	175.0					1																	165513765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.232G>A	1.37:g.165513765G>A	ENSP00000294818:p.Asp78Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN7|Q5T9K5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.D78N	ENST00000294818.1	37	c.232	CCDS30930.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004258	0.74932	.	.	ENSG00000162763	ENST00000294818	T	0.01947	4.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.01156	0.0038	N	0.17800	0.525	0.32054	N	0.596598	B	0.25390	0.125	B	0.30716	0.119	T	0.60707	-0.7210	9	0.36615	T	0.2	.	17.2918	0.87159	0.0:0.0:1.0:0.0	.	78	Q8N7C0	LRC52_HUMAN	N	78	ENSP00000294818:D78N	ENSP00000294818:D78N	D	+	1	0	LRRC52	163780389	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.095000	0.94175	2.677000	0.91161	0.563000	0.77884	GAC	LRRC52	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162763		0.483	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	HGNC	protein_coding	OTTHUMT00000083793.1	366	0.00	0	G	NM_001005214		165513765	165513765	+1	no_errors	ENST00000294818	ensembl	human	known	69_37n	missense	592	17.32	124	SNP	1.000	A
LRRTM4	80059	genome.wustl.edu	37	2	77746900	77746900	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:77746900C>T	ENST00000409093.1	-	3	431	c.95G>A	c.(94-96)aGa>aAa	p.R32K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R33K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R32K|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R32K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R33K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	32	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGGCAAGCTCTCTGAGCACC	0.473																																						dbGAP											0													76.0	75.0	75.0					2																	77746900		2032	4187	6219	-	-	-	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.95G>A	2.37:g.77746900C>T	ENSP00000386357:p.Arg32Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R33K	ENST00000409093.1	37	c.98	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973792	0.34848	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282;ENST00000456154	T;T;T;T;T	0.51325	0.71;0.73;0.73;0.82;0.83	5.72	4.85	0.62838	.	0.055638	0.64402	D	0.000002	T	0.22399	0.0540	N	0.04746	-0.17	0.35452	D	0.795773	B;B;B	0.20671	0.028;0.047;0.028	B;B;B	0.24541	0.024;0.054;0.024	T	0.23013	-1.0200	10	0.02654	T	1	.	9.9966	0.41902	0.0:0.8447:0.0:0.1553	.	33;32;32	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	33;32;32;32;33;21	ENSP00000387228:R33K;ENSP00000387297:R32K;ENSP00000386357:R32K;ENSP00000386236:R32K;ENSP00000386286:R33K	ENSP00000386236:R32K	R	-	2	0	LRRTM4	77600408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.495000	0.45337	1.433000	0.47394	0.655000	0.94253	AGA	LRRTM4	-	NULL	ENSG00000176204		0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	141	0.00	0	C	NM_024993		77746900	77746900	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	missense	136	10.53	16	SNP	1.000	T
LYPD6	130574	genome.wustl.edu	37	2	150325179	150325179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:150325179C>T	ENST00000334166.4	+	4	495	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	LYPD6_ENST00000409381.1_Nonsense_Mutation_p.Q80*	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	80	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CTGCTACACTCAGCACACAAT	0.453																																						dbGAP											0													203.0	183.0	189.0					2																	150325179		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.238C>T	2.37:g.150325179C>T	ENSP00000334463:p.Gln80*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC0|Q4G121|Q53TR3|Q659B1	Nonsense_Mutation	SNP	pfam_LY6_UPAR	p.Q80*	ENST00000334166.4	37	c.238	CCDS2188.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.460400	0.97585	.	.	ENSG00000187123	ENST00000409381;ENST00000334166	.	.	.	5.39	5.39	0.77823	.	0.208645	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.334	16.6417	0.85128	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000334463:Q80X	Q	+	1	0	LYPD6	150033425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.601000	0.54059	2.526000	0.85167	0.555000	0.69702	CAG	LYPD6	-	pfam_LY6_UPAR	ENSG00000187123		0.453	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD6	HGNC	protein_coding	OTTHUMT00000254800.2	566	0.18	1	C	NM_194317		150325179	150325179	+1	no_errors	ENST00000334166	ensembl	human	known	69_37n	nonsense	409	11.09	51	SNP	1.000	T
MAGEB10	139422	genome.wustl.edu	37	X	27839430	27839430	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:27839430C>G	ENST00000356790.2	+	3	252	c.7C>G	c.(7-9)Cga>Gga	p.R3G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	3										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CATCATGCCTCGAGGTCAGAA	0.527																																						dbGAP											0													45.0	45.0	45.0					X																	27839430		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.7C>G	X.37:g.27839430C>G	ENSP00000368304:p.Arg3Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R3G	ENST00000356790.2	37	c.7	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428033	0.43122	.	.	ENSG00000177689	ENST00000356790	T	0.07908	3.15	2.51	-0.618	0.11576	Melanoma associated antigen, MAGE, N-terminal (1);	0.514144	0.17858	U	0.159624	T	0.25754	0.0627	M	0.90425	3.115	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11842	-1.0571	10	0.87932	D	0	.	2.0802	0.03633	0.2552:0.3943:0.0:0.3505	.	3	Q96LZ2	MAGBA_HUMAN	G	3	ENSP00000368304:R3G	ENSP00000368304:R3G	R	+	1	2	MAGEB10	27749351	0.006000	0.16342	0.001000	0.08648	0.347000	0.29111	-0.487000	0.06505	-0.293000	0.08986	0.415000	0.27848	CGA	MAGEB10	-	pfam_Melanoma_ass_antigen_N	ENSG00000177689		0.527	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	37	0.00	0	C	NM_182506		27839430	27839430	+1	no_errors	ENST00000356790	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	0.001	G
MCM6	4175	genome.wustl.edu	37	2	136598406	136598406	+	Nonstop_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:136598406C>G	ENST00000264156.2	-	17	2525	c.2465G>C	c.(2464-2466)tGa>tCa	p.*822S		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	0					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)		TTCACTATCTCAATCTTCGAG	0.517																																					Ovarian(196;141 2104 8848 24991 25939)	dbGAP											0													129.0	112.0	118.0					2																	136598406		2203	4300	6503	-	-	-	SO:0001578	stop_lost	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.2465G>C	2.37:g.136598406C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H2|Q13504|Q99859	Nonstop_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.*822S	ENST00000264156.2	37	c.2465	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310592	0.23821	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.4	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1089	0.25378	0.0:0.7529:0.0:0.2471	.	.	.	.	S	822	.	.	X	-	2	2	MCM6	136314876	1.000000	0.71417	0.969000	0.41365	0.277000	0.26821	1.189000	0.32114	2.677000	0.91161	0.650000	0.86243	TGA	MCM6	-	NULL	ENSG00000076003		0.517	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	73	0.00	0	C	NM_005915		136598406	136598406	-1	no_errors	ENST00000264156	ensembl	human	known	69_37n	nonstop	72	17.24	15	SNP	1.000	G
MEOX1	4222	genome.wustl.edu	37	17	41738538	41738538	+	Missense_Mutation	SNP	C	C	T	rs576651683		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:41738538C>T	ENST00000318579.4	-	1	784	c.365G>A	c.(364-366)gGc>gAc	p.G122D	MEOX1_ENST00000329168.3_Missense_Mutation_p.G122D|MEOX1_ENST00000549132.1_Missense_Mutation_p.A93T|MEOX1_ENST00000393661.2_Missense_Mutation_p.G7D	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	122					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GTCCACCAGGCCCAGGCTGCT	0.632																																						dbGAP											0													70.0	81.0	77.0					17																	41738538		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.365G>A	17.37:g.41738538C>T	ENSP00000321684:p.Gly122Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G122D	ENST00000318579.4	37	c.365	CCDS11466.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.03|10.03	1.239951|1.239951	0.22711|0.22711	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.71;-2.75	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.213241	.|0.49916	.|D	.|0.000135	D|D	0.90345|0.90345	0.6979|0.6979	L|L	0.59436|0.59436	1.845|1.845	0.32900|0.32900	D|D	0.513038|0.513038	.|D;B	.|0.53312	.|0.959;0.306	.|P;B	.|0.48030	.|0.564;0.075	D|D	0.90560|0.90560	0.4515|0.4515	6|10	0.87932|0.30078	D|T	0|0.28	-25.6657|-25.6657	9.1857|9.1857	0.37170|0.37170	0.0:0.852:0.0:0.148|0.0:0.852:0.0:0.148	.|.	.|122;122	.|Q15069;P50221	.|.;MEOX1_HUMAN	T|D	93|122;122;7	.|ENSP00000321684:G122D;ENSP00000328678:G122D;ENSP00000377271:G7D	ENSP00000449049:A93T|ENSP00000321684:G122D	A|G	-|-	1|2	0|0	MEOX1|MEOX1	39094064|39094064	0.826000|0.826000	0.29277|0.29277	0.977000|0.977000	0.42913|0.42913	0.950000|0.950000	0.60333|0.60333	1.142000|1.142000	0.31540|0.31540	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	GCC|GGC	MEOX1	-	NULL	ENSG00000005102		0.632	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	38	0.00	0	C			41738538	41738538	-1	no_errors	ENST00000318579	ensembl	human	known	69_37n	missense	11	67.65	23	SNP	0.996	T
MED13	9969	genome.wustl.edu	37	17	60043906	60043906	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:60043906T>A	ENST00000397786.2	-	19	4374	c.4298A>T	c.(4297-4299)gAa>gTa	p.E1433V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1433					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)|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)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAAACCATTCTGCTACCAA	0.388																																						dbGAP											0													156.0	140.0	145.0					17																	60043906		1873	4116	5989	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4298A>T	17.37:g.60043906T>A	ENSP00000380888:p.Glu1433Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1433V	ENST00000397786.2	37	c.4298	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984243	0.93044	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.66995	-0.24	5.48	5.48	0.80851	.	0.044558	0.85682	D	0.000000	T	0.76828	0.4042	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.80165	-0.1496	10	0.87932	D	0	-22.985	15.5805	0.76432	0.0:0.0:0.0:1.0	.	1433	Q9UHV7	MED13_HUMAN	V	1433;1432	ENSP00000380888:E1433V	ENSP00000262436:E1432V	E	-	2	0	MED13	57398688	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.089000	0.63090	0.460000	0.39030	GAA	MED13	-	NULL	ENSG00000108510		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	156	0.00	0	T	NM_005121		60043906	60043906	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	185	28.29	73	SNP	1.000	A
MEP1A	4224	genome.wustl.edu	37	6	46761439	46761439	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:46761439C>T	ENST00000230588.4	+	3	140	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	44					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAGGATATTTCAGAAATCAAT	0.318																																						dbGAP											0													46.0	49.0	48.0					6																	46761439		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.131C>T	6.37:g.46761439C>T	ENSP00000230588:p.Ser44Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,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.S44L	ENST00000230588.4	37	c.131	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867803	0.32977	.	.	ENSG00000112818	ENST00000230588	T	0.22945	1.93	5.47	3.63	0.41609	.	0.758778	0.12778	N	0.439878	T	0.07098	0.0180	L	0.29908	0.895	0.22127	N	0.999348	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27971	-1.0058	10	0.30854	T	0.27	1.506	9.3163	0.37937	0.0:0.8214:0.0:0.1786	.	72;44	B7ZL91;Q16819	.;MEP1A_HUMAN	L	44	ENSP00000230588:S44L	ENSP00000230588:S44L	S	+	2	0	MEP1A	46869398	0.962000	0.33011	0.997000	0.53966	0.992000	0.81027	1.101000	0.31037	1.410000	0.46936	0.650000	0.86243	TCA	MEP1A	-	pirsf_Pept_M12A_Meprin	ENSG00000112818		0.318	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	129	0.00	0	C	NM_005588		46761439	46761439	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	missense	127	28.25	50	SNP	0.994	T
ZNRF2	223082	genome.wustl.edu	37	7	30329505	30329505	+	Intron	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:30329505C>T	ENST00000323037.4	+	1	1520				MIR550A1_ENST00000385037.1_RNA	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						CAACAAGTCTCTTGCTCTCCT	0.408																																						dbGAP											0													91.0	84.0	86.0					7																	30329505		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.469+4063C>T	7.37:g.30329505C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000323037.4	37	NULL	CCDS5426.1	7																																																																																			MIR550A1	-	-	ENSG00000207771		0.408	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR550A1	HGNC	protein_coding	OTTHUMT00000214992.1	61	0.00	0	C	NM_147128		30329505	30329505	+1	no_errors	ENST00000385037	ensembl	human	known	69_37n	rna	41	14.58	7	SNP	0.000	T
MMP10	4319	genome.wustl.edu	37	11	102650299	102650299	+	Missense_Mutation	SNP	C	C	G	rs144369862	byFrequency	TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:102650299C>G	ENST00000279441.4	-	2	319	c.283G>C	c.(283-285)Gac>Cac	p.D95H		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	95					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGACCAACGTCAGGAACTCCA	0.473																																						dbGAP											0													109.0	89.0	96.0					11																	102650299		2203	4299	6502	-	-	-	SO:0001583	missense	0			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.283G>C	11.37:g.102650299C>G	ENSP00000279441:p.Asp95His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9X9|Q53HH9	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.D95H	ENST00000279441.4	37	c.283	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	c	15.32	2.800055	0.50208	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.62639	0.01;0.01	4.25	4.25	0.50352	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.126345	0.35378	N	0.003243	D	0.86900	0.6044	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92240	0.5800	10	0.87932	D	0	.	17.2147	0.86940	0.0:1.0:0.0:0.0	.	95	P09238	MMP10_HUMAN	H	95	ENSP00000279441:D95H;ENSP00000441485:D95H	ENSP00000279441:D95H	D	-	1	0	MMP10	102155509	1.000000	0.71417	0.013000	0.15412	0.010000	0.07245	7.607000	0.82883	2.365000	0.80145	0.591000	0.81541	GAC	MMP10	-	pirsf_Pept_M10A_matrix_strom,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A_matrixin	ENSG00000166670		0.473	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	167	0.00	0	C			102650299	102650299	-1	no_errors	ENST00000279441	ensembl	human	known	69_37n	missense	152	30.28	66	SNP	0.984	G
MPDZ	8777	genome.wustl.edu	37	9	13222437	13222437	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:13222437C>T	ENST00000319217.7	-	6	789	c.542G>A	c.(541-543)aGa>aAa	p.R181K	MPDZ_ENST00000381022.2_Missense_Mutation_p.R181K|MPDZ_ENST00000546205.1_Missense_Mutation_p.R181K|MPDZ_ENST00000447879.1_Missense_Mutation_p.R181K|MPDZ_ENST00000541718.1_Missense_Mutation_p.R181K|MPDZ_ENST00000536827.1_Missense_Mutation_p.R181K|MPDZ_ENST00000381015.4_Missense_Mutation_p.R181K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	181	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCTTTCAATCTTCCATCTCT	0.383																																						dbGAP											0													165.0	152.0	156.0					9																	13222437		1865	4106	5971	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.542G>A	9.37:g.13222437C>T	ENSP00000320006:p.Arg181Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.R181K	ENST00000319217.7	37	c.542		9	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681386	0.47991	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.07	5.17	0.71159	.	0.000000	0.49916	D	0.000129	T	0.40570	0.1122	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16802	0.011;0.019;0.019	B;B;B	0.20577	0.022;0.03;0.018	T	0.25328	-1.0135	10	0.42905	T	0.14	.	11.8937	0.52644	0.0:0.8504:0.0:0.1496	.	181;181;181	B7ZMI4;O75970-3;O75970-2	.;.;.	K	181	ENSP00000320006:R181K;ENSP00000439807:R181K;ENSP00000370410:R181K;ENSP00000444151:R181K;ENSP00000415208:R181K;ENSP00000370403:R181K;ENSP00000446358:R181K	ENSP00000320006:R181K	R	-	2	0	MPDZ	13212437	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.707000	0.54838	1.571000	0.49722	0.585000	0.79938	AGA	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	253	0.00	0	C	NM_003829		13222437	13222437	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	261	30.03	112	SNP	1.000	T
ASB12	142689	genome.wustl.edu	37	X	63445342	63445342	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:63445342G>T	ENST00000396130.2	-	1	161	c.162C>A	c.(160-162)ttC>ttA	p.F54L	MTMR8_ENST00000453546.1_Missense_Mutation_p.F438L|ASB12_ENST00000362002.2_Missense_Mutation_p.F63L			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	54					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGCTGTTGATGAAACGTTTGT	0.522																																						dbGAP											2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											67.0	54.0	58.0					X																	63445342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.162C>A	X.37:g.63445342G>T	ENSP00000379435:p.Phe54Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F438L	ENST00000396130.2	37	c.1314		X	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493215	0.26774	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.75154	0.16;0.23;-0.91	3.89	-3.97	0.04094	Ankyrin repeat-containing domain (2);	0.376288	0.30989	N	0.008479	T	0.40473	0.1118	N	0.02775	-0.495	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.36065	-0.9763	10	0.15952	T	0.53	-17.3534	7.9012	0.29736	0.6142:0.0:0.2704:0.1154	.	438;54	B4DQL0;Q8WXK4	.;ASB12_HUMAN	L	63;54;63;438	ENSP00000355195:F63L;ENSP00000379435:F54L;ENSP00000394003:F438L	ENSP00000354626:F63L	F	-	3	2	ASB12;MTMR8	63362067	0.975000	0.34042	0.801000	0.32222	0.976000	0.68499	0.044000	0.13992	-1.113000	0.02981	-0.344000	0.07964	TTC	MTMR8	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000102043		0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		160	0.00	0	G			63445342	63445342	-1	no_errors	ENST00000453546	ensembl	human	known	69_37n	missense	200	13.42	31	SNP	0.167	T
MTOR	2475	genome.wustl.edu	37	1	11307746	11307746	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:11307746C>T	ENST00000361445.4	-	8	1237	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	387	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCATTTGGATCAGCGAGTTCT	0.502																																						dbGAP											0													131.0	125.0	127.0					1																	11307746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1161G>A	1.37:g.11307746C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L387	ENST00000361445.4	37	c.1161	CCDS127.1	1																																																																																			MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.502	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	194	0.00	0	C	NM_004958		11307746	11307746	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	72	39.50	47	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9026209	9026209	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:9026209C>G	ENST00000397910.4	-	14	36980	c.36777G>C	c.(36775-36777)gaG>gaC	p.E12259D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12261	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGGACACTCTCCATGGTGT	0.562																																						dbGAP											0													246.0	226.0	232.0					19																	9026209		2082	4200	6282	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36777G>C	19.37:g.9026209C>G	ENSP00000381008:p.Glu12259Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E12259D	ENST00000397910.4	37	c.36777	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	6.632	0.485014	0.12641	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	2.39	-0.629	0.11533	.	.	.	.	.	T	0.52419	0.1733	M	0.88310	2.945	.	.	.	D	0.71674	0.998	D	0.68621	0.959	T	0.57142	-0.7862	8	0.87932	D	0	.	4.7445	0.13031	0.0:0.5115:0.0:0.4885	.	12259	B5ME49	.	D	12259	ENSP00000381008:E12259D	ENSP00000381008:E12259D	E	-	3	2	MUC16	8887209	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.319000	0.02702	-0.059000	0.13154	0.195000	0.17529	GAG	MUC16	-	pfam_SEA,smart_SEA	ENSG00000181143		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	553	0.18	1	C	NM_024690		9026209	9026209	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	511	32.94	252	SNP	0.003	G
MUC16	94025	genome.wustl.edu	37	19	9048939	9048939	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:9048939G>C	ENST00000397910.4	-	5	32895	c.32692C>G	c.(32692-32694)Ctt>Gtt	p.L10898V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10900	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAAAGAGTCAGAATT	0.493																																						dbGAP											0													122.0	109.0	113.0					19																	9048939		1908	4131	6039	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32692C>G	19.37:g.9048939G>C	ENSP00000381008:p.Leu10898Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L10898V	ENST00000397910.4	37	c.32692	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.440	-0.328792	0.05314	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	3.18	-6.36	0.01969	.	.	.	.	.	T	0.01870	0.0059	N	0.16368	0.405	.	.	.	B	0.20988	0.05	B	0.17722	0.019	T	0.43507	-0.9387	8	0.87932	D	0	.	7.058	0.25109	0.0:0.3276:0.3294:0.343	.	10898	B5ME49	.	V	10898	ENSP00000381008:L10898V	ENSP00000381008:L10898V	L	-	1	0	MUC16	8909939	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.645000	0.00405	-2.812000	0.00347	-0.364000	0.07487	CTT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	893	0.11	1	G	NM_024690		9048939	9048939	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	840	33.49	425	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9064816	9064816	+	Silent	SNP	A	A	G	rs557695512		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:9064816A>G	ENST00000397910.4	-	3	22833	c.22630T>C	c.(22630-22632)Ttg>Ctg	p.L7544L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7546	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCCCTCAATCTGGTGGTC	0.473													N|||	1	0.000199681	0.0	0.0	5008	,	,		21945	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													104.0	101.0	102.0					19																	9064816		1993	4181	6174	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22630T>C	19.37:g.9064816A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L7544	ENST00000397910.4	37	c.22630	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	277	0.00	0	A	NM_024690		9064816	9064816	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	358	34.55	189	SNP	0.000	G
MYH7	4625	genome.wustl.edu	37	14	23884898	23884898	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:23884898C>T	ENST00000355349.3	-	35	5259	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1699					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)		CCGCCAGCTTCCGGGACCGCT	0.627																																						dbGAP											0													67.0	64.0	65.0					14																	23884898		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.5097G>A	14.37:g.23884898C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	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.R1699	ENST00000355349.3	37	c.5097	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	49	0.00	0	C	NM_000257		23884898	23884898	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	silent	61	14.08	10	SNP	0.999	T
MYO1B	4430	genome.wustl.edu	37	2	192257811	192257811	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:192257811G>A	ENST00000392318.3	+	20	2336	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.E697K|MYO1B_ENST00000304164.4_Missense_Mutation_p.E697K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E697K	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	697	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ATTCAAATTAGAAGACCTGAG	0.408																																						dbGAP											0													65.0	66.0	66.0					2																	192257811		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2089G>A	2.37:g.192257811G>A	ENSP00000376132:p.Glu697Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43794|Q7Z6L5	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.E697K	ENST00000392318.3	37	c.2089	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	G	30	5.052408	0.93793	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.55	5.55	0.83447	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.967;0.985	D	0.93659	0.6980	10	0.87932	D	0	.	19.8639	0.96797	0.0:0.0:1.0:0.0	.	697;697	O43795;O43795-2	MYO1B_HUMAN;.	K	697	ENSP00000341903:E697K;ENSP00000376132:E697K;ENSP00000306382:E697K;ENSP00000376130:E697K	ENSP00000306382:E697K	E	+	1	0	MYO1B	191966056	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	9.519000	0.98025	2.772000	0.95346	0.650000	0.86243	GAA	MYO1B	-	smart_Myosin_head_motor_dom	ENSG00000128641		0.408	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	139	0.00	0	G	NM_012223		192257811	192257811	+1	no_errors	ENST00000304164	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	1.000	A
NAP1L3	4675	genome.wustl.edu	37	X	92927869	92927869	+	Silent	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:92927869A>G	ENST00000373079.3	-	1	698	c.435T>C	c.(433-435)gaT>gaC	p.D145D	FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.D138D|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	145					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GAAACCGCCTATCATACAGAG	0.403																																						dbGAP											0													52.0	45.0	47.0					X																	92927869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.435T>C	X.37:g.92927869A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM0|O60788	Silent	SNP	pfam_NAP_family	p.D145	ENST00000373079.3	37	c.435	CCDS14465.1	X																																																																																			NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.403	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	215	0.00	0	A	NM_004538		92927869	92927869	-1	no_errors	ENST00000373079	ensembl	human	known	69_37n	silent	82	23.36	25	SNP	0.514	G
NCK2	8440	genome.wustl.edu	37	2	106509512	106509512	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:106509512C>T	ENST00000233154.4	+	5	1465	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	NCK2_ENST00000393349.2_Silent_p.V341V|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	341	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						TGGACAATGTCTACTGCATTG	0.557																																						dbGAP											0													91.0	80.0	84.0					2																	106509512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.1023C>T	2.37:g.106509512C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.V341	ENST00000233154.4	37	c.1023	CCDS33266.1	2																																																																																			NCK2	-	pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2	ENSG00000071051		0.557	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1	61	0.00	0	C	NM_003581		106509512	106509512	+1	no_errors	ENST00000233154	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	16029456	16029457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:16029456_16029457insT	ENST00000268712.3	-	15	1830_1831	c.1573_1574insA	c.(1573-1575)acafs	p.T525fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T525fs|NCOR1_ENST00000395848.1_Frame_Shift_Ins_p.T416fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	525					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|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)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ttttttttctgttttttctgct	0.297																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1574dupA	17.37:g.16029462_16029462dupT	ENSP00000268712:p.Thr525fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T525fs	ENST00000268712.3	37	c.1574_1573	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.297	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	93	0.00	0	-	NM_006311		16029456	16029457	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	frame_shift_ins	91	27.78	35	INS	1.000:1.000	T
NINL	22981	genome.wustl.edu	37	20	25442244	25442244	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:25442244C>G	ENST00000278886.6	-	21	3683	c.3610G>C	c.(3610-3612)Gaa>Caa	p.E1204Q	NINL_ENST00000464285.1_5'Flank|NINL_ENST00000422516.1_Missense_Mutation_p.E855Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1204					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATTCAAGTTCAACTCTAAGT	0.438																																						dbGAP											0													172.0	146.0	154.0					20																	25442244		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3610G>C	20.37:g.25442244C>G	ENSP00000278886:p.Glu1204Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1204Q	ENST00000278886.6	37	c.3610	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891067	0.52014	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.36157	3.43;1.27	4.27	4.27	0.50696	.	0.271323	0.29806	N	0.011154	T	0.54191	0.1843	L	0.58101	1.795	0.26598	N	0.973061	D;P	0.89917	1.0;0.63	D;P	0.83275	0.996;0.492	T	0.45190	-0.9278	10	0.41790	T	0.15	-10.122	13.7116	0.62672	0.0:1.0:0.0:0.0	.	855;1204	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	1204;855	ENSP00000278886:E1204Q;ENSP00000410431:E855Q	ENSP00000278886:E1204Q	E	-	1	0	NINL	25390244	0.944000	0.32072	0.961000	0.40146	0.570000	0.35934	1.912000	0.39946	2.211000	0.71520	0.555000	0.69702	GAA	NINL	-	NULL	ENSG00000101004		0.438	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	62	0.00	0	C	NM_025176		25442244	25442244	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.978	G
NLGN2	57555	genome.wustl.edu	37	17	7319011	7319011	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:7319011G>C	ENST00000302926.2	+	6	1292	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H	NLGN2_ENST00000575301.1_Missense_Mutation_p.D407H	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	407					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)				CAGCGCCTTTGACTTCACTGT	0.557																																						dbGAP											0													187.0	159.0	169.0					17																	7319011		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.1219G>C	17.37:g.7319011G>C	ENSP00000305288:p.Asp407His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D407H	ENST00000302926.2	37	c.1219	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076116	0.76415	.	.	ENSG00000169992	ENST00000302926	T	0.69175	-0.38	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.69463	2.115	0.80722	D	1	P	0.43287	0.802	B	0.38803	0.282	T	0.72178	-0.4369	10	0.66056	D	0.02	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	407	Q8NFZ4	NLGN2_HUMAN	H	407	ENSP00000305288:D407H	ENSP00000305288:D407H	D	+	1	0	NLGN2	7259735	1.000000	0.71417	0.982000	0.44146	0.902000	0.53008	9.648000	0.98483	2.826000	0.97356	0.561000	0.74099	GAC	NLGN2	-	pfam_CarbesteraseB	ENSG00000169992		0.557	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	85	0.00	0	G	NM_020795		7319011	7319011	+1	no_errors	ENST00000302926	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	1.000	C
NPTX1	4884	genome.wustl.edu	37	17	78447148	78447148	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:78447148A>T	ENST00000306773.4	-	3	906	c.749T>A	c.(748-750)aTg>aAg	p.M250K	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	250	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GAAGGCGTACATCTCTGGCAG	0.592																																						dbGAP											0													253.0	215.0	228.0					17																	78447148		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.749T>A	17.37:g.78447148A>T	ENSP00000307549:p.Met250Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.M250K	ENST00000306773.4	37	c.749	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650414	0.87958	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06528	3.29	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.037866	0.85682	D	0.000000	T	0.14830	0.0358	M	0.82517	2.595	0.80722	D	1	P	0.35226	0.491	B	0.40199	0.322	T	0.01488	-1.1342	10	0.87932	D	0	-30.198	13.0275	0.58823	1.0:0.0:0.0:0.0	.	250	Q15818	NPTX1_HUMAN	K	250;12	ENSP00000307549:M250K	ENSP00000307549:M250K	M	-	2	0	NPTX1	76061743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.959000	0.93110	1.729000	0.51567	0.418000	0.28097	ATG	NPTX1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	ENSG00000171246		0.592	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	24	0.00	0	A			78447148	78447148	-1	no_errors	ENST00000306773	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	T
NTNG1	22854	genome.wustl.edu	37	1	107691311	107691311	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:107691311G>A	ENST00000370068.1	+	2	942	c.96G>A	c.(94-96)ttG>ttA	p.L32L	NTNG1_ENST00000370066.1_Silent_p.L32L|NTNG1_ENST00000370070.2_Silent_p.L32L|NTNG1_ENST00000542803.1_Silent_p.L32L|NTNG1_ENST00000370067.1_Silent_p.L32L|NTNG1_ENST00000370061.3_Silent_p.L32L|NTNG1_ENST00000370071.2_Silent_p.L32L|NTNG1_ENST00000370074.4_Silent_p.L32L|NTNG1_ENST00000370073.2_Silent_p.L32L|NTNG1_ENST00000370072.3_Silent_p.L32L|NTNG1_ENST00000370065.1_Silent_p.L32L			Q9Y2I2	NTNG1_HUMAN	netrin G1	32					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTATGATTTGTGTAAGACTC	0.453																																						dbGAP											0													182.0	171.0	174.0					1																	107691311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.96G>A	1.37:g.107691311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.L32	ENST00000370068.1	37	c.96	CCDS44180.1	1																																																																																			NTNG1	-	NULL	ENSG00000162631		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	198	0.00	0	G	NM_014917		107691311	107691311	+1	no_errors	ENST00000370068	ensembl	human	known	69_37n	silent	82	19.61	20	SNP	1.000	A
NR5A2	2494	genome.wustl.edu	37	1	200080383	200080383	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:200080383C>T	ENST00000367362.3	+	6	1410	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	NR5A2_ENST00000544748.1_Silent_p.L316L|NR5A2_ENST00000236914.3_Silent_p.L342L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	388	Ligand-binding.				bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L388L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTTAATCCTCGACCACATTT	0.383																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											97.0	92.0	94.0					1																	200080383		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1164C>T	1.37:g.200080383C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2P3|O95642|Q147U3	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L388	ENST00000367362.3	37	c.1164	CCDS1401.1	1																																																																																			NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.383	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	140	0.00	0	C			200080383	200080383	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	silent	263	19.27	63	SNP	0.729	T
NTSR2	23620	genome.wustl.edu	37	2	11800210	11800210	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:11800210G>A	ENST00000306928.5	-	3	982	c.948C>T	c.(946-948)cgC>cgT	p.R316R		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	316					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)	ACATGAGCCTGCGGGCATGGT	0.582																																						dbGAP											0													102.0	87.0	92.0					2																	11800210		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.948C>T	2.37:g.11800210G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R316	ENST00000306928.5	37	c.948	CCDS1681.1	2																																																																																			NTSR2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169006		0.582	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1	51	0.00	0	G			11800210	11800210	-1	no_errors	ENST00000306928	ensembl	human	known	69_37n	silent	37	17.78	8	SNP	1.000	A
NUSAP1	51203	genome.wustl.edu	37	15	41663884	41663885	+	Splice_Site	INS	-	-	A	rs371284414		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:41663884_41663885insA	ENST00000559596.1	+	8	1093		c.e8+2		NUSAP1_ENST00000560747.1_Splice_Site|NUSAP1_ENST00000450318.1_Splice_Site|NUSAP1_ENST00000450592.2_Splice_Site|NUSAP1_ENST00000260359.6_Splice_Site|NUSAP1_ENST00000414849.2_Splice_Site|NUSAP1_ENST00000558123.1_Splice_Site|NUSAP1_ENST00000560177.1_Splice_Site			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1						establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CTGCTGCTGGTAAAAAAAAAAA	0.381																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.1006+2->A	15.37:g.41663895_41663895dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Splice_Site	INS	-	e8+2	ENST00000559596.1	37	c.1006+2_1006+1	CCDS45234.1	15																																																																																			NUSAP1	-	-	ENSG00000137804		0.381	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	33	0	0	0	NM_016359	Intron	41663884	41663885	+1	no_errors	ENST00000559596	ensembl	human	known	69_37n	splice_site_ins	80	10.11	9	INS	0.991:0.187	A
OIT3	170392	genome.wustl.edu	37	10	74692229	74692229	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:74692229C>T	ENST00000334011.5	+	9	1803	c.1585C>T	c.(1585-1587)Cta>Tta	p.L529L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	529						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTCAGCCGGTCTACAGGGCCA	0.632																																					Colon(7;19 345 13446 17537)	dbGAP											0													68.0	66.0	67.0					10																	74692229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1585C>T	10.37:g.74692229C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVP3|Q8N1M8	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr,pfscan_Zona_pellucida_Endoglin/CD105	p.L529	ENST00000334011.5	37	c.1585	CCDS7318.1	10																																																																																			OIT3	-	NULL	ENSG00000138315		0.632	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	59	0.00	0	C	NM_152635		74692229	74692229	+1	no_errors	ENST00000334011	ensembl	human	known	69_37n	silent	63	30.00	27	SNP	0.000	T
OR2L3	391192	genome.wustl.edu	37	1	248224911	248224911	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:248224911delG	ENST00000359959.3	+	1	928	c.928delG	c.(928-930)gggfs	p.G310fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATCTGCTCTGGGAAAATGTA	0.443																																						dbGAP											0													38.0	39.0	39.0					1																	248224911		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.928delG	1.37:g.248224911delG	ENSP00000353044:p.Gly310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH44	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M312fs	ENST00000359959.3	37	c.928	CCDS31104.1	1																																																																																			OR2L3	-	NULL	ENSG00000198128		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	276	0.00	0	G	NM_001004687		248224911	248224911	+1	no_errors	ENST00000359959	ensembl	human	known	69_37n	frame_shift_del	307	19.37	74	DEL	0.000	-
OR4C13	283092	genome.wustl.edu	37	11	49974337	49974337	+	Silent	SNP	T	T	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:49974337T>C	ENST00000555099.1	+	1	395	c.363T>C	c.(361-363)taT>taC	p.Y121Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGACCACTATGTGGCCATCT	0.448																																						dbGAP											0													120.0	109.0	113.0					11																	49974337		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.363T>C	11.37:g.49974337T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y121	ENST00000555099.1	37	c.363	CCDS31495.1	11																																																																																			OR4C13	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258817		0.448	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	HGNC	protein_coding	OTTHUMT00000391103.1	543	0.00	0	T	NM_001001955		49974337	49974337	+1	no_errors	ENST00000555099	ensembl	human	known	69_37n	silent	540	25.14	182	SNP	1.000	C
OR5D13	390142	genome.wustl.edu	37	11	55540972	55540972	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:55540972C>G	ENST00000361760.1	+	1	59	c.59C>G	c.(58-60)tCa>tGa	p.S20*		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTGGGTTTTTCAGAATACCCA	0.383																																						dbGAP											0													108.0	109.0	109.0					11																	55540972		2200	4296	6496	-	-	-	SO:0001587	stop_gained	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.59C>G	11.37:g.55540972C>G	ENSP00000354800:p.Ser20*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF68|Q6IFC9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S20*	ENST00000361760.1	37	c.59	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225159	0.39300	.	.	ENSG00000198877	ENST00000361760	.	.	.	3.52	3.52	0.40303	.	0.000000	0.28146	U	0.016429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8377	9.7536	0.40490	0.2069:0.7931:0.0:0.0	.	.	.	.	X	20	.	ENSP00000354800:S20X	S	+	2	0	OR5D13	55297548	0.002000	0.14202	0.400000	0.26346	0.019000	0.09904	1.779000	0.38624	2.001000	0.58596	0.486000	0.48141	TCA	OR5D13	-	NULL	ENSG00000198877		0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	530	0.00	0	C	NM_001001967		55540972	55540972	+1	no_errors	ENST00000361760	ensembl	human	known	69_37n	nonsense	466	26.15	165	SNP	0.959	G
PAM	5066	genome.wustl.edu	37	5	102343195	102343195	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:102343195C>T	ENST00000438793.3	+	19	2519	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	PAM_ENST00000379787.4_Silent_p.F63F|PAM_ENST00000346918.2_Silent_p.F683F|PAM_ENST00000455264.2_Silent_p.F683F|PAM_ENST00000348126.2_Silent_p.F576F|PAM_ENST00000304400.7_Silent_p.F683F|PAM_ENST00000274392.9_Silent_p.F586F	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	683	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGGCCAGTTCACTGTTCCTC	0.453																																						dbGAP											0													136.0	140.0	139.0					5																	102343195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2049C>T	5.37:g.102343195C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.H456Y	ENST00000438793.3	37	c.1366	CCDS54885.1	5	.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857490	0.02630	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.27	4.4	0.53042	.	.	.	.	.	T	0.61949	0.2388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60459	-0.7259	4	.	.	.	.	10.694	0.45888	0.0:0.835:0.0:0.165	.	.	.	.	Y	456	.	.	H	+	1	0	PAM	102371094	0.863000	0.29885	0.957000	0.39632	0.018000	0.09664	1.622000	0.36997	1.455000	0.47813	0.655000	0.94253	CAC	PAM	-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	ENSG00000145730		0.453	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	194	0.00	0	C	NM_000919		102343195	102343195	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000379799	ensembl	human	putative	69_37n	missense	200	34.85	107	SNP	0.998	T
PAPPA2	60676	genome.wustl.edu	37	1	176564441	176564441	+	Silent	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:176564441G>C	ENST00000367662.3	+	3	2865	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	PAPPA2_ENST00000367661.3_Silent_p.L567L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	567	Metalloprotease.				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						GCTGGCAGCTGAGCGTCCACC	0.562																																						dbGAP											0													81.0	85.0	84.0					1																	176564441		2141	4241	6382	-	-	-	SO:0001819	synonymous_variant	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.1701G>C	1.37:g.176564441G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	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.L567	ENST00000367662.3	37	c.1701	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	227	0.00	0	G			176564441	176564441	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	silent	254	11.50	33	SNP	0.986	C
PCDHGA9	56107	genome.wustl.edu	37	5	140784572	140784572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:140784572G>T	ENST00000573521.1	+	1	2053	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	685					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACCTGGAGGCCTCAGA	0.602																																						dbGAP											0													107.0	119.0	115.0					5																	140784572		2164	4279	6443	-	-	-	SO:0001587	stop_gained	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2053G>T	5.37:g.140784572G>T	ENSP00000460274:p.Glu685*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU65|Q9Y5C9	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E685*	ENST00000573521.1	37	c.2053	CCDS58981.1	5																																																																																			PCDHGA9	-	NULL	ENSG00000261934		0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	128	0.00	0	G	NM_018921		140784572	140784572	+1	no_errors	ENST00000573521	ensembl	human	known	69_37n	nonsense	58	30.12	25	SNP	0.050	T
PEG3	5178	genome.wustl.edu	37	19	57327706	57327706	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:57327706C>T	ENST00000326441.9	-	10	2467	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	PEG3_ENST00000598410.1_Missense_Mutation_p.E578K|PEG3_ENST00000593695.1_Missense_Mutation_p.E576K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E702K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	702					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGATGCTCACTGAGCTCT	0.443																																						dbGAP											0													70.0	69.0	69.0					19																	57327706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2104G>A	19.37:g.57327706C>T	ENSP00000326581:p.Glu702Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E702K	ENST00000326441.9	37	c.2104	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761060	0.31137	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14516	2.5;2.5	3.83	2.8	0.32819	.	0.334108	0.21802	N	0.068915	T	0.11623	0.0283	L	0.43757	1.38	.	.	.	B;P;P	0.44429	0.116;0.828;0.835	B;B;B	0.43386	0.016;0.418;0.363	T	0.09037	-1.0693	9	0.09338	T	0.73	-8.3886	9.4972	0.38995	0.0:0.8934:0.0:0.1066	.	578;702;637	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	702	ENSP00000326581:E702K;ENSP00000403051:E702K	ENSP00000326581:E702K	E	-	1	0	ZIM2	62019518	0.000000	0.05858	0.211000	0.23655	0.982000	0.71751	-1.638000	0.02013	1.197000	0.43143	0.585000	0.79938	GAG	PEG3	-	NULL	ENSG00000198300		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	352	0.00	0	C			57327706	57327706	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	292	29.30	121	SNP	0.124	T
PLEKHM3	389072	genome.wustl.edu	37	2	208841568	208841568	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:208841568C>T	ENST00000427836.2	-	3	1842	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	PLEKHM3_ENST00000457206.1_Silent_p.L451L|PLEKHM3_ENST00000389247.4_Silent_p.L451L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	451	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTATCTTCAGAGCCTCCA	0.532																																						dbGAP											0													73.0	71.0	72.0					2																	208841568		1977	4171	6148	-	-	-	SO:0001819	synonymous_variant	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1353G>A	2.37:g.208841568C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E203K	ENST00000427836.2	37	c.607	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748310	0.15710	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	T	0.65375	0.2685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62859	-0.6765	4	.	.	.	.	13.0521	0.58960	0.0:0.9267:0.0:0.0733	.	.	.	.	K	203	.	.	E	-	1	0	PLEKHM3	208549813	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.039000	0.41193	2.683000	0.91414	0.561000	0.74099	GAA	PLEKHM3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000178385		0.532	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	147	0.00	0	C	NM_001080475		208841568	208841568	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447645	ensembl	human	known	69_37n	missense	120	32.58	58	SNP	1.000	T
PLK1	5347	genome.wustl.edu	37	16	23692315	23692315	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:23692315C>G	ENST00000300093.4	+	3	769	c.658C>G	c.(658-660)Ccc>Gcc	p.P220A	PLK1_ENST00000564202.1_Intron	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	220	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTACATAGCTCCCGAGGTGCT	0.522																																					Colon(12;240 564 27038 33155)	dbGAP											0													205.0	186.0	192.0					16																	23692315		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.658C>G	16.37:g.23692315C>G	ENSP00000300093:p.Pro220Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.P220A	ENST00000300093.4	37	c.658	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923686	0.92319	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.75154	-0.91	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	D	0.91543	0.7329	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94473	0.7686	10	0.87932	D	0	-9.6339	16.6761	0.85279	0.0:1.0:0.0:0.0	.	220	P53350	PLK1_HUMAN	A	220;123;220	ENSP00000300093:P220A	ENSP00000300093:P220A	P	+	1	0	PLK1	23599816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.522000	0.85027	0.655000	0.94253	CCC	PLK1	-	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	ENSG00000166851		0.522	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	201	0.00	0	C	NM_005030		23692315	23692315	+1	no_errors	ENST00000300093	ensembl	human	known	69_37n	missense	143	30.58	63	SNP	1.000	G
PPFIA4	8497	genome.wustl.edu	37	1	203012602	203012602	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:203012602G>A	ENST00000447715.2	+	7	753	c.312G>A	c.(310-312)ctG>ctA	p.L104L	PPFIA4_ENST00000367240.2_Silent_p.L104L|PPFIA4_ENST00000414050.2_5'Flank|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	104					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TATCAGAACTGAAAGCAGAAC	0.552																																						dbGAP											0													28.0	24.0	25.0					1																	203012602		876	1990	2866	-	-	-	SO:0001819	synonymous_variant	0			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.312G>A	1.37:g.203012602G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM	p.L104	ENST00000447715.2	37	c.312		1																																																																																			PPFIA4	-	NULL	ENSG00000143847		0.552	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	PPFIA4	HGNC	protein_coding	OTTHUMT00000462949.1	17	0.00	0	G	NM_015053		203012602	203012602	+1	no_errors	ENST00000367240	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	A
PPP1R15B	84919	genome.wustl.edu	37	1	204379265	204379265	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:204379265C>T	ENST00000367188.4	-	1	1654	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	425					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TATAATCTATCAGTTTGTTAC	0.448																																						dbGAP											0													98.0	98.0	98.0					1																	204379265		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1275G>A	1.37:g.204379265C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.L425	ENST00000367188.4	37	c.1275	CCDS1445.1	1																																																																																			PPP1R15B	-	pfam_Prot_Pase1_reg-su15A/B_C	ENSG00000158615		0.448	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	HGNC	protein_coding	OTTHUMT00000087974.1	168	0.00	0	C	NM_032833		204379265	204379265	-1	no_errors	ENST00000367188	ensembl	human	known	69_37n	silent	223	10.80	27	SNP	0.987	T
PPP1R15B	84919	genome.wustl.edu	37	1	204380369	204380369	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:204380369C>G	ENST00000367188.4	-	1	550	c.171G>C	c.(169-171)gaG>gaC	p.E57D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	57					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGACCCGAGTCTCGGGCTGGG	0.582																																						dbGAP											0													61.0	68.0	66.0					1																	204380369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.171G>C	1.37:g.204380369C>G	ENSP00000356156:p.Glu57Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.E57D	ENST00000367188.4	37	c.171	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914699	0.33815	.	.	ENSG00000158615	ENST00000367188	T	0.25085	1.82	5.02	3.12	0.35913	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.429267	0.21017	N	0.081585	T	0.22437	0.0541	L	0.50333	1.59	0.26756	N	0.970101	P	0.42078	0.77	B	0.40506	0.331	T	0.10428	-1.0630	10	0.52906	T	0.07	-3.5625	6.9946	0.24774	0.0:0.7952:0.0:0.2048	.	57	Q5SWA1	PR15B_HUMAN	D	57	ENSP00000356156:E57D	ENSP00000356156:E57D	E	-	3	2	PPP1R15B	202646992	0.287000	0.24315	0.983000	0.44433	0.317000	0.28152	0.473000	0.22132	1.240000	0.43803	0.655000	0.94253	GAG	PPP1R15B	-	pfam_Prot_Pase1_reg-su15B_N	ENSG00000158615		0.582	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	HGNC	protein_coding	OTTHUMT00000087974.1	75	0.00	0	C	NM_032833		204380369	204380369	-1	no_errors	ENST00000367188	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	0.968	G
PPP2R3A	5523	genome.wustl.edu	37	3	135825064	135825064	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:135825064G>C	ENST00000264977.3	+	13	3846	c.3229G>C	c.(3229-3231)Gag>Cag	p.E1077Q	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E456Q|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E341Q	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1077					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGGATGTTGAGAACGATGG	0.448																																						dbGAP											0													63.0	63.0	63.0					3																	135825064		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3229G>C	3.37:g.135825064G>C	ENSP00000264977:p.Glu1077Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E1077Q	ENST00000264977.3	37	c.3229	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867090	0.91511	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.44881	0.91;0.91;0.91	6.02	6.02	0.97574	.	0.105214	0.64402	D	0.000005	T	0.44746	0.1308	L	0.46670	1.46	0.80722	D	1	P;P	0.42409	0.516;0.779	B;B	0.41764	0.281;0.366	T	0.38628	-0.9652	10	0.62326	D	0.03	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	456;1077	Q06190-2;Q06190	.;P2R3A_HUMAN	Q	1077;341;456	ENSP00000264977:E1077Q;ENSP00000419344:E341Q;ENSP00000334748:E456Q	ENSP00000264977:E1077Q	E	+	1	0	PPP2R3A	137307754	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.230000	0.95299	2.850000	0.98022	0.650000	0.86243	GAG	PPP2R3A	-	NULL	ENSG00000073711		0.448	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	129	0.00	0	G	NM_002718		135825064	135825064	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	missense	130	29.35	54	SNP	1.000	C
PRR4	11272	genome.wustl.edu	37	12	11001988	11001988	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:11001988G>C	ENST00000228811.4	-	1	86	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	PRR4_ENST00000536668.1_Intron|PRR4_ENST00000540107.1_Missense_Mutation_p.Q17E|PRR4_ENST00000544994.1_Missense_Mutation_p.Q17E	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	17					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TCTGTGCTCTGAGCTGAGCTC	0.502																																						dbGAP											0													32.0	31.0	32.0					12																	11001988		1923	4165	6088	-	-	-	SO:0001583	missense	0				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.49C>G	12.37:g.11001988G>C	ENSP00000228811:p.Gln17Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	NULL	p.Q17E	ENST00000228811.4	37	c.49	CCDS41756.1	12	.	.	.	.	.	.	.	.	.	.	G	4.816	0.151650	0.09185	.	.	ENSG00000111215	ENST00000544994;ENST00000228811;ENST00000540107;ENST00000431566	T;T;T	0.06142	3.34;3.34;3.34	3.03	3.03	0.35002	.	.	.	.	.	T	0.12433	0.0302	L	0.56340	1.77	0.20074	N	0.999938	D	0.58268	0.982	P	0.51833	0.681	T	0.07712	-1.0758	9	0.87932	D	0	.	9.8146	0.40844	0.0:0.0:1.0:0.0	.	17	Q16378	PROL4_HUMAN	E	17	ENSP00000438046:Q17E;ENSP00000228811:Q17E;ENSP00000443939:Q17E	ENSP00000228811:Q17E	Q	-	1	0	PRR4	10893255	0.659000	0.27411	0.508000	0.27688	0.684000	0.39900	0.704000	0.25661	1.982000	0.57802	0.404000	0.27445	CAG	PRR4	-	NULL	ENSG00000111215		0.502	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRR4	HGNC	protein_coding	OTTHUMT00000400049.1	53	0.00	0	G	NM_007244		11001988	11001988	-1	no_errors	ENST00000228811	ensembl	human	known	69_37n	missense	115	19.01	27	SNP	0.652	C
RAPGEF4	11069	genome.wustl.edu	37	2	173885435	173885435	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:173885435G>A	ENST00000397081.3	+	23	2388	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D749N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D529N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D596N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D578N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D605N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D596N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D748N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	749					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGAGCAATTCGATTCACTGGT	0.463																																						dbGAP											0													150.0	137.0	141.0					2																	173885435		1899	4123	6022	-	-	-	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2245G>A	2.37:g.173885435G>A	ENSP00000380271:p.Asp749Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D749N	ENST00000397081.3	37	c.2245	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673221	0.67928	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.67171	0.04;0.04;-0.25;-0.07;-0.06;0.05;0.05;-0.15	5.77	5.77	0.91146	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.69823	2.125	0.80722	D	1	B;B	0.27286	0.174;0.118	B;B	0.23852	0.046;0.049	T	0.66760	-0.5842	10	0.51188	T	0.08	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	605;749	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	N	748;749;749;605;578;596;596;529	ENSP00000264111:D748N;ENSP00000380271:D749N;ENSP00000387104:D749N;ENSP00000380276:D605N;ENSP00000440135:D578N;ENSP00000440250:D596N;ENSP00000437384:D596N;ENSP00000438011:D529N	ENSP00000264111:D748N	D	+	1	0	RAPGEF4	173593681	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.632000	0.83247	2.723000	0.93209	0.655000	0.94253	GAT	RAPGEF4	-	superfamily_Ras_GEF_dom	ENSG00000091428		0.463	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	184	0.00	0	G	NM_007023		173885435	173885435	+1	no_errors	ENST00000397081	ensembl	human	known	69_37n	missense	185	19.91	46	SNP	1.000	A
RFPL3	10738	genome.wustl.edu	37	22	32754312	32754312	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr22:32754312C>G	ENST00000249007.4	+	1	459	c.254C>G	c.(253-255)tCt>tGt	p.S85C	RFPL3_ENST00000382088.3_Missense_Mutation_p.S56C|RFPL3_ENST00000397468.1_Missense_Mutation_p.S56C|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	85							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCATGGTCTCTCAGAGGAAC	0.532																																						dbGAP											0													125.0	118.0	120.0					22																	32754312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.254C>G	22.37:g.32754312C>G	ENSP00000249007:p.Ser85Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.S85C	ENST00000249007.4	37	c.254	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360668	0.24598	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.59638	0.25;0.25;0.25	0.851	-0.573	0.11742	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.65080	0.2657	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53180	-0.8475	9	0.87932	D	0	.	4.4656	0.11687	0.0:0.5774:0.4226:0.0	.	85	O75679	RFPL3_HUMAN	C	56;85;56	ENSP00000380609:S56C;ENSP00000249007:S85C;ENSP00000371520:S56C	ENSP00000249007:S85C	S	+	2	0	RFPL3	31084312	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.196000	0.17176	-0.123000	0.11745	0.194000	0.17425	TCT	RFPL3	-	pfam_RDM_domain_RFPL	ENSG00000128276		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	166	0.00	0	C	NM_006604		32754312	32754312	+1	no_errors	ENST00000249007	ensembl	human	known	69_37n	missense	165	24.31	53	SNP	0.004	G
RFTN1	23180	genome.wustl.edu	37	3	16450944	16450944	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:16450944C>G	ENST00000334133.4	-	4	651	c.379G>C	c.(379-381)Gat>Cat	p.D127H	RFTN1_ENST00000432519.1_Missense_Mutation_p.D91H	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	127					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GAACAGCAATCTAATTCCAAG	0.418																																						dbGAP											0													162.0	152.0	155.0					3																	16450944		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.379G>C	3.37:g.16450944C>G	ENSP00000334153:p.Asp127His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.D127H	ENST00000334133.4	37	c.379	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284442	0.59867	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.53	5.53	0.82687	.	0.362425	0.31051	N	0.008348	T	0.55481	0.1923	L	0.56769	1.78	0.40619	D	0.981745	D;D	0.89917	1.0;0.982	D;P	0.69479	0.964;0.824	T	0.58070	-0.7701	10	0.72032	D	0.01	-27.6335	14.9572	0.71124	0.0:1.0:0.0:0.0	.	91;127	G3XAJ6;Q14699	.;RFTN1_HUMAN	H	91;127;127;127;127	ENSP00000403926:D91H;ENSP00000334153:D127H;ENSP00000403997:D127H;ENSP00000409427:D127H;ENSP00000388718:D127H	ENSP00000334153:D127H	D	-	1	0	RFTN1	16425948	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	4.084000	0.57650	2.599000	0.87857	0.655000	0.94253	GAT	RFTN1	-	NULL	ENSG00000131378		0.418	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	72	0.00	0	C	NM_015150		16450944	16450944	-1	no_errors	ENST00000334133	ensembl	human	known	69_37n	missense	71	26.80	26	SNP	1.000	G
RGS22	26166	genome.wustl.edu	37	8	101020623	101020623	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr8:101020623C>T	ENST00000360863.6	-	15	2535	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	RGS22_ENST00000523287.1_Missense_Mutation_p.D600N|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.D769N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	781					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCAATTTGGTCCGATTTTACC	0.408																																						dbGAP											0													151.0	142.0	145.0					8																	101020623		1872	4105	5977	-	-	-	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2341G>A	8.37:g.101020623C>T	ENSP00000354109:p.Asp781Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.D781N	ENST00000360863.6	37	c.2341	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011827	0.75046	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.83	5.83	0.93111	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.61703	1.905	0.36203	D	0.850833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.62300	-0.6883	10	0.72032	D	0.01	.	20.1337	0.98010	0.0:1.0:0.0:0.0	.	769;781;600	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	781;769;600;769;96	ENSP00000354109:D781N;ENSP00000429382:D600N;ENSP00000428212:D769N;ENSP00000427754:D96N	ENSP00000354109:D781N	D	-	1	0	RGS22	101089799	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	4.554000	0.60760	2.753000	0.94483	0.650000	0.86243	GAC	RGS22	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000132554		0.408	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	254	0.00	0	C	NM_015668		101020623	101020623	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	missense	223	29.43	93	SNP	1.000	T
RHOA	387	genome.wustl.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											157.0	147.0	150.0					3																	49412905		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E40Q	ENST00000418115.1	37	c.118	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	136	0.00	0	C	NM_001664		49412905	49412905	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	missense	229	23.41	70	SNP	1.000	G
RHOT1	55288	genome.wustl.edu	37	17	30503029	30503029	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:30503029G>A	ENST00000333942.6	+	5	510	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RHOT1_ENST00000545287.2_Missense_Mutation_p.D91N|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000358365.3_Missense_Mutation_p.D91N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D70N|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000581094.1_Missense_Mutation_p.D91N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D91N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	91	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GCATTCTATTGATAAGGTAGG	0.328																																						dbGAP											0													128.0	102.0	111.0					17																	30503029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.271G>A	17.37:g.30503029G>A	ENSP00000334724:p.Asp91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D91N	ENST00000333942.6	37	c.271	CCDS32612.1	17	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982595	0.53827	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.34	4.35	0.52113	Small GTP-binding protein domain (1);MIRO (1);	0.136777	0.64402	D	0.000003	T	0.75882	0.3910	L	0.56396	1.775	0.80722	D	1	B;B;B;B	0.16802	0.002;0.002;0.0;0.019	B;B;B;B	0.20767	0.012;0.018;0.008;0.031	T	0.74022	-0.3798	10	0.87932	D	0	-11.8736	15.8855	0.79244	0.0:0.136:0.864:0.0	.	91;91;91;91	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	91	ENSP00000351132:D91N;ENSP00000378184:D91N;ENSP00000334724:D91N;ENSP00000439737:D91N	ENSP00000334724:D91N	D	+	1	0	RHOT1	27527142	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.455000	0.97625	1.209000	0.43321	0.655000	0.94253	GAT	RHOT1	-	pfam_MIRO-like,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_Miro,tigrfam_Small_GTP-bd_dom	ENSG00000126858		0.328	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	108	0.00	0	G	NM_018307		30503029	30503029	+1	no_errors	ENST00000358365	ensembl	human	known	69_37n	missense	64	34.69	34	SNP	1.000	A
RNASE9	390443	genome.wustl.edu	37	14	21024983	21024983	+	Nonsense_Mutation	SNP	G	G	T	rs141373107		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:21024983G>T	ENST00000557068.1	-	4	1971	c.246C>A	c.(244-246)taC>taA	p.Y82*	RNASE9_ENST00000338904.3_Nonsense_Mutation_p.Y82*|RNASE9_ENST00000556208.1_Nonsense_Mutation_p.Y87*|RNASE9_ENST00000554964.1_Nonsense_Mutation_p.Y82*|RNASE9_ENST00000555230.1_Nonsense_Mutation_p.Y82*|RNASE9_ENST00000553541.1_Nonsense_Mutation_p.Y82*|RNASE9_ENST00000429244.2_Nonsense_Mutation_p.Y82*|RNASE9_ENST00000557209.1_Nonsense_Mutation_p.Y87*|RNASE9_ENST00000404716.3_Nonsense_Mutation_p.Y87*|RNASE9_ENST00000553706.1_Nonsense_Mutation_p.Y87*			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	82						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CATGGTTACAGTACTCTATAT	0.383																																						dbGAP											0													172.0	170.0	170.0					14																	21024983		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.246C>A	14.37:g.21024983G>T	ENSP00000451565:p.Tyr82*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Nonsense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.Y82*	ENST00000557068.1	37	c.246	CCDS32036.1	14	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084145	0.55861	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	.	.	.	3.59	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0188	4.2391	0.10640	0.4941:0.1829:0.3229:0.0	.	.	.	.	X	82;82;82;82;87;87;82;82;87;87	.	ENSP00000340162:Y82X	Y	-	3	2	RNASE9	20094823	0.005000	0.15991	0.001000	0.08648	0.005000	0.04900	0.083000	0.14871	-0.425000	0.07371	-0.218000	0.12543	TAC	RNASE9	-	pfam_RNaseA_domain,superfamily_RNaseA_domain	ENSG00000188655		0.383	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RNASE9	HGNC	protein_coding	OTTHUMT00000411094.1	330	0.00	0	G	NM_001001673		21024983	21024983	-1	no_errors	ENST00000338904	ensembl	human	known	69_37n	nonsense	362	28.68	146	SNP	0.002	T
RNF213	57674	genome.wustl.edu	37	17	78318546	78318546	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:78318546delG	ENST00000582970.1	+	29	6554	c.6411delG	c.(6409-6411)gagfs	p.E2137fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.E2186fs|RNF213_ENST00000336301.6_Frame_Shift_Del_p.E210fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2137					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCCAAAGAGGTGATAGACA	0.488																																						dbGAP											0													138.0	132.0	134.0					17																	78318546		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6411delG	17.37:g.78318546delG	ENSP00000464087:p.Glu2137fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.V2138fs	ENST00000582970.1	37	c.6411	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	166	0.00	0	G	NM_020914		78318546	78318546	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	frame_shift_del	97	28.06	39	DEL	0.879	-
RPL19	6143	genome.wustl.edu	37	17	37359326	37359326	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:37359326G>A	ENST00000225430.4	+	4	382	c.320G>A	c.(319-321)aGa>aAa	p.R107K	RPL19_ENST00000579374.1_Missense_Mutation_p.R104K|RPL19_ENST00000582193.1_Missense_Mutation_p.R105K|RPL19_ENST00000579260.1_Missense_Mutation_p.R105K	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	107					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						CGGCTGCTCAGAAGATACCGT	0.512																																						dbGAP											0													104.0	103.0	103.0					17																	37359326		2019	4163	6182	-	-	-	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.320G>A	17.37:g.37359326G>A	ENSP00000225430:p.Arg107Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	p.R107K	ENST00000225430.4	37	c.320	CCDS42312.1	17	.	.	.	.	.	.	.	.	.	.	g	13.73	2.323169	0.41096	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.28	5.28	0.74379	Ribosomal protein L19/L19e, domain 3 (1);Ribosomal protein L19/L19e (2);	0.000000	0.64402	D	0.000001	T	0.40145	0.1105	N	0.10809	0.05	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23762	-1.0179	9	0.16420	T	0.52	.	18.5157	0.90935	0.0:0.0:1.0:0.0	.	107	P84098	RL19_HUMAN	K	107	.	ENSP00000225430:R107K	R	+	2	0	RPL19	34612852	1.000000	0.71417	0.931000	0.37212	0.131000	0.20780	7.879000	0.87236	2.459000	0.83118	0.557000	0.71058	AGA	RPL19	-	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	ENSG00000108298		0.512	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL19	HGNC	protein_coding	OTTHUMT00000444190.1	113	0.00	0	G	NM_000981		37359326	37359326	+1	no_errors	ENST00000225430	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	1.000	A
RPP14	11102	genome.wustl.edu	37	3	58296293	58296293	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:58296293C>T	ENST00000445193.3	+	3	548	c.137C>T	c.(136-138)tCg>tTg	p.S46L	RPP14_ENST00000295959.5_Missense_Mutation_p.S46L|RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.S46L	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	46					tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		CTGCTTATTTCGGCTGTGAAG	0.388																																						dbGAP											0													86.0	89.0	88.0					3																	58296293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"""ribonuclease P 14kDa subunit"""			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.137C>T	3.37:g.58296293C>T	ENSP00000412894:p.Ser46Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53X97	Missense_Mutation	SNP	pfam_RNase_P/MRP_subunit	p.S46L	ENST00000445193.3	37	c.137	CCDS2888.1	3	.	.	.	.	.	.	.	.	.	.	C	6.080	0.382984	0.11524	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.61	2.33	0.28932	.	0.607871	0.16776	N	0.199992	T	0.40570	0.1122	L	0.60455	1.87	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.28744	-1.0034	9	0.34782	T	0.22	-8.4121	8.3388	0.32230	0.0:0.7078:0.1333:0.1589	.	46	O95059	RPP14_HUMAN	L	46	.	ENSP00000295959:S46L	S	+	2	0	RPP14	58271333	0.007000	0.16637	0.012000	0.15200	0.144000	0.21451	1.167000	0.31847	0.702000	0.31825	0.655000	0.94253	TCG	RPP14	-	pfam_RNase_P/MRP_subunit	ENSG00000163684		0.388	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPP14	HGNC	protein_coding	OTTHUMT00000353527.2	185	0.00	0	C	NM_007042		58296293	58296293	+1	no_errors	ENST00000295959	ensembl	human	known	69_37n	missense	138	29.95	59	SNP	0.001	T
RSG1	79363	genome.wustl.edu	37	1	16560219	16560219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:16560219delA	ENST00000375599.3	-	2	572	c.153delT	c.(151-153)attfs	p.I51fs		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	51	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TGGCAGTGTCAATGGACACAG	0.627																																						dbGAP											0													70.0	63.0	65.0					1																	16560219		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.153delT	1.37:g.16560219delA	ENSP00000364749:p.Ile51fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TEV7	Frame_Shift_Del	DEL	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.I51fs	ENST00000375599.3	37	c.153	CCDS171.1	1																																																																																			RSG1	-	NULL	ENSG00000132881		0.627	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	37	0.00	0	A	NM_030907		16560219	16560219	-1	no_errors	ENST00000375599	ensembl	human	known	69_37n	frame_shift_del	21	12.50	3	DEL	0.464	-
RRP15	51018	genome.wustl.edu	37	1	218480877	218480877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:218480877C>G	ENST00000366932.3	+	4	638	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	203						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAGTTGATATCAACTGTTTCC	0.378																																						dbGAP											0													126.0	121.0	123.0					1																	218480877		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.608C>G	1.37:g.218480877C>G	ENSP00000355899:p.Ser203*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF1665	p.S203*	ENST00000366932.3	37	c.608	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.925945	0.97110	.	.	ENSG00000067533	ENST00000366932	.	.	.	5.87	3.97	0.46021	.	0.197849	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.4556	0.61197	0.1261:0.7529:0.121:0.0	.	.	.	.	X	203	.	ENSP00000355899:S203X	S	+	2	0	RRP15	216547500	1.000000	0.71417	0.037000	0.18230	0.992000	0.81027	5.946000	0.70234	0.901000	0.36495	0.655000	0.94253	TCA	RRP15	-	pfam_DUF1665	ENSG00000067533		0.378	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	91	0.00	0	C	NM_016052		218480877	218480877	+1	no_errors	ENST00000366932	ensembl	human	known	69_37n	nonsense	135	20.59	35	SNP	0.997	G
S100PBP	64766	genome.wustl.edu	37	1	33292196	33292196	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:33292196G>C	ENST00000373475.5	+	3	750	c.496G>C	c.(496-498)Gat>Cat	p.D166H	S100PBP_ENST00000373476.1_Missense_Mutation_p.D166H|S100PBP_ENST00000398243.3_Missense_Mutation_p.D166H|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGACGAGACTGATTCGTCCAA	0.383																																						dbGAP											0													69.0	71.0	71.0					1																	33292196		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.496G>C	1.37:g.33292196G>C	ENSP00000362574:p.Asp166His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D166H	ENST00000373475.5	37	c.496	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811436	0.50527	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000531256	.	.	.	5.32	4.37	0.52481	.	0.552057	0.18332	N	0.144475	T	0.48732	0.1516	N	0.24115	0.695	0.33011	D	0.527535	D;D	0.76494	0.999;0.995	D;P	0.66351	0.943;0.847	T	0.56360	-0.7992	8	.	.	.	-8.019	8.7311	0.34501	0.1086:0.0:0.8914:0.0	.	166;166	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	H	166	.	.	D	+	1	0	S100PBP	33064783	0.994000	0.37717	0.996000	0.52242	0.608000	0.37181	1.766000	0.38491	1.543000	0.49345	0.655000	0.94253	GAT	S100PBP	-	NULL	ENSG00000116497		0.383	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	199	0.00	0	G	NM_022753		33292196	33292196	+1	no_errors	ENST00000373475	ensembl	human	known	69_37n	missense	261	26.20	93	SNP	0.998	C
RYR2	6262	genome.wustl.edu	37	1	237753282	237753282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:237753282C>G	ENST00000366574.2	+	30	4105	c.3788C>G	c.(3787-3789)tCa>tGa	p.S1263*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.S1247*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.S1261*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1263	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAGTTCCATCAAACCATGAA	0.378																																						dbGAP											0													88.0	81.0	83.0					1																	237753282		1853	4104	5957	-	-	-	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3788C>G	1.37:g.237753282C>G	ENSP00000355533:p.Ser1263*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1261*	ENST00000366574.2	37	c.3782	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	43	10.126486	0.99342	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.64	5.64	0.86602	.	0.385400	0.19931	N	0.102869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.3982	0.74816	0.1478:0.8522:0.0:0.0	.	.	.	.	X	1263;1261;1247	.	ENSP00000353174:S1261X	S	+	2	0	RYR2	235819905	0.488000	0.25996	1.000000	0.80357	0.998000	0.95712	1.980000	0.40618	2.645000	0.89757	0.650000	0.86243	TCA	RYR2	-	NULL	ENSG00000198626		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	155	0.00	0	C	NM_001035		237753282	237753282	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	nonsense	147	22.92	44	SNP	0.998	G
SAGE1	55511	genome.wustl.edu	37	X	134987483	134987483	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:134987483C>T	ENST00000370709.3	+	4	386	c.386C>T	c.(385-387)tCa>tTa	p.S129L	SAGE1_ENST00000324447.3_Missense_Mutation_p.S129L|SAGE1_ENST00000537770.1_Missense_Mutation_p.S129L|SAGE1_ENST00000535938.1_Missense_Mutation_p.S129L			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	129						nucleus (GO:0005634)		p.S129*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGTCTTGTCAACTGCTCCA	0.463																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											217.0	140.0	166.0					X																	134987483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.386C>T	X.37:g.134987483C>T	ENSP00000359743:p.Ser129Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Missense_Mutation	SNP	NULL	p.S129L	ENST00000370709.3	37	c.386	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	2.425	-0.332156	0.05314	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.34275	1.37;1.37;1.46;1.37	1.32	-0.759	0.11045	.	0.558099	0.16352	U	0.218173	T	0.20618	0.0496	N	0.24115	0.695	0.09310	N	1	B;P	0.35745	0.018;0.518	B;B	0.39562	0.044;0.303	T	0.11966	-1.0566	10	0.42905	T	0.14	.	2.4934	0.04615	0.0:0.4403:0.3192:0.2405	.	129;129	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	L	129	ENSP00000323191:S129L;ENSP00000445959:S129L;ENSP00000438276:S129L;ENSP00000359743:S129L	ENSP00000323191:S129L	S	+	2	0	SAGE1	134815149	0.445000	0.25657	0.010000	0.14722	0.003000	0.03518	-0.018000	0.12568	-0.356000	0.08187	-0.756000	0.03474	TCA	SAGE1	-	NULL	ENSG00000181433		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	190	0.00	0	C	NM_018666		134987483	134987483	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	264	13.16	40	SNP	0.010	T
SAMD9L	219285	genome.wustl.edu	37	7	92764322	92764322	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:92764322G>C	ENST00000318238.4	-	5	2179	c.963C>G	c.(961-963)ttC>ttG	p.F321L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.F321L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.F321L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	321					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGAATGTAGAAATACTTAT	0.353																																						dbGAP											0													81.0	85.0	84.0					7																	92764322		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.963C>G	7.37:g.92764322G>C	ENSP00000326247:p.Phe321Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.F321L	ENST00000318238.4	37	c.963	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514115	0.27123	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.19394	2.15;2.15;2.15	4.95	3.14	0.36123	.	0.159840	0.42172	D	0.000752	T	0.22859	0.0552	M	0.66939	2.045	0.26143	N	0.980247	B	0.29988	0.264	B	0.30029	0.11	T	0.18335	-1.0340	10	0.87932	D	0	-12.6705	9.2397	0.37489	0.2389:0.0:0.7611:0.0	.	321	Q8IVG5	SAM9L_HUMAN	L	321	ENSP00000326247:F321L;ENSP00000405760:F321L;ENSP00000408796:F321L	ENSP00000326247:F321L	F	-	3	2	SAMD9L	92602258	0.992000	0.36948	0.717000	0.30585	0.155000	0.21991	2.110000	0.41873	0.678000	0.31325	0.460000	0.39030	TTC	SAMD9L	-	NULL	ENSG00000177409		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	849	0.00	0	G	NM_152703		92764322	92764322	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	missense	618	22.04	175	SNP	0.342	C
SASS6	163786	genome.wustl.edu	37	1	100588021	100588021	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:100588021G>A	ENST00000287482.5	-	4	366	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	76	PISA.				centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TCTACCAGAAGACCTTGCTGG	0.294																																						dbGAP											0													68.0	68.0	68.0					1																	100588021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.226C>T	1.37:g.100588021G>A	ENSP00000287482:p.Leu76Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.L76F	ENST00000287482.5	37	c.226	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583911	0.86748	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.44881	0.91	5.92	5.92	0.95590	.	0.059122	0.64402	D	0.000003	T	0.66489	0.2794	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69778	-0.5053	10	0.72032	D	0.01	-13.2956	19.9157	0.97061	0.0:0.0:1.0:0.0	.	76	Q6UVJ0	SAS6_HUMAN	F	76;49	ENSP00000287482:L76F	ENSP00000287482:L76F	L	-	1	0	SASS6	100360609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.413000	0.90235	2.809000	0.96659	0.655000	0.94253	CTT	SASS6	-	NULL	ENSG00000156876		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	112	0.00	0	G	NM_194292		100588021	100588021	-1	no_errors	ENST00000287482	ensembl	human	known	69_37n	missense	120	31.82	56	SNP	1.000	A
SDC1	6382	genome.wustl.edu	37	2	20403830	20403831	+	Frame_Shift_Ins	INS	-	-	G	rs375790781		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:20403830_20403831insG	ENST00000254351.4	-	3	614_615	c.370_371insC	c.(370-372)cgafs	p.R124fs	SDC1_ENST00000403076.1_Frame_Shift_Ins_p.R124fs|SDC1_ENST00000381150.1_Frame_Shift_Ins_p.R124fs|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	124					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.R124*(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCCCTGGGTCGGGGGGTGGCC	0.703																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.371dupC	2.37:g.20403836_20403836dupG	ENSP00000254351:p.Arg124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W523|Q53QV0|Q546D3|Q96HB7	Frame_Shift_Ins	INS	pfam_Syndecan,smart_Neurexin-like	p.R124fs	ENST00000254351.4	37	c.371_370	CCDS1697.1	2																																																																																			SDC1	-	pfam_Syndecan	ENSG00000115884		0.703	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	33	0.00	0	-	NM_001006946		20403830	20403831	-1	no_errors	ENST00000254351	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.001:0.001	G
SDCCAG8	10806	genome.wustl.edu	37	1	243542029	243542029	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:243542029G>C	ENST00000366541.3	+	13	1598	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E451Q|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E349Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	494	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.E494Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAGGAAATAGAGAAATTGAG	0.388																																						dbGAP											1	Substitution - Missense(1)	lung(1)											81.0	81.0	81.0					1																	243542029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1480G>C	1.37:g.243542029G>C	ENSP00000355499:p.Glu494Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.E494Q	ENST00000366541.3	37	c.1480	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119328	0.56505	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.50277	0.82;0.77;0.77;0.75	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	N	0.19112	0.55	0.44570	D	0.997538	P;P	0.45715	0.865;0.865	P;P	0.46585	0.521;0.521	T	0.10870	-1.0611	10	0.18276	T	0.48	-14.8408	19.9525	0.97208	0.0:0.0:1.0:0.0	.	451;494	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	Q	451;494;349;274	ENSP00000348137:E451Q;ENSP00000355499:E494Q;ENSP00000341260:E349Q;ENSP00000410200:E274Q	ENSP00000341260:E349Q	E	+	1	0	SDCCAG8	241608652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.719000	0.93026	0.655000	0.94253	GAG	SDCCAG8	-	NULL	ENSG00000054282		0.388	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	146	0.00	0	G	NM_006642		243542029	243542029	+1	no_errors	ENST00000366541	ensembl	human	known	69_37n	missense	276	19.30	66	SNP	1.000	C
SERPINA5	5104	genome.wustl.edu	37	14	95053915	95053915	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:95053915C>G	ENST00000554866.1	+	2	330	c.216C>G	c.(214-216)atC>atG	p.I72M	SERPINA5_ENST00000554276.1_Missense_Mutation_p.I72M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.I72M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.I72M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	72					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTGTGAGCATCTCCATGAGCC	0.612																																						dbGAP											0													32.0	32.0	32.0					14																	95053915		2203	4300	6503	-	-	-	SO:0001583	missense	0			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.216C>G	14.37:g.95053915C>G	ENSP00000451126:p.Ile72Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07616|Q9UG30	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.I72M	ENST00000554866.1	37	c.216	CCDS9928.1	14	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017960	0.19355	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554633;ENST00000555681;ENST00000554276;ENST00000557598	D;D;D;D;D;T;T;T;T;D;T	0.91351	-2.26;-2.26;-2.83;-2.26;-2.26;-1.46;-1.46;-1.46;-1.46;-2.26;-1.46	4.11	2.11	0.27256	Serpin domain (3);	0.301944	0.27384	N	0.019604	D	0.93772	0.8009	M	0.84511	2.7	0.20563	N	0.99989	D;D	0.67145	0.986;0.996	D;D	0.69307	0.938;0.963	D	0.86073	0.1539	10	0.87932	D	0	.	5.0748	0.14625	0.0:0.551:0.2348:0.2142	.	72;72	G3V5Q9;P05154	.;IPSP_HUMAN	M	72	ENSP00000450484:I72M;ENSP00000450837:I72M;ENSP00000452469:I72M;ENSP00000451126:I72M;ENSP00000333203:I72M;ENSP00000450745:I72M;ENSP00000451215:I72M;ENSP00000451697:I72M;ENSP00000451650:I72M;ENSP00000451610:I72M;ENSP00000450485:I72M	ENSP00000333203:I72M	I	+	3	3	SERPINA5	94123668	0.906000	0.30813	0.090000	0.20809	0.005000	0.04900	0.227000	0.17795	0.389000	0.25086	0.561000	0.74099	ATC	SERPINA5	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000188488		0.612	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	160	0.00	0	C	NM_000624		95053915	95053915	+1	no_errors	ENST00000329597	ensembl	human	known	69_37n	missense	149	25.37	51	SNP	0.337	G
SESN2	83667	genome.wustl.edu	37	1	28601371	28601371	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:28601371C>G	ENST00000253063.3	+	8	1377	c.1056C>G	c.(1054-1056)atC>atG	p.I352M		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	352					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGCTGATCCAGCGGCTTT	0.557																																						dbGAP											0													101.0	97.0	98.0					1																	28601371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1056C>G	1.37:g.28601371C>G	ENSP00000253063:p.Ile352Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.I352M	ENST00000253063.3	37	c.1056	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824296	0.50739	.	.	ENSG00000130766	ENST00000253063	T	0.21734	1.99	5.34	3.48	0.39840	.	0.171075	0.51477	D	0.000088	T	0.18593	0.0446	N	0.16166	0.38	0.40324	D	0.978857	P	0.50943	0.94	P	0.57152	0.814	T	0.10359	-1.0633	10	0.26408	T	0.33	-18.6078	5.9054	0.18998	0.1535:0.6853:0.0:0.1612	.	352	P58004	SESN2_HUMAN	M	352	ENSP00000253063:I352M	ENSP00000253063:I352M	I	+	3	3	SESN2	28473958	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	0.623000	0.24447	0.636000	0.30508	0.655000	0.94253	ATC	SESN2	-	pfam_PA26	ENSG00000130766		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	132	0.00	0	C			28601371	28601371	+1	no_errors	ENST00000253063	ensembl	human	known	69_37n	missense	143	24.34	46	SNP	1.000	G
SEZ6L2	26470	genome.wustl.edu	37	16	29907123	29907123	+	Silent	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:29907123C>A	ENST00000308713.5	-	4	1097	c.570G>T	c.(568-570)ggG>ggT	p.G190G	SEZ6L2_ENST00000537485.1_Silent_p.G146G|SEZ6L2_ENST00000350527.3_Silent_p.G120G|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	190	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACGGGGCTCCCCAGATCTG	0.552																																						dbGAP											0													70.0	72.0	72.0					16																	29907123		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.570G>T	16.37:g.29907123C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G190	ENST00000308713.5	37	c.570	CCDS10659.1	16																																																																																			SEZ6L2	-	superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000174938		0.552	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	43	0.00	0	C	NM_012410		29907123	29907123	-1	no_errors	ENST00000308713	ensembl	human	known	69_37n	silent	54	22.86	16	SNP	0.388	A
SFRP4	6424	genome.wustl.edu	37	7	37951790	37951790	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:37951790G>C	ENST00000436072.2	-	4	1099	c.722C>G	c.(721-723)tCt>tGt	p.S241C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	241	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGCAAGAAGAATTTGTAAT	0.493																																						dbGAP											0													228.0	210.0	216.0					7																	37951790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.722C>G	7.37:g.37951790G>C	ENSP00000410715:p.Ser241Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.S241C	ENST00000436072.2	37	c.722	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814440	0.90790	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.24908	1.83;1.83	5.9	5.9	0.94986	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.62723	1.935	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.48007	-0.9072	10	0.87932	D	0	.	19.0576	0.93072	0.0:0.0:1.0:0.0	.	241	Q6FHJ7	SFRP4_HUMAN	C	241;238;107	ENSP00000410715:S241C;ENSP00000402262:S107C	ENSP00000410715:S241C	S	-	2	0	SFRP4	37918315	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.033000	0.93741	2.786000	0.95864	0.650000	0.86243	TCT	SFRP4	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000106483		0.493	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	125	0.00	0	G	NM_003014		37951790	37951790	-1	no_errors	ENST00000436072	ensembl	human	known	69_37n	missense	83	22.43	24	SNP	1.000	C
SIGLEC7	27036	genome.wustl.edu	37	19	51647792	51647792	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:51647792C>G	ENST00000317643.6	+	2	632	c.563C>G	c.(562-564)tCt>tGt	p.S188C	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	188	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATGGGGACCTCTGTGTCCCCC	0.657																																						dbGAP											0													94.0	93.0	94.0					19																	51647792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.563C>G	19.37:g.51647792C>G	ENSP00000323328:p.Ser188Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S188C	ENST00000317643.6	37	c.563	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	12.85	2.062789	0.36373	.	.	ENSG00000168995	ENST00000317643	T	0.03607	3.87	2.9	2.9	0.33743	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.410909	0.17877	N	0.158999	T	0.12220	0.0297	M	0.63428	1.95	0.26333	N	0.977481	D	0.54601	0.967	D	0.64506	0.926	T	0.01290	-1.1394	10	0.87932	D	0	.	9.5516	0.39313	0.0:1.0:0.0:0.0	.	188	Q9Y286	SIGL7_HUMAN	C	188	ENSP00000323328:S188C	ENSP00000323328:S188C	S	+	2	0	SIGLEC7	56339604	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.554000	0.23407	1.665000	0.50811	0.530000	0.56133	TCT	SIGLEC7	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000168995		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	115	0.00	0	C	NM_016543		51647792	51647792	+1	no_errors	ENST00000317643	ensembl	human	known	69_37n	missense	191	12.33	27	SNP	0.002	G
SLC22A20	440044	genome.wustl.edu	37	11	65004310	65004310	+	RNA	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:65004310G>A	ENST00000525437.1	+	0	1560							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CGTCCTGACCGAGACCCGCAA	0.627																																						dbGAP											0													62.0	68.0	66.0					11																	65004310		2076	4192	6268	-	-	-			0			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004310G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-	ENSG00000197847		0.627	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	40	0.00	0	G	NM_001004326		65004310	65004310	+1	no_errors	ENST00000525437	ensembl	human	known	69_37n	rna	34	26.09	12	SNP	0.999	A
SLC22A23	63027	genome.wustl.edu	37	6	3298444	3298444	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr6:3298444G>A	ENST00000406686.3	-	5	1090	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	SLC22A23_ENST00000436008.2_Missense_Mutation_p.P364L|SLC22A23_ENST00000490273.1_Missense_Mutation_p.P83L|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.P83L	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	364					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GAGGGACTCGGGGAATATCCT	0.562																																						dbGAP											0													86.0	80.0	82.0					6																	3298444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1091C>T	6.37:g.3298444G>A	ENSP00000385028:p.Pro364Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P364L	ENST00000406686.3	37	c.1091	CCDS47363.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965760	0.74131	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108387	0.64402	D	0.000005	D	0.85936	0.5813	L	0.43646	1.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	D	0.87240	0.2266	10	0.72032	D	0.01	-24.6245	17.316	0.87224	0.0:0.0:1.0:0.0	.	364;364	C9J4Z0;A1A5C7	.;S22AN_HUMAN	L	364;364;83;83;192;190	ENSP00000410245:P364L;ENSP00000385028:P364L;ENSP00000369657:P83L;ENSP00000419463:P83L;ENSP00000418134:P192L;ENSP00000418985:P190L	ENSP00000369657:P83L	P	-	2	0	SLC22A23	3243443	1.000000	0.71417	0.968000	0.41197	0.897000	0.52465	8.358000	0.90090	2.614000	0.88457	0.561000	0.74099	CCC	SLC22A23	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000137266		0.562	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	SLC22A23	HGNC	protein_coding	OTTHUMT00000353059.1	108	0.00	0	G	NM_021945		3298444	3298444	-1	no_errors	ENST00000406686	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	0.999	A
SLC25A20	788	genome.wustl.edu	37	3	48896002	48896002	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr3:48896002C>T	ENST00000319017.4	-	8	979	c.781G>A	c.(781-783)Gga>Aga	p.G261R	SLC25A20_ENST00000430379.1_Missense_Mutation_p.G188R|SLC25A20_ENST00000544097.1_Missense_Mutation_p.G211R	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	261					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GATGTGACTCCTTCATCCCGG	0.532																																						dbGAP											0													148.0	127.0	134.0					3																	48896002		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.781G>A	3.37:g.48896002C>T	ENSP00000326305:p.Gly261Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F4|Q9UIQ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G261R	ENST00000319017.4	37	c.781	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.290446	0.95546	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	D;D;D	0.97642	-4.47;-4.47;-4.47	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98934	1.0788	10	0.87932	D	0	-13.8805	19.3292	0.94278	0.0:1.0:0.0:0.0	.	188;261	C9JPE1;O43772	.;MCAT_HUMAN	R	188;261;211	ENSP00000388986:G188R;ENSP00000326305:G261R;ENSP00000438731:G211R	ENSP00000326305:G261R	G	-	1	0	SLC25A20	48871006	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	7.516000	0.81772	2.672000	0.90937	0.650000	0.86243	GGA	SLC25A20	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000178537		0.532	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	HGNC	protein_coding	OTTHUMT00000257516.2	54	0.00	0	C	NM_000387		48896002	48896002	-1	no_errors	ENST00000319017	ensembl	human	known	69_37n	missense	81	13.83	13	SNP	1.000	T
SLC30A4	7782	genome.wustl.edu	37	15	45778900	45778900	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:45778900C>G	ENST00000261867.4	-	7	1358	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	348					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTATTTTCATCAAGGCTTCTT	0.308																																						dbGAP											0													133.0	149.0	144.0					15																	45778900		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1044G>C	15.37:g.45778900C>G	ENSP00000261867:p.Leu348Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC39	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L348F	ENST00000261867.4	37	c.1044	CCDS10125.1	15	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444947	0.63178	.	.	ENSG00000104154	ENST00000261867	T	0.70749	-0.51	5.57	5.57	0.84162	.	0.064020	0.64402	D	0.000008	D	0.85026	0.5603	M	0.80746	2.51	0.46542	D	0.999092	D	0.89917	1.0	D	0.91635	0.999	D	0.84899	0.0841	10	0.45353	T	0.12	-9.9635	18.1174	0.89561	0.0:1.0:0.0:0.0	.	348	O14863	ZNT4_HUMAN	F	348	ENSP00000261867:L348F	ENSP00000261867:L348F	L	-	3	2	SLC30A4	43566192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.821000	0.39041	2.629000	0.89072	0.573000	0.79308	TTG	SLC30A4	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000104154		0.308	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1	323	0.00	0	C			45778900	45778900	-1	no_errors	ENST00000261867	ensembl	human	known	69_37n	missense	437	26.88	161	SNP	1.000	G
SLC6A10P	386757	genome.wustl.edu	37	16	32891004	32891004	+	RNA	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:32891004G>A	ENST00000330048.5	-	0	2962					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GCCACTGGCTGAGTAGTAGTC	0.622																																						dbGAP											0																																										-	-	-			0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32891004G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.622	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	34	0.00	0	G			32891004	32891004	-1	no_errors	ENST00000330048	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.995	A
SNHG14	104472715	genome.wustl.edu	37	15	25494388	25494388	+	RNA	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:25494388G>A	ENST00000453082.2	+	0	5792				SNHG14_ENST00000452731.1_RNA|SNORD115-44_ENST00000365391.1_RNA|SNORD115-42_ENST00000364273.1_RNA|SNORD115-43_ENST00000365503.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGAGGTGATGACTTAAAAAT	0.517																																						dbGAP											0													453.0	452.0	452.0					15																	25494388		876	1989	2865	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25494388G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-43	-	-	ENSG00000202373		0.517	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-43	HGNC	processed_transcript	OTTHUMT00000126730.2	331	0.30	1	G			25494388	25494388	+1	no_errors	ENST00000365503	ensembl	human	known	69_37n	rna	106	27.40	40	SNP	0.988	A
SPATA4	132851	genome.wustl.edu	37	4	177113882	177113882	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:177113882G>A	ENST00000280191.2	-	4	692	c.584C>T	c.(583-585)tCa>tTa	p.S195L	SPATA4_ENST00000515234.1_Missense_Mutation_p.S22L	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	195						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAGTAATTCTGATAACCTAAT	0.373																																						dbGAP											0													81.0	82.0	82.0					4																	177113882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.584C>T	4.37:g.177113882G>A	ENSP00000280191:p.Ser195Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCS5|Q8WW15	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.S195L	ENST00000280191.2	37	c.584	CCDS3826.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049962	0.75846	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.23754	1.89	5.27	5.27	0.74061	.	0.214168	0.37304	N	0.002141	T	0.34861	0.0912	L	0.53249	1.67	0.24834	N	0.992506	P	0.44946	0.846	P	0.47118	0.538	T	0.23261	-1.0193	10	0.72032	D	0.01	-17.5849	16.1586	0.81681	0.0:0.0:1.0:0.0	.	195	Q8NEY3	SPAT4_HUMAN	L	195;22	ENSP00000280191:S195L	ENSP00000280191:S195L	S	-	2	0	SPATA4	177350876	0.938000	0.31826	0.556000	0.28293	0.977000	0.68977	4.278000	0.58946	2.622000	0.88805	0.655000	0.94253	TCA	SPATA4	-	pfam_DUF1042	ENSG00000150628		0.373	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	83	0.00	0	G	NM_144644		177113882	177113882	-1	no_errors	ENST00000280191	ensembl	human	known	69_37n	missense	39	43.48	30	SNP	0.507	A
SPIC	121599	genome.wustl.edu	37	12	101876615	101876615	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr12:101876615C>G	ENST00000551346.1	+	5	415	c.256C>G	c.(256-258)Ctg>Gtg	p.L86V	SPIC_ENST00000299272.5_Missense_Mutation_p.L86V			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	86					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TCATCAATCTCTGCAGAACAT	0.403																																						dbGAP											0													137.0	147.0	143.0					12																	101876615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.256C>G	12.37:g.101876615C>G	ENSP00000448580:p.Leu86Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L86V	ENST00000551346.1	37	c.256	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241653	0.10077	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.23754	1.89;1.89	5.32	3.47	0.39725	.	0.542768	0.18905	N	0.127927	T	0.17831	0.0428	L	0.37630	1.12	0.28534	N	0.912451	B	0.12630	0.006	B	0.12156	0.007	T	0.25467	-1.0131	10	0.13108	T	0.6	-2.9581	9.5716	0.39431	0.0:0.7828:0.1415:0.0757	.	86	Q8N5J4	SPIC_HUMAN	V	86	ENSP00000448580:L86V;ENSP00000299272:L86V	ENSP00000299272:L86V	L	+	1	2	SPIC	100400746	0.967000	0.33354	0.422000	0.26621	0.258000	0.26162	2.269000	0.43346	0.608000	0.30000	0.561000	0.74099	CTG	SPIC	-	NULL	ENSG00000166211		0.403	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	337	0.00	0	C	NM_152323		101876615	101876615	+1	no_errors	ENST00000299272	ensembl	human	known	69_37n	missense	459	13.37	71	SNP	0.978	G
SPTBN2	6712	genome.wustl.edu	37	11	66468703	66468703	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:66468703G>C	ENST00000533211.1	-	17	3198	c.2867C>G	c.(2866-2868)tCa>tGa	p.S956*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.S956*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.S956*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	956					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTCAGGGCTGAGGTGAGAGC	0.602																																						dbGAP											0													40.0	39.0	39.0					11																	66468703		2200	4295	6495	-	-	-	SO:0001587	stop_gained	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2867C>G	11.37:g.66468703G>C	ENSP00000432568:p.Ser956*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.S956*	ENST00000533211.1	37	c.2867	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.182420	0.99354	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.4689	0.84094	0.0:0.0:1.0:0.0	.	.	.	.	X	956	.	ENSP00000311489:S956X	S	-	2	0	SPTBN2	66225279	1.000000	0.71417	0.952000	0.39060	0.968000	0.65278	9.595000	0.98260	2.424000	0.82194	0.491000	0.48974	TCA	SPTBN2	-	pirsf_Spectrin_bsu	ENSG00000173898		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	15	0.00	0	G	NM_006946		66468703	66468703	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	nonsense	14	30.00	6	SNP	0.989	C
SRCAP	10847	genome.wustl.edu	37	16	30747578	30747578	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:30747578G>A	ENST00000262518.4	+	32	7172	c.6787G>A	c.(6787-6789)Gaa>Aaa	p.E2263K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E2105K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2201K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2263	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCAAGGCTGAACAGGTGGC	0.522																																						dbGAP											0													79.0	77.0	78.0					16																	30747578		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6787G>A	16.37:g.30747578G>A	ENSP00000262518:p.Glu2263Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.E2263K	ENST00000262518.4	37	c.6787	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778485	0.70107	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94723	-3.46;-3.46;-3.5	5.23	5.23	0.72850	.	0.244243	0.28677	N	0.014512	D	0.96932	0.8998	M	0.71036	2.16	0.47153	D	0.999339	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.97201	0.9864	10	0.72032	D	0.01	-9.4941	17.7328	0.88383	0.0:0.0:1.0:0.0	.	2201;2263	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	2263;2201;2105	ENSP00000262518:E2263K;ENSP00000378499:E2201K;ENSP00000343042:E2105K	ENSP00000262518:E2263K	E	+	1	0	SRCAP	30655079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.714000	0.92807	0.563000	0.77884	GAA	SRCAP	-	NULL	ENSG00000080603		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	52	0.00	0	G	NM_006662		30747578	30747578	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	80	20.00	20	SNP	1.000	A
STYXL1	51657	genome.wustl.edu	37	7	75634621	75634621	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:75634621C>G	ENST00000248600.1	-	6	897	c.555G>C	c.(553-555)ttG>ttC	p.L185F	STYXL1_ENST00000431581.1_Missense_Mutation_p.L185F|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.L89F|STYXL1_ENST00000451157.1_Missense_Mutation_p.L185F|STYXL1_ENST00000359697.3_Missense_Mutation_p.L185F	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	185	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTTTGATTTTCAAGTCCTTCT	0.383																																						dbGAP											0													97.0	93.0	95.0					7																	75634621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.555G>C	7.37:g.75634621C>G	ENSP00000248600:p.Leu185Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.L185F	ENST00000248600.1	37	c.555	CCDS5580.1	7	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381131	0.61845	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.26	5.26	0.73747	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.66247	0.2770	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.984;0.987;0.951;0.998;0.993	T	0.70550	-0.4841	10	0.45353	T	0.12	-18.75	16.3769	0.83409	0.0:1.0:0.0:0.0	.	185;185;185;89;185	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;.;STYL1_HUMAN	F	185;185;89;185;185;140;185	ENSP00000248600:L185F;ENSP00000352726:L185F;ENSP00000343383:L89F;ENSP00000392221:L185F;ENSP00000406073:L140F;ENSP00000411812:L185F	ENSP00000248600:L185F	L	-	3	2	STYXL1	75472557	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.440000	0.44855	2.457000	0.83068	0.650000	0.86243	TTG	STYXL1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000127952		0.383	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	110	0.00	0	C	NM_016086		75634621	75634621	-1	no_errors	ENST00000248600	ensembl	human	known	69_37n	missense	176	23.81	55	SNP	1.000	G
SWI5	375757	genome.wustl.edu	37	9	131050994	131050994	+	Nonstop_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr9:131050994G>C	ENST00000320188.5	+	5	707	c.707G>C	c.(706-708)tGa>tCa	p.*236S	SWI5_ENST00000608796.1_Nonstop_Mutation_p.*171S|SWI5_ENST00000418976.1_Nonstop_Mutation_p.*131S|SWI5_ENST00000495313.1_Nonstop_Mutation_p.*140S	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	0					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											ATGAATGACTGAGCAGGCTCA	0.547																																						dbGAP											0													138.0	133.0	135.0					9																	131050994		2104	4211	6315	-	-	-	SO:0001578	stop_lost	0			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.707G>C	9.37:g.131050994G>C	ENSP00000316609:p.*236Serext*?	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYX7|Q5SYX8|Q8N2W6	Nonstop_Mutation	SNP	pfam_DNA-repair_Swi5	p.*236S	ENST00000320188.5	37	c.707	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666887	0.67814	.	.	ENSG00000175854	ENST00000320188	.	.	.	5.84	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0072	0.47641	0.1725:0.0:0.8275:0.0	.	.	.	.	S	236	.	.	X	+	2	2	SWI5	130090815	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.742000	0.47434	1.478000	0.48253	0.491000	0.48974	TGA	SWI5	-	NULL	ENSG00000175854		0.547	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		150	0.00	0	G	NM_001040011		131050994	131050994	+1	no_errors	ENST00000320188	ensembl	human	known	69_37n	nonstop	254	27.56	97	SNP	0.998	C
SYDE1	85360	genome.wustl.edu	37	19	15224573	15224573	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:15224573C>A	ENST00000342784.2	+	8	2038	c.2007C>A	c.(2005-2007)ttC>ttA	p.F669L	SYDE1_ENST00000600252.1_Missense_Mutation_p.F326L|SYDE1_ENST00000600440.1_Missense_Mutation_p.F602L	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	669					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCGGGATTTCCTGTCCGGGC	0.697																																						dbGAP											0													75.0	84.0	81.0					19																	15224573		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2007C>A	19.37:g.15224573C>A	ENSP00000341489:p.Phe669Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F669L	ENST00000342784.2	37	c.2007	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132307	0.37630	.	.	ENSG00000105137	ENST00000342784	T	0.53423	0.62	5.2	1.46	0.22682	.	0.152639	0.44902	D	0.000402	T	0.51312	0.1667	L	0.57536	1.79	0.25403	N	0.988425	P;D;P	0.67145	0.629;0.996;0.774	B;P;B	0.55999	0.306;0.789;0.306	T	0.41734	-0.9492	10	0.40728	T	0.16	.	7.3586	0.26733	0.0:0.6851:0.0:0.3149	.	602;602;669	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	L	669	ENSP00000341489:F669L	ENSP00000341489:F669L	F	+	3	2	SYDE1	15085573	0.995000	0.38212	0.991000	0.47740	0.430000	0.31655	0.386000	0.20702	0.092000	0.17331	0.491000	0.48974	TTC	SYDE1	-	NULL	ENSG00000105137		0.697	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	78	0.00	0	C	NM_033025		15224573	15224573	+1	no_errors	ENST00000342784	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	A
TACC2	10579	genome.wustl.edu	37	10	123842796	123842796	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:123842796G>A	ENST00000369005.1	+	4	1121	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TACC2_ENST00000515273.1_Missense_Mutation_p.E261K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E261K|TACC2_ENST00000334433.3_Missense_Mutation_p.E261K|TACC2_ENST00000453444.2_Missense_Mutation_p.E261K|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	261					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAGGGCACAGAAAGCTCAGC	0.622																																						dbGAP											0													45.0	52.0	50.0					10																	123842796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.781G>A	10.37:g.123842796G>A	ENSP00000358001:p.Glu261Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E261K	ENST00000369005.1	37	c.781	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857310	0.51376	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04049	3.77;3.73;3.72;3.77;3.73	5.77	3.86	0.44501	.	0.444320	0.16754	N	0.200895	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29988	0.264;0.264;0.264	B;B;B	0.28305	0.088;0.088;0.088	T	0.40213	-0.9575	10	0.40728	T	0.16	-8.9252	8.5535	0.33467	0.0814:0.2989:0.6197:0.0	.	261;261;261	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	K	261;261;261;261;261;251	ENSP00000358001:E261K;ENSP00000424467:E261K;ENSP00000427618:E261K;ENSP00000334280:E261K;ENSP00000395048:E261K	ENSP00000334280:E261K	E	+	1	0	TACC2	123832786	0.002000	0.14202	0.005000	0.12908	0.003000	0.03518	0.772000	0.26647	1.398000	0.46701	0.555000	0.69702	GAA	TACC2	-	NULL	ENSG00000138162		0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	41	0.00	0	G			123842796	123842796	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	0.002	A
TACC2	10579	genome.wustl.edu	37	10	123843603	123843603	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:123843603G>A	ENST00000369005.1	+	4	1928	c.1588G>A	c.(1588-1590)Gca>Aca	p.A530T	TACC2_ENST00000515273.1_Missense_Mutation_p.A530T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A530T|TACC2_ENST00000334433.3_Missense_Mutation_p.A530T|TACC2_ENST00000453444.2_Missense_Mutation_p.A530T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	530	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAACCAGGAGCACCACCCCC	0.602																																						dbGAP											0													146.0	133.0	137.0					10																	123843603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1588G>A	10.37:g.123843603G>A	ENSP00000358001:p.Ala530Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.A530T	ENST00000369005.1	37	c.1588	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.489092	0.01018	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03152	4.05;4.03;4.04;4.05;4.03	.	.	.	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B;P	0.36222	0.024;0.006;0.544	B;B;B	0.26094	0.005;0.002;0.066	T	0.47560	-0.9108	8	0.46703	T	0.11	3.0639	5.3027	0.15788	1.0E-4:0.0:0.9999:0.0	.	530;530;530	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	530;530;530;530;530;520	ENSP00000358001:A530T;ENSP00000424467:A530T;ENSP00000427618:A530T;ENSP00000334280:A530T;ENSP00000395048:A530T	ENSP00000334280:A530T	A	+	1	0	TACC2	123833593	0.000000	0.05858	0.017000	0.16124	0.041000	0.13682	-1.486000	0.02312	-0.000000	0.14550	0.000000	0.15137	GCA	TACC2	-	NULL	ENSG00000138162		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	127	0.00	0	G			123843603	123843603	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	85	25.44	29	SNP	0.018	A
TACC2	10579	genome.wustl.edu	37	10	123844256	123844256	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:123844256G>A	ENST00000369005.1	+	4	2581	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	TACC2_ENST00000515273.1_Missense_Mutation_p.M747I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.M747I|TACC2_ENST00000334433.3_Missense_Mutation_p.M747I|TACC2_ENST00000453444.2_Missense_Mutation_p.M747I|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	747					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TAAGGAAGATGGGCAGCTGTG	0.542																																						dbGAP											0													68.0	79.0	75.0					10																	123844256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2241G>A	10.37:g.123844256G>A	ENSP00000358001:p.Met747Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.M747I	ENST00000369005.1	37	c.2241	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	9.372	1.070734	0.20147	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02944	4.11;4.1;4.1;4.11;4.1	4.41	-8.83	0.00806	.	2.793500	0.01583	N	0.021176	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.12156	0.007;0.007;0.007	T	0.41179	-0.9523	10	0.56958	D	0.05	.	0.8355	0.01139	0.2232:0.1844:0.3344:0.258	.	747;747;747	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	747;747;747;747;747;737	ENSP00000358001:M747I;ENSP00000424467:M747I;ENSP00000427618:M747I;ENSP00000334280:M747I;ENSP00000395048:M747I	ENSP00000334280:M747I	M	+	3	0	TACC2	123834246	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.410000	0.02480	-2.379000	0.00595	-1.083000	0.02208	ATG	TACC2	-	NULL	ENSG00000138162		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	79	0.00	0	G			123844256	123844256	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.000	A
TACC2	10579	genome.wustl.edu	37	10	123844803	123844803	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:123844803G>C	ENST00000369005.1	+	4	3128	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	TACC2_ENST00000515273.1_Missense_Mutation_p.E930Q|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E930Q|TACC2_ENST00000334433.3_Missense_Mutation_p.E930Q|TACC2_ENST00000453444.2_Missense_Mutation_p.E930Q|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	930					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCTGACAGAAGAGTCAGAATT	0.537																																						dbGAP											0													100.0	100.0	100.0					10																	123844803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2788G>C	10.37:g.123844803G>C	ENSP00000358001:p.Glu930Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E930Q	ENST00000369005.1	37	c.2788	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	6.740	0.505375	0.12822	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03035	4.08;4.07;4.07;4.08;4.07	4.36	-3.21	0.05140	.	2.084730	0.02414	N	0.081935	T	0.01661	0.0053	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45160	-0.9280	10	0.15066	T	0.55	5.575	6.6514	0.22965	0.3167:0.3826:0.3007:0.0	.	930;930;930	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	Q	930;930;930;930;930;920	ENSP00000358001:E930Q;ENSP00000424467:E930Q;ENSP00000427618:E930Q;ENSP00000334280:E930Q;ENSP00000395048:E930Q	ENSP00000334280:E930Q	E	+	1	0	TACC2	123834793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.719000	0.04974	-0.429000	0.07329	-0.272000	0.10252	GAG	TACC2	-	NULL	ENSG00000138162		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	107	0.00	0	G			123844803	123844803	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	56	34.12	29	SNP	0.000	C
TACC2	10579	genome.wustl.edu	37	10	123846143	123846143	+	Missense_Mutation	SNP	G	G	C	rs370022515		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:123846143G>C	ENST00000369005.1	+	4	4468	c.4128G>C	c.(4126-4128)agG>agC	p.R1376S	TACC2_ENST00000515273.1_Missense_Mutation_p.R1376S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R1376S|TACC2_ENST00000334433.3_Missense_Mutation_p.R1376S|TACC2_ENST00000453444.2_Missense_Mutation_p.R1376S|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1376					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATGGAGAGGATGGGAGAGC	0.607																																						dbGAP											0													120.0	88.0	99.0					10																	123846143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4128G>C	10.37:g.123846143G>C	ENSP00000358001:p.Arg1376Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.R1376S	ENST00000369005.1	37	c.4128	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415317	0.25552	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04454	3.7;3.62;3.67;3.7;3.62	4.82	1.92	0.25849	.	0.438735	0.17088	N	0.187514	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.16289	0.015;0.015;0.015	T	0.41734	-0.9492	10	0.49607	T	0.09	-2.0946	4.4814	0.11769	0.2752:0.1646:0.5601:0.0	.	1376;1376;1376	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	1376;1376;1376;1376;1376;1366	ENSP00000358001:R1376S;ENSP00000424467:R1376S;ENSP00000427618:R1376S;ENSP00000334280:R1376S;ENSP00000395048:R1376S	ENSP00000334280:R1376S	R	+	3	2	TACC2	123836133	0.006000	0.16342	0.000000	0.03702	0.118000	0.20060	0.478000	0.22212	0.103000	0.17682	0.448000	0.29417	AGG	TACC2	-	NULL	ENSG00000138162		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	42	0.00	0	G			123846143	123846143	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	0.000	C
TCERG1	10915	genome.wustl.edu	37	5	145888737	145888737	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:145888737C>T	ENST00000296702.5	+	21	3062	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	TCERG1_ENST00000394421.2_Silent_p.I987I	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1008	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAATATATCAGAGACAAAT	0.284																																						dbGAP											0													63.0	69.0	67.0					5																	145888737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3024C>T	5.37:g.145888737C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.I1008	ENST00000296702.5	37	c.3024	CCDS4282.1	5																																																																																			TCERG1	-	superfamily_FF_domain,smart_FF_domain	ENSG00000113649		0.284	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	138	0.00	0	C	NM_001040006		145888737	145888737	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	silent	148	28.50	59	SNP	1.000	T
THADA	63892	genome.wustl.edu	37	2	43657437	43657437	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:43657437T>A	ENST00000405006.4	-	27	4192	c.3841A>T	c.(3841-3843)Aca>Tca	p.T1281S	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.T962S|THADA_ENST00000330266.7_Missense_Mutation_p.T991S|THADA_ENST00000405975.2_Missense_Mutation_p.T1281S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1281										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCTCCCTGTCATTCTGTGA	0.343																																						dbGAP											0													44.0	41.0	42.0					2																	43657437		1780	4003	5783	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3841A>T	2.37:g.43657437T>A	ENSP00000385995:p.Thr1281Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.T1281S	ENST00000405006.4	37	c.3841	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512037	0.44660	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000415080;ENST00000405006	T;T;T;T	0.64260	-0.09;-0.09;-0.07;-0.09	5.31	5.31	0.75309	Armadillo-type fold (1);	0.048297	0.85682	D	0.000000	T	0.48352	0.1495	L	0.28014	0.82	0.40836	D	0.983637	D;P;P	0.57571	0.98;0.925;0.835	B;B;B	0.44278	0.445;0.279;0.091	T	0.44922	-0.9296	10	0.23302	T	0.38	.	10.1122	0.42570	0.15:0.0:0.0:0.85	.	960;962;1281	Q6YHU6-2;C9JJB1;Q6YHU6	.;.;THADA_HUMAN	S	991;1281;962;1281	ENSP00000331105:T991S;ENSP00000386088:T1281S;ENSP00000416048:T962S;ENSP00000385995:T1281S	ENSP00000331105:T991S	T	-	1	0	THADA	43510941	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.205000	0.58466	2.243000	0.73865	0.533000	0.62120	ACA	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.343	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	12	0.00	0	T	NM_022065		43657437	43657437	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	A
THOC6	79228	genome.wustl.edu	37	16	3075810	3075810	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:3075810G>A	ENST00000326266.8	+	2	437	c.141G>A	c.(139-141)caG>caA	p.Q47Q	THOC6_ENST00000253952.9_Silent_p.Q47Q|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Silent_p.Q23Q|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Silent_p.Q23Q	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	47					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						ATTACGGGCAGATTGCCATCT	0.597																																						dbGAP											0													116.0	110.0	112.0					16																	3075810		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.141G>A	16.37:g.3075810G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q47	ENST00000326266.8	37	c.141	CCDS10491.1	16																																																																																			THOC6	-	superfamily_WD40_repeat_dom	ENSG00000131652		0.597	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC6	HGNC	protein_coding	OTTHUMT00000436981.1	50	0.00	0	G	NM_024339		3075810	3075810	+1	no_errors	ENST00000326266	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	1.000	A
TICAM1	148022	genome.wustl.edu	37	19	4817009	4817009	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:4817009C>G	ENST00000248244.5	-	2	1610	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	461					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCGACAGTCGAAGTTGGAG	0.612																																						dbGAP											0													76.0	63.0	67.0					19																	4817009		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1381G>C	19.37:g.4817009C>G	ENSP00000248244:p.Asp461His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.D461H	ENST00000248244.5	37	c.1381	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604387	0.46423	.	.	ENSG00000127666	ENST00000248244	T	0.02345	4.33	4.78	-3.34	0.04943	.	0.830681	0.10004	N	0.728056	T	0.05823	0.0152	L	0.57536	1.79	0.09310	N	0.999998	P	0.49862	0.929	P	0.51974	0.686	T	0.25467	-1.0131	10	0.45353	T	0.12	-16.2097	7.3342	0.26601	0.0:0.2114:0.1418:0.6468	.	461	Q8IUC6	TCAM1_HUMAN	H	461	ENSP00000248244:D461H	ENSP00000248244:D461H	D	-	1	0	TICAM1	4768009	0.000000	0.05858	0.260000	0.24451	0.486000	0.33341	-0.447000	0.06828	-0.282000	0.09128	0.313000	0.20887	GAC	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam	ENSG00000127666		0.612	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	19	0.00	0	C	NM_014261		4817009	4817009	-1	no_errors	ENST00000248244	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.075	G
TLN2	83660	genome.wustl.edu	37	15	62990048	62990048	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr15:62990048G>A	ENST00000561311.1	+	14	1684	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	TLN2_ENST00000306829.6_Missense_Mutation_p.R485Q			Q9Y4G6	TLN2_HUMAN	talin 2	485					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGATGCACCGAGGCCACATG	0.672																																						dbGAP											0													29.0	27.0	28.0					15																	62990048		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1454G>A	15.37:g.62990048G>A	ENSP00000453508:p.Arg485Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.R485Q	ENST00000561311.1	37	c.1454	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956915	0.53293	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	5.41	4.5	0.54988	.	0.123548	0.51477	D	0.000095	T	0.70046	0.3179	L	0.53249	1.67	0.49915	D	0.999837	D	0.65815	0.995	P	0.53035	0.716	T	0.68164	-0.5481	10	0.28530	T	0.3	-3.742	14.0043	0.64453	0.0723:0.0:0.9277:0.0	.	485	Q9Y4G6	TLN2_HUMAN	Q	485	ENSP00000303476:R485Q	ENSP00000303476:R485Q	R	+	2	0	TLN2	60777340	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	5.604000	0.67626	1.429000	0.47314	0.655000	0.94253	CGA	TLN2	-	NULL	ENSG00000171914		0.672	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	38	0.00	0	G			62990048	62990048	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.986	A
TMEM38A	79041	genome.wustl.edu	37	19	16799102	16799102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:16799102C>T	ENST00000187762.2	+	6	911	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647																																						dbGAP											0													65.0	67.0	66.0					19																	16799102		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.820C>T	19.37:g.16799102C>T	ENSP00000187762:p.Gln274*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P9	Nonsense_Mutation	SNP	pfam_TRIC_channel	p.Q274*	ENST00000187762.2	37	c.820	CCDS12349.1	19	.	.	.	.	.	.	.	.	.	.	c	13.06	2.125344	0.37533	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	1.97	0.26223	.	0.786063	0.11766	N	0.531636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.05	6.8022	0.23758	0.0:0.7234:0.1769:0.0997	.	.	.	.	X	274	.	ENSP00000187762:Q274X	Q	+	1	0	TMEM38A	16660102	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	0.833000	0.27504	0.243000	0.21327	0.561000	0.74099	CAG	TMEM38A	-	NULL	ENSG00000072954		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38A	HGNC	protein_coding	OTTHUMT00000462841.1	87	0.00	0	C	NM_024074		16799102	16799102	+1	no_errors	ENST00000187762	ensembl	human	known	69_37n	nonsense	95	19.49	23	SNP	0.002	T
NDC1	55706	genome.wustl.edu	37	1	54293790	54293790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:54293790G>A	ENST00000371429.3	-	4	935	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	NDC1_ENST00000480952.1_5'UTR|AL049745.1_ENST00000578163.1_RNA|NDC1_ENST00000540001.1_Nonsense_Mutation_p.Q113*|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	113					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ATGAGTTGCTGAGGATGAATG	0.463																																						dbGAP											0													156.0	137.0	143.0					1																	54293790		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.337C>T	1.37:g.54293790G>A	ENSP00000360483:p.Gln113*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Nonsense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.Q113*	ENST00000371429.3	37	c.337	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	G	43	9.887742	0.99288	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001	.	.	.	5.27	5.27	0.74061	.	0.165886	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	18.9375	0.92592	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000353684:Q113X	Q	-	1	0	TMEM48	54066378	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	8.211000	0.89754	2.448000	0.82819	0.454000	0.30748	CAG	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup	ENSG00000058804		0.463	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	140	0.00	0	G	NM_018087		54293790	54293790	-1	no_errors	ENST00000371429	ensembl	human	known	69_37n	nonsense	173	10.36	20	SNP	0.999	A
TNFAIP8L2	79626	genome.wustl.edu	37	1	151131244	151131244	+	Missense_Mutation	SNP	G	G	A	rs587624097	byFrequency	TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:151131244G>A	ENST00000368910.3	+	2	197	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	24					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	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;0.211)			ATGGCGGGTCGCTCTGTGGCT	0.562													G|||	24	0.00479233	0.0	0.0	5008	,	,		19842	0.0		0.0	False		,,,				2504	0.0245					dbGAP											0													72.0	70.0	71.0					1																	151131244		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.71G>A	1.37:g.151131244G>A	ENSP00000357906:p.Arg24His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	pfam_DUF758	p.R24H	ENST00000368910.3	37	c.71	CCDS985.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470598	0.84533	.	.	ENSG00000163154	ENST00000368910	T	0.32515	1.45	5.67	5.67	0.87782	.	0.058586	0.64402	D	0.000002	T	0.30696	0.0773	L	0.55481	1.735	0.41976	D	0.990772	D	0.65815	0.995	P	0.55667	0.781	T	0.16158	-1.0412	10	0.87932	D	0	0.2112	8.7907	0.34848	0.1598:0.0:0.8402:0.0	.	24	Q6P589	TP8L2_HUMAN	H	24	ENSP00000357906:R24H	ENSP00000357906:R24H	R	+	2	0	TNFAIP8L2	149397868	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.434000	0.73408	2.673000	0.90976	0.655000	0.94253	CGC	TNFAIP8L2	-	pfam_DUF758	ENSG00000163154		0.562	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	TNFAIP8L2	HGNC	protein_coding	OTTHUMT00000034069.2	93	0.00	0	G	NM_024575		151131244	151131244	+1	no_errors	ENST00000368910	ensembl	human	known	69_37n	missense	209	13.28	32	SNP	1.000	A
TNPO1	3842	genome.wustl.edu	37	5	72151660	72151660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:72151660C>T	ENST00000337273.5	+	4	691	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000506351.2_Nonsense_Mutation_p.Q81*|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000447967.2_Nonsense_Mutation_p.Q81*|TNPO1_ENST00000523768.1_Intron	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	89	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AGCACACTTTCAGAACTTCCC	0.328																																						dbGAP											0													64.0	63.0	63.0					5																	72151660		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.265C>T	5.37:g.72151660C>T	ENSP00000336712:p.Gln89*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC6|Q92957|Q92975	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q89*	ENST00000337273.5	37	c.265	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359029	0.82353	.	.	ENSG00000083312	ENST00000337273;ENST00000447967;ENST00000506351	.	.	.	4.74	4.74	0.60224	.	0.300340	0.39146	N	0.001448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	0.204	18.1167	0.89558	0.0:1.0:0.0:0.0	.	.	.	.	X	89;81;81	.	ENSP00000336712:Q89X	Q	+	1	0	TNPO1	72187416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	2.353000	0.79882	0.650000	0.86243	CAG	TNPO1	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	ENSG00000083312		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	66	0.00	0	C	NM_002270		72151660	72151660	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	nonsense	38	30.91	17	SNP	1.000	T
TNPO1	3842	genome.wustl.edu	37	5	72161500	72161500	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr5:72161500C>T	ENST00000337273.5	+	6	966	c.540C>T	c.(538-540)ctC>ctT	p.L180L	TNPO1_ENST00000454282.1_Silent_p.L130L|TNPO1_ENST00000506351.2_Silent_p.L172L|TNPO1_ENST00000447967.2_Intron|TNPO1_ENST00000523768.1_Silent_p.L130L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	180					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATCGTCCTCTCAACATCATGA	0.343																																						dbGAP											0													122.0	120.0	120.0					5																	72161500		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.540C>T	5.37:g.72161500C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC6|Q92957|Q92975	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L180	ENST00000337273.5	37	c.540	CCDS43329.1	5																																																																																			TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	154	0.00	0	C	NM_002270		72161500	72161500	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	silent	160	37.98	98	SNP	1.000	T
TRAPPC3	27095	genome.wustl.edu	37	1	36603571	36603571	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:36603571G>A	ENST00000373166.3	-	4	339	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TRAPPC3_ENST00000373163.1_Silent_p.F37F|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Silent_p.F37F|TRAPPC3_ENST00000373159.1_3'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	83					ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AGTACATCTTGAACGCCACCT	0.498																																						dbGAP											0													65.0	65.0	65.0					1																	36603571		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.249C>T	1.37:g.36603571G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDN0|B2RDN2|D3DPS2	Silent	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3	p.F83	ENST00000373166.3	37	c.249	CCDS404.1	1																																																																																			TRAPPC3	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3	ENSG00000054116		0.498	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC3	HGNC	protein_coding	OTTHUMT00000020384.1	76	0.00	0	G	NM_014408		36603571	36603571	-1	no_errors	ENST00000373166	ensembl	human	known	69_37n	silent	49	25.76	17	SNP	1.000	A
TRIP11	9321	genome.wustl.edu	37	14	92465767	92465767	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr14:92465767A>G	ENST00000267622.4	-	13	5082	c.4709T>C	c.(4708-4710)tTa>tCa	p.L1570S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1570					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTGTCACGTAAACGTTGAAC	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													70.0	64.0	66.0					14																	92465767		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4709T>C	14.37:g.92465767A>G	ENSP00000267622:p.Leu1570Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.L1570S	ENST00000267622.4	37	c.4709	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795953	0.50208	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05382	3.45	5.27	5.27	0.74061	.	0.222192	0.39834	N	0.001249	T	0.13243	0.0321	L	0.45051	1.395	0.40983	D	0.984792	D;P	0.53462	0.96;0.95	P;P	0.53722	0.56;0.733	T	0.01993	-1.1233	10	0.45353	T	0.12	.	15.1929	0.73060	1.0:0.0:0.0:0.0	.	1306;1570	F5H1Z0;Q15643	.;TRIPB_HUMAN	S	1570;1306	ENSP00000267622:L1570S	ENSP00000267622:L1570S	L	-	2	0	TRIP11	91535520	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.085000	0.64468	1.996000	0.58369	0.533000	0.62120	TTA	TRIP11	-	NULL	ENSG00000100815		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	135	0.00	0	A			92465767	92465767	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	163	27.56	62	SNP	1.000	G
CFAP70	118491	genome.wustl.edu	37	10	75113458	75113458	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:75113458C>T	ENST00000310715.3	-	3	226	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E36K|TTC18_ENST00000401621.2_Missense_Mutation_p.E36K|TTC18_ENST00000340329.3_Missense_Mutation_p.E36K|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		36						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGATTGAATTCTGCTCGAATA	0.363																																						dbGAP											0													103.0	95.0	98.0					10																	75113458		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000310715.3:c.106G>A	10.37:g.75113458C>T	ENSP00000310829:p.Glu36Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E36K	ENST00000310715.3	37	c.106	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971998	0.92919	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865;ENST00000394862	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.35	5.35	0.76521	.	0.047628	0.85682	D	0.000000	T	0.52677	0.1749	M	0.74258	2.255	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.56226	-0.8014	10	0.87932	D	0	-5.125	16.5576	0.84490	0.0:1.0:0.0:0.0	.	36	Q5T0N1	TTC18_HUMAN	K	36	ENSP00000310829:E36K;ENSP00000384479:E36K;ENSP00000343650:E36K;ENSP00000378334:E36K	ENSP00000310829:E36K	E	-	1	0	TTC18	74783464	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.758000	0.68776	2.478000	0.83669	0.561000	0.74099	GAA	TTC18	-	NULL	ENSG00000156042		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		159	0.00	0	C			75113458	75113458	-1	no_errors	ENST00000310715	ensembl	human	known	69_37n	missense	176	30.71	78	SNP	1.000	T
TTC4	7268	genome.wustl.edu	37	1	55194063	55194063	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:55194063G>C	ENST00000371281.3	+	6	726	c.639G>C	c.(637-639)aaG>aaC	p.K213N	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	213								p.K213N(1)		breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TGAAAGAAAAGAAGGAGAGGA	0.418																																						dbGAP											1	Substitution - Missense(1)	lung(1)											117.0	118.0	118.0					1																	55194063		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.639G>C	1.37:g.55194063G>C	ENSP00000360329:p.Lys213Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.K213N	ENST00000371281.3	37	c.639	CCDS596.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626003	0.66901	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.16073	2.37	4.33	4.33	0.51752	.	.	.	.	.	T	0.35740	0.0942	M	0.73962	2.25	0.50313	D	0.999866	D;D	0.65815	0.995;0.995	P;P	0.59546	0.859;0.859	T	0.03384	-1.1042	9	0.46703	T	0.11	-19.3565	12.652	0.56766	0.0:0.0:1.0:0.0	.	213;224	O95801;Q5TA95	TTC4_HUMAN;.	N	213;224	ENSP00000360329:K213N	ENSP00000360329:K213N	K	+	3	2	TTC4	54966651	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.032000	0.41127	2.705000	0.92388	0.655000	0.94253	AAG	TTC4	-	NULL	ENSG00000243725		0.418	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC4	HGNC	protein_coding	OTTHUMT00000027432.1	90	0.00	0	G	NM_004623		55194063	55194063	+1	no_errors	ENST00000371281	ensembl	human	known	69_37n	missense	108	22.14	31	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179414943	179414943	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179414943C>G	ENST00000591111.1	-	287	86923	c.86699G>C	c.(86698-86700)gGa>gCa	p.G28900A	TTN_ENST00000589042.1_Missense_Mutation_p.G30541A|TTN_ENST00000359218.5_Missense_Mutation_p.G21601A|TTN_ENST00000460472.2_Missense_Mutation_p.G21476A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21668A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27973A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28900	Ig-like 133.				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)			AAGGCTCTCTCCGGACTTAAT	0.373																																						dbGAP											0													113.0	108.0	109.0					2																	179414943		1837	4087	5924	-	-	-	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.86699G>C	2.37:g.179414943C>G	ENSP00000465570:p.Gly28900Ala	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.G27973A	ENST00000591111.1	37	c.83918		2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765825	0.49574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93602	0.7957	H	0.95950	3.745	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	D	0.94740	0.7918	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21476;21601;21668;28900	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	27973;21476;21668;21601;21473	ENSP00000343764:G27973A;ENSP00000434586:G21476A;ENSP00000340554:G21668A;ENSP00000352154:G21601A	ENSP00000340554:G21668A	G	-	2	0	TTN	179123189	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	GGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	233	0.00	0	C	NM_133378		179414943	179414943	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	165	27.95	64	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179417111	179417111	+	Silent	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179417111C>T	ENST00000591111.1	-	285	85817	c.85593G>A	c.(85591-85593)ctG>ctA	p.L28531L	TTN_ENST00000589042.1_Silent_p.L30172L|TTN_ENST00000359218.5_Silent_p.L21232L|TTN_ENST00000460472.2_Silent_p.L21107L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L21299L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L27604L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28531	Ig-like 132.				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)			CACTTTCTTTCAGTGGCAAGC	0.388																																						dbGAP											0													85.0	80.0	82.0					2																	179417111		1885	4099	5984	-	-	-	SO:0001819	synonymous_variant	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.85593G>A	2.37:g.179417111C>T		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	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L27604	ENST00000591111.1	37	c.82812		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	124	0.00	0	C	NM_133378		179417111	179417111	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	105	27.59	40	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179417322	179417322	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179417322C>G	ENST00000591111.1	-	285	85606	c.85382G>C	c.(85381-85383)aGa>aCa	p.R28461T	TTN_ENST00000589042.1_Missense_Mutation_p.R30102T|TTN_ENST00000359218.5_Missense_Mutation_p.R21162T|TTN_ENST00000460472.2_Missense_Mutation_p.R21037T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21229T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27534T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28461	Fibronectin type-III 107. {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)			GGCAAACACTCTGAACTCCAG	0.433																																						dbGAP											0													85.0	78.0	80.0					2																	179417322		1949	4151	6100	-	-	-	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.85382G>C	2.37:g.179417322C>G	ENSP00000465570:p.Arg28461Thr	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.R27534T	ENST00000591111.1	37	c.82601		2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981211	0.53827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.76	3.95	0.45737	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70552	0.3237	M	0.86268	2.805	0.49798	D	0.999826	P;P;P;P	0.45672	0.638;0.638;0.638;0.864	B;B;P;P	0.51079	0.295;0.295;0.447;0.658	T	0.75379	-0.3338	9	0.87932	D	0	.	12.8454	0.57827	0.0:0.8669:0.0:0.1331	.	21037;21162;21229;28461	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27534;21037;21229;21162;21034	ENSP00000343764:R27534T;ENSP00000434586:R21037T;ENSP00000340554:R21229T;ENSP00000352154:R21162T	ENSP00000340554:R21229T	R	-	2	0	TTN	179125568	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.142000	0.42177	0.881000	0.35993	0.655000	0.94253	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	126	0.00	0	C	NM_133378		179417322	179417322	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	97	28.78	40	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179417407	179417407	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179417407C>T	ENST00000591111.1	-	285	85521	c.85297G>A	c.(85297-85299)Gaa>Aaa	p.E28433K	TTN_ENST00000589042.1_Missense_Mutation_p.E30074K|TTN_ENST00000359218.5_Missense_Mutation_p.E21134K|TTN_ENST00000460472.2_Missense_Mutation_p.E21009K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21201K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27506K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28433	Fibronectin type-III 107. {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)			CACGTCTGTTCACCTTTACCT	0.448																																						dbGAP											0													121.0	110.0	113.0					2																	179417407		2040	4169	6209	-	-	-	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.85297G>A	2.37:g.179417407C>T	ENSP00000465570:p.Glu28433Lys	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.E27506K	ENST00000591111.1	37	c.82516		2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003293	0.54254	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49115	0.1538	N	0.17872	0.535	0.41148	D	0.986004	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.51453	0.67;0.67;0.67;0.67	T	0.52895	-0.8514	9	0.87932	D	0	.	13.5255	0.61593	0.0:0.9287:0.0:0.0713	.	21009;21134;21201;28433	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27506;21009;21201;21134;21006	ENSP00000343764:E27506K;ENSP00000434586:E21009K;ENSP00000340554:E21201K;ENSP00000352154:E21134K	ENSP00000340554:E21201K	E	-	1	0	TTN	179125653	0.999000	0.42202	0.970000	0.41538	0.547000	0.35210	4.104000	0.57790	2.882000	0.98803	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	134	0.00	0	C	NM_133378		179417407	179417407	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	95	30.15	41	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179419748	179419748	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179419748C>T	ENST00000591111.1	-	281	83739	c.83515G>A	c.(83515-83517)Gaa>Aaa	p.E27839K	TTN_ENST00000589042.1_Missense_Mutation_p.E29480K|TTN_ENST00000359218.5_Missense_Mutation_p.E20540K|TTN_ENST00000460472.2_Missense_Mutation_p.E20415K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20607K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26912K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27839	Ig-like 130.				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)			GTTTGTAATTCTTTATCATCT	0.418																																						dbGAP											0													73.0	68.0	69.0					2																	179419748		1883	4120	6003	-	-	-	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.83515G>A	2.37:g.179419748C>T	ENSP00000465570:p.Glu27839Lys	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.E26912K	ENST00000591111.1	37	c.80734		2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759050	0.89843	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77824	0.4188	L	0.41124	1.26	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.78580	-0.2149	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20415;20540;20607;27839	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	26912;20415;20607;20540;20412	ENSP00000343764:E26912K;ENSP00000434586:E20415K;ENSP00000340554:E20607K;ENSP00000352154:E20540K	ENSP00000340554:E20607K	E	-	1	0	TTN	179127994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	128	0.00	0	C	NM_133378		179419748	179419748	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	84	31.15	38	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179605967	179605967	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:179605967A>G	ENST00000591111.1	-	46	11266	c.11042T>C	c.(11041-11043)gTc>gCc	p.V3681A	TTN_ENST00000589042.1_Missense_Mutation_p.V3998A|TTN_ENST00000359218.5_Missense_Mutation_p.V3760A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3635A|TTN_ENST00000342175.6_Missense_Mutation_p.V3827A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13983	Ig-like 22.				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)			AGGGTCATTGACAATGAAAGT	0.453																																						dbGAP											0													73.0	74.0	74.0					2																	179605967		1914	4123	6037	-	-	-	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.11042T>C	2.37:g.179605967A>G	ENSP00000465570:p.Val3681Ala	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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.V3827A	ENST00000591111.1	37	c.11480		2	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972205	0.34754	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69175	-0.38;-0.38;-0.38	5.87	5.87	0.94306	.	.	.	.	.	T	0.77336	0.4115	M	0.89601	3.045	0.28780	N	0.899863	P;P;P	0.38280	0.625;0.625;0.625	B;B;B	0.40741	0.339;0.339;0.339	T	0.77576	-0.2536	9	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	3635;3760;3827	D3DPF9;E7EQE6;E7ET18	.;.;.	A	3635;3827;3760;3635	ENSP00000434586:V3635A;ENSP00000340554:V3827A;ENSP00000352154:V3760A	ENSP00000340554:V3827A	V	-	2	0	TTN	179314212	1.000000	0.71417	0.997000	0.53966	0.429000	0.31625	7.006000	0.76329	2.371000	0.80710	0.533000	0.62120	GTC	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	372	0.00	0	A	NM_133378		179605967	179605967	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	282	20.56	73	SNP	0.999	G
TUBG2	27175	genome.wustl.edu	37	17	40811929	40811929	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr17:40811929G>A	ENST00000251412.7	+	2	326	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	43					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ATTCGCCACCGAGGGCACTGA	0.662																																						dbGAP											0													43.0	56.0	52.0					17																	40811929		2199	4289	6488	-	-	-	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.127G>A	17.37:g.40811929G>A	ENSP00000251412:p.Glu43Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E43K	ENST00000251412.7	37	c.127	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892093	0.52014	.	.	ENSG00000037042	ENST00000251412	T	0.69685	-0.42	5.14	4.17	0.49024	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.52266	1.64	0.58432	D	0.999999	P	0.38863	0.65	B	0.29524	0.103	T	0.61584	-0.7033	10	0.72032	D	0.01	-32.1771	11.8874	0.52610	0.0826:0.0:0.9174:0.0	.	43	Q9NRH3	TBG2_HUMAN	K	43	ENSP00000251412:E43K	ENSP00000251412:E43K	E	+	1	0	TUBG2	38065455	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.730000	0.84881	1.308000	0.44962	-0.136000	0.14681	GAG	TUBG2	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Gamma_tubulin	ENSG00000037042		0.662	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	44	0.00	0	G	NM_016437		40811929	40811929	+1	no_errors	ENST00000251412	ensembl	human	known	69_37n	missense	73	15.12	13	SNP	1.000	A
UGGT1	56886	genome.wustl.edu	37	2	128944345	128944345	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:128944345C>G	ENST00000259253.6	+	39	4495	c.4448C>G	c.(4447-4449)tCt>tGt	p.S1483C	UGGT1_ENST00000375990.3_Missense_Mutation_p.S1459C	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1483	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGACGCCTCTAAGAAAAGG	0.423																																						dbGAP											0													242.0	198.0	213.0					2																	128944345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4448C>G	2.37:g.128944345C>G	ENSP00000259253:p.Ser1483Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.S1483C	ENST00000259253.6	37	c.4448	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.089025	0.94100	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.23348	1.91;1.91	6.17	6.17	0.99709	.	0.111710	0.64402	D	0.000006	T	0.65037	0.2653	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.73222	-0.4051	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1483	Q9NYU2	UGGG1_HUMAN	C	1459;1483	ENSP00000365158:S1459C;ENSP00000259253:S1483C	.	S	+	2	0	UGGT1	128660815	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.385000	0.79763	2.941000	0.99782	0.655000	0.94253	TCT	UGGT1	-	NULL	ENSG00000136731		0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	218	0.00	0	C	NM_020120		128944345	128944345	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	258	17.78	56	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	215932030	215932030	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:215932030G>C	ENST00000307340.3	-	58	11682	c.11296C>G	c.(11296-11298)Caa>Gaa	p.Q3766E	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3766E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3766	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAGGTGTTTGAACAATGTAA	0.358										HNSCC(13;0.011)																												dbGAP											0													172.0	170.0	171.0					1																	215932030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11296C>G	1.37:g.215932030G>C	ENSP00000305941:p.Gln3766Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q3766E	ENST00000307340.3	37	c.11296	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697584	0.48307	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.36	5.36	0.76844	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000814	T	0.53158	0.1779	L	0.53729	1.69	0.53688	D	0.999973	P	0.52316	0.952	P	0.44518	0.452	T	0.50021	-0.8876	10	0.22706	T	0.39	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	3766	O75445	USH2A_HUMAN	E	3766	ENSP00000305941:Q3766E;ENSP00000355910:Q3766E	ENSP00000305941:Q3766E	Q	-	1	0	USH2A	213998653	1.000000	0.71417	0.096000	0.21009	0.121000	0.20230	5.211000	0.65219	2.513000	0.84729	0.586000	0.80456	CAA	USH2A	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	312	0.00	0	G	NM_007123		215932030	215932030	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	365	22.67	107	SNP	0.977	C
USH2A	7399	genome.wustl.edu	37	1	215933100	215933100	+	Silent	SNP	G	G	C	rs144718440		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:215933100G>C	ENST00000307340.3	-	57	11519	c.11133C>G	c.(11131-11133)ctC>ctG	p.L3711L	USH2A_ENST00000366943.2_Silent_p.L3711L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3711	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGAGAAACGAGGCCATTGG	0.438										HNSCC(13;0.011)																												dbGAP											0													109.0	104.0	105.0					1																	215933100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11133C>G	1.37:g.215933100G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3711	ENST00000307340.3	37	c.11133	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	261	0.00	0	G	NM_007123		215933100	215933100	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	364	22.01	103	SNP	0.996	C
VWA5A	4013	genome.wustl.edu	37	11	123994096	123994096	+	Silent	SNP	G	G	A	rs35899318		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr11:123994096G>A	ENST00000456829.2	+	9	1205	c.954G>A	c.(952-954)aaG>aaA	p.K318K	VWA5A_ENST00000392744.4_Silent_p.K334K|VWA5A_ENST00000361352.5_Silent_p.K318K|VWA5A_ENST00000360334.4_Silent_p.K318K|VWA5A_ENST00000392748.1_Silent_p.K318K|VWA5A_ENST00000449321.1_Silent_p.K318K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	318	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGCTGCTGAAGAGTTTACCTA	0.433																																						dbGAP											0													131.0	129.0	130.0					11																	123994096		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.954G>A	11.37:g.123994096G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.K318	ENST00000456829.2	37	c.954	CCDS8444.1	11																																																																																			VWA5A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110002		0.433	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	214	0.00	0	G	NM_014622		123994096	123994096	+1	no_errors	ENST00000392748	ensembl	human	known	69_37n	silent	162	28.95	66	SNP	1.000	A
WDFY3	23001	genome.wustl.edu	37	4	85687113	85687114	+	Frame_Shift_Ins	INS	-	-	T	rs577140268		TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr4:85687113_85687114insT	ENST00000295888.4	-	32	5444_5445	c.5037_5038insA	c.(5035-5040)ttacatfs	p.H1680fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.H1680fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1680					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTGGTGGAATGTAAGTGTTCCT	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5038dupA	4.37:g.85687114_85687114dupT	ENSP00000295888:p.His1680fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1679fs	ENST00000295888.4	37	c.5038_5037	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.391	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	358	0.00	0	-	NM_014991		85687113	85687114	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	frame_shift_ins	229	39.90	152	INS	1.000:1.000	T
WDR33	55339	genome.wustl.edu	37	2	128463946	128463946	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:128463946G>C	ENST00000322313.4	-	22	4120	c.3962C>G	c.(3961-3963)tCt>tGt	p.S1321C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1321					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGGCGGGCCAGAGTTCATGTT	0.597																																						dbGAP											0													99.0	107.0	104.0					2																	128463946		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3962C>G	2.37:g.128463946G>C	ENSP00000325377:p.Ser1321Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1321C	ENST00000322313.4	37	c.3962	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629296	0.67015	.	.	ENSG00000136709	ENST00000322313	D	0.91577	-2.87	5.47	5.47	0.80525	.	0.174992	0.41294	D	0.000905	D	0.88672	0.6500	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	D	0.91311	0.5074	10	0.87932	D	0	-14.2003	19.6923	0.96007	0.0:0.0:1.0:0.0	.	1321	Q9C0J8	WDR33_HUMAN	C	1321	ENSP00000325377:S1321C	ENSP00000325377:S1321C	S	-	2	0	WDR33	128180416	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.153000	0.77428	2.712000	0.92718	0.650000	0.86243	TCT	WDR33	-	NULL	ENSG00000136709		0.597	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	189	0.00	0	G	NM_018383		128463946	128463946	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	71	32.38	34	SNP	1.000	C
XKRX	402415	genome.wustl.edu	37	X	100183269	100183269	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chrX:100183269C>G	ENST00000372956.2	-	1	629	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	XKRX_ENST00000328526.5_Missense_Mutation_p.E22Q|XKRX_ENST00000468904.1_Missense_Mutation_p.E9Q			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TTTGGCTCCTCAGGAATTTCA	0.478																																						dbGAP											0													175.0	173.0	174.0					X																	100183269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.25G>C	X.37:g.100183269C>G	ENSP00000362047:p.Glu9Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.E22Q	ENST00000372956.2	37	c.64	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166218	0.38217	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T	0.65732	-0.17;-0.17	4.65	3.76	0.43208	.	0.240075	0.40818	N	0.001002	T	0.36441	0.0967	N	0.08118	0	0.27501	N	0.95198	B	0.23058	0.079	B	0.17722	0.019	T	0.14952	-1.0454	10	0.40728	T	0.16	-5.2715	6.6075	0.22734	0.0:0.7818:0.0:0.2182	.	9	Q6PP77	XKR2_HUMAN	Q	22;9;9	ENSP00000327570:E22Q;ENSP00000362047:E9Q	ENSP00000327570:E22Q	E	-	1	0	XKRX	100069925	0.884000	0.30299	0.985000	0.45067	0.994000	0.84299	1.592000	0.36676	2.158000	0.67659	0.429000	0.28392	GAG	XKRX	-	NULL	ENSG00000182489		0.478	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	628	0.00	0	C	NM_212559		100183269	100183269	-1	no_errors	ENST00000328526	ensembl	human	known	69_37n	missense	393	32.88	193	SNP	0.739	G
ZCWPW1	55063	genome.wustl.edu	37	7	100016761	100016761	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:100016761G>C	ENST00000398027.2	-	5	581	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.L112V|ZCWPW1_ENST00000490721.1_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	112							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACTTCTGCAGAACAATCTGG	0.433																																						dbGAP											0													167.0	156.0	160.0					7																	100016761		1888	4103	5991	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.334C>G	7.37:g.100016761G>C	ENSP00000381109:p.Leu112Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.L112V	ENST00000398027.2	37	c.334	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700022	0.68501	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.60672	0.18;0.17	5.59	4.71	0.59529	.	0.000000	0.37955	N	0.001876	T	0.68742	0.3034	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.991;0.991	T	0.67948	-0.5538	9	.	.	.	-9.9693	10.6342	0.45554	0.0889:0.0:0.9111:0.0	.	112;112;112;112	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	V	112	ENSP00000381109:L112V;ENSP00000354210:L112V	.	L	-	1	2	ZCWPW1	99854697	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.704000	0.37857	1.492000	0.48499	0.563000	0.77884	CTG	ZCWPW1	-	NULL	ENSG00000078487		0.433	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	113	0.00	0	G	NM_017984		100016761	100016761	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	221	21.63	61	SNP	1.000	C
ZDHHC6	64429	genome.wustl.edu	37	10	114205164	114205164	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr10:114205164C>G	ENST00000369405.3	-	2	454	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q	VTI1A_ENST00000393077.2_5'Flank|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.E11Q|VTI1A_ENST00000432306.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	11					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TGTAGATTTTCAAACTTGATA	0.388																																						dbGAP											0													76.0	76.0	76.0					10																	114205164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.31G>C	10.37:g.114205164C>G	ENSP00000358413:p.Glu11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.E11Q	ENST00000369405.3	37	c.31	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859513	0.32884	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.65916	0.56;-0.18	5.93	5.93	0.95920	.	0.054997	0.64402	D	0.000002	T	0.60521	0.2275	L	0.51422	1.61	0.50171	D	0.999851	B;B	0.30709	0.291;0.192	B;B	0.29598	0.104;0.048	T	0.59952	-0.7357	10	0.59425	D	0.04	-34.2088	19.0975	0.93258	0.0:1.0:0.0:0.0	.	11;11	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	Q	11	ENSP00000358413:E11Q;ENSP00000358412:E11Q	ENSP00000358412:E11Q	E	-	1	0	ZDHHC6	114195154	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	4.368000	0.59505	2.814000	0.96858	0.655000	0.94253	GAA	ZDHHC6	-	NULL	ENSG00000023041		0.388	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1	91	0.00	0	C	NM_022494		114205164	114205164	-1	no_errors	ENST00000369405	ensembl	human	known	69_37n	missense	81	28.95	33	SNP	1.000	G
ZEB2	9839	genome.wustl.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617																																					Melanoma(33;1235 1264 5755 16332)	dbGAP											1	Substitution - Missense(1)	cervix(1)											48.0	49.0	48.0					2																	145147383		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3280G>A	2.37:g.145147383C>T	ENSP00000454157:p.Glu1094Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1094K	ENST00000558170.2	37	c.3280	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783312	0.96937	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14144	2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;B;B	0.83275	0.996;0.444;0.444	T	0.08743	-1.0707	10	0.87932	D	0	-12.297	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1070;1093;1094	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1070;1094;1094	ENSP00000443792:E1070K;ENSP00000302501:E1094K;ENSP00000386854:E1094K	ENSP00000302501:E1094K	E	-	1	0	ZEB2	144863853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL	ENSG00000169554		0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	105	0.00	0	C	NM_014795		145147383	145147383	-1	no_errors	ENST00000303660	ensembl	human	known	69_37n	missense	150	10.12	17	SNP	1.000	T
ZFHX3	463	genome.wustl.edu	37	16	72923839	72923839	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr16:72923839C>G	ENST00000268489.5	-	4	3911	c.3239G>C	c.(3238-3240)gGt>gCt	p.G1080A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G166A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1080					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCTTCTACACCACTCTCATG	0.547																																						dbGAP											0													82.0	55.0	64.0					16																	72923839		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3239G>C	16.37:g.72923839C>G	ENSP00000268489:p.Gly1080Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G1080A	ENST00000268489.5	37	c.3239	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070126	0.55539	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.37058	1.22;1.22	5.87	5.87	0.94306	.	0.000000	0.50627	D	0.000101	T	0.14570	0.0352	N	0.00841	-1.15	0.50467	D	0.99987	B	0.17465	0.022	B	0.24848	0.056	T	0.31943	-0.9925	10	0.02654	T	1	.	20.1947	0.98239	0.0:1.0:0.0:0.0	.	1080	Q15911	ZFHX3_HUMAN	A	1080;166	ENSP00000268489:G1080A;ENSP00000438926:G166A	ENSP00000268489:G1080A	G	-	2	0	ZFHX3	71481340	1.000000	0.71417	0.988000	0.46212	0.685000	0.39939	6.308000	0.72820	2.780000	0.95670	0.561000	0.74099	GGT	ZFHX3	-	NULL	ENSG00000140836		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	99	0.00	0	C	NM_006885		72923839	72923839	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	70	36.94	41	SNP	1.000	G
ZBTB18	10472	genome.wustl.edu	37	1	244217588	244217588	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:244217588G>C	ENST00000358704.4	+	2	661	c.512G>C	c.(511-513)gGa>gCa	p.G171A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	162				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAAGATGAAGGAGAAGATGAA	0.517																																						dbGAP											0													60.0	61.0	61.0					1																	244217588		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.512G>C	1.37:g.244217588G>C	ENSP00000351539:p.Gly171Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G171A	ENST00000358704.4	37	c.512	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081790	0.36758	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11495	2.77	5.28	5.28	0.74379	.	0.051315	0.85682	D	0.000000	T	0.07234	0.0183	N	0.19112	0.55	0.48571	D	0.999672	B;B;B	0.28636	0.06;0.139;0.218	B;B;B	0.20767	0.014;0.014;0.031	T	0.39820	-0.9595	10	0.20519	T	0.43	.	13.8324	0.63389	0.0:0.0:0.847:0.153	.	171;162;171	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	A	171	ENSP00000351539:G171A	ENSP00000351539:G171A	G	+	2	0	ZNF238	242284211	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	4.842000	0.62831	2.475000	0.83589	0.650000	0.86243	GGA	ZNF238	-	NULL	ENSG00000179456		0.517	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	120	0.00	0	G	NM_205768		244217588	244217588	+1	no_errors	ENST00000358704	ensembl	human	known	69_37n	missense	109	22.14	31	SNP	0.999	C
ZNF124	7678	genome.wustl.edu	37	1	247320336	247320336	+	Silent	SNP	A	A	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr1:247320336A>G	ENST00000543802.2	-	4	677	c.588T>C	c.(586-588)caT>caC	p.H196H	ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Silent_p.H134H|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GAGTTCTTTCATGGTCACGAA	0.423																																						dbGAP											0													89.0	85.0	86.0					1																	247320336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.588T>C	1.37:g.247320336A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	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.H196	ENST00000543802.2	37	c.588		1																																																																																			ZNF124	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196418		0.423	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	ZNF124	HGNC	protein_coding	OTTHUMT00000447393.1	263	0.38	1	A	NM_003431		247320336	247320336	-1	no_errors	ENST00000543802	ensembl	human	known	69_37n	silent	326	13.49	51	SNP	0.994	G
ZNF3	7551	genome.wustl.edu	37	7	99669144	99669144	+	Silent	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr7:99669144G>A	ENST00000424697.1	-	6	1269	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.F321F|ZNF3_ENST00000299667.4_Silent_p.F321F	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	321					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGCTCCTGCTGAAGGCCTTCC	0.512																																						dbGAP											0													54.0	58.0	57.0					7																	99669144		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.963C>T	7.37:g.99669144G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	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.F321	ENST00000424697.1	37	c.963	CCDS43619.1	7																																																																																			ZNF3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000166526		0.512	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	141	0.00	0	G	NM_017715		99669144	99669144	-1	no_errors	ENST00000299667	ensembl	human	known	69_37n	silent	147	18.33	33	SNP	1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37880530	37880530	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:37880530G>A	ENST00000436120.2	+	5	1686	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	527					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)			GAAACCCTATGAATGTAACAA	0.393																																						dbGAP											0													84.0	93.0	90.0					19																	37880530		2198	4297	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.1579G>A	19.37:g.37880530G>A	ENSP00000390179:p.Glu527Lys	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.E527K	ENST00000436120.2	37	c.1579	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812709	0.32053	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224672	0.22825	N	0.055164	T	0.15435	0.0372	N	0.01640	-0.785	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.04165	-1.0972	9	0.14252	T	0.57	.	3.3533	0.07160	0.218:0.0:0.5767:0.2053	.	527;495	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	K	527;495;475	.	ENSP00000325231:E495K	E	+	1	0	ZNF527	42572370	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.245000	0.08890	0.838000	0.34948	0.655000	0.94253	GAA	ZNF527	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189164		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	294	0.00	0	G	NM_032453		37880530	37880530	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	362	19.15	86	SNP	0.998	A
ZNF781	163115	genome.wustl.edu	37	19	38160656	38160656	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:38160656A>C	ENST00000590008.1	-	5	1246	c.394T>G	c.(394-396)Tta>Gta	p.L132V	ZNF781_ENST00000358582.4_Missense_Mutation_p.L132V|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	132					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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTCTATTAAATCAGAAACA	0.383																																						dbGAP											0													130.0	130.0	130.0					19																	38160656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.394T>G	19.37:g.38160656A>C	ENSP00000466370:p.Leu132Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L132V	ENST00000590008.1	37	c.394	CCDS12507.1	19	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301103	0.23650	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.11604	2.76	1.85	0.778	0.18543	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	M	0.85777	2.775	0.09310	N	1	P	0.35348	0.496	B	0.28916	0.096	T	0.18681	-1.0329	9	0.72032	D	0.01	.	5.9869	0.19440	0.8347:0.0:0.1653:0.0	.	132	Q8N8C0	ZN781_HUMAN	V	132	ENSP00000351391:L132V	ENSP00000351391:L132V	L	-	1	2	ZNF781	42852496	0.264000	0.24093	0.078000	0.20375	0.154000	0.21943	0.580000	0.23803	0.827000	0.34685	0.338000	0.21704	TTA	ZNF781	-	NULL	ENSG00000196381		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	219	0.00	0	A	NM_152605		38160656	38160656	-1	no_errors	ENST00000358582	ensembl	human	known	69_37n	missense	413	20.42	106	SNP	0.008	C
ZNF573	126231	genome.wustl.edu	37	19	38230531	38230531	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:38230531G>C	ENST00000590414.2	-	4	881	c.860C>G	c.(859-861)tCa>tGa	p.S287*	ZNF573_ENST00000392138.1_Nonsense_Mutation_p.S200*|ZNF573_ENST00000536220.1_Nonsense_Mutation_p.S199*|ZNF573_ENST00000339503.4_Nonsense_Mutation_p.S229*|ZNF573_ENST00000357309.3_Nonsense_Mutation_p.S199*			Q86YE8	ZN573_HUMAN	zinc finger protein 573	287					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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AACAAGATTTGAGCGCCTACT	0.403																																						dbGAP											0													98.0	96.0	97.0					19																	38230531		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.860C>G	19.37:g.38230531G>C	ENSP00000465020:p.Ser287*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	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.S287*	ENST00000590414.2	37	c.860	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.171541	0.94807	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.3896	0.49806	0.0:0.0:1.0:0.0	.	.	.	.	X	200;199;199;229;199	.	ENSP00000340171:S229X	S	-	2	0	ZNF573	42922371	0.004000	0.15560	0.873000	0.34254	0.934000	0.57294	1.292000	0.33342	1.131000	0.42111	0.585000	0.79938	TCA	ZNF573	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189144		0.403	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	342	0.00	0	G	NM_152360		38230531	38230531	-1	no_errors	ENST00000590414	ensembl	human	known	69_37n	nonsense	823	10.43	96	SNP	0.075	C
ZNF808	388558	genome.wustl.edu	37	19	53057682	53057682	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:53057682C>G	ENST00000359798.4	+	5	1693	c.1513C>G	c.(1513-1515)Cat>Gat	p.H505D		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	505					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATAGTGGTGA	0.448																																						dbGAP											0													110.0	118.0	115.0					19																	53057682		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1513C>G	19.37:g.53057682C>G	ENSP00000352846:p.His505Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H436D	ENST00000359798.4	37	c.1306	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	15.45	2.836423	0.50951	.	.	ENSG00000198482	ENST00000359798	T	0.67698	-0.28	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86356	0.5913	H	0.97732	4.065	0.28811	N	0.898247	D	0.89917	1.0	D	0.97110	1.0	T	0.78198	-0.2297	9	0.87932	D	0	.	9.9166	0.41439	0.0:1.0:0.0:0.0	.	505	Q8N4W9	ZN808_HUMAN	D	505	ENSP00000352846:H505D	ENSP00000352846:H505D	H	+	1	0	ZNF808	57749494	.	.	0.003000	0.11579	0.008000	0.06430	.	.	0.798000	0.33994	0.195000	0.17529	CAT	ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.448	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	542	0.00	0	C	NM_001039886		53057682	53057682	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	556	11.18	70	SNP	0.996	G
ZNF547	284306	genome.wustl.edu	37	19	57889020	57889020	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr19:57889020C>G	ENST00000282282.3	+	4	826	c.676C>G	c.(676-678)Cac>Gac	p.H226D	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGTAAGTCTCACCTTGTTCG	0.433																																						dbGAP											0													103.0	94.0	97.0					19																	57889020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.676C>G	19.37:g.57889020C>G	ENSP00000282282:p.His226Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z9|Q96NC4	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.H226D	ENST00000282282.3	37	c.676	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037534	0.07497	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.13089	2.62	1.87	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.04355	-0.22	0.09310	N	1	B;B;B	0.21225	0.002;0.053;0.0	B;B;B	0.26094	0.002;0.066;0.003	T	0.41395	-0.9511	9	0.11182	T	0.66	.	1.6135	0.02698	0.4405:0.1745:0.2666:0.1184	.	226;226;226	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	D	226	ENSP00000282282:H226D	ENSP00000282282:H226D	H	+	1	0	ZNF547	62580832	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-7.883000	0.00028	-1.192000	0.02691	0.491000	0.48974	CAC	ZNF547	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152433		0.433	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	HGNC	protein_coding	OTTHUMT00000465787.1	447	0.00	0	C	NM_173631		57889020	57889020	+1	no_errors	ENST00000282282	ensembl	human	known	69_37n	missense	412	31.45	189	SNP	0.000	G
ZNF831	128611	genome.wustl.edu	37	20	57769623	57769623	+	Silent	SNP	C	C	A			TCGA-A8-A09G-01A-21W-A019-09	TCGA-A8-A09G-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3bd68e94-d902-4079-8fdb-16edcc90de1c	f53ea676-2475-408e-9b54-29324a255a2e	g.chr20:57769623C>A	ENST00000371030.2	+	1	3549	c.3549C>A	c.(3547-3549)ctC>ctA	p.L1183L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1183							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCGCGGCTCACGTGGTGTT	0.642																																						dbGAP											0													39.0	45.0	43.0					20																	57769623		2071	4184	6255	-	-	-	SO:0001819	synonymous_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3549C>A	20.37:g.57769623C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1183	ENST00000371030.2	37	c.3549	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	39	0.00	0	C	NM_178457		57769623	57769623	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	silent	14	33.33	7	SNP	0.891	A
