#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
ABCA10	10349	genome.wustl.edu	37	17	67148549	67148549	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr17:67148549C>T	ENST00000269081.4	-	36	5119	c.4210G>A	c.(4210-4212)Gag>Aag	p.E1404K	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1404	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACACAGCCTCAGCCTCTGAC	0.493																																						dbGAP											0													151.0	116.0	128.0					17																	67148549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4210G>A	17.37:g.67148549C>T	ENSP00000269081:p.Glu1404Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1404K	ENST00000269081.4	37	c.4210	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785636	0.70337	.	.	ENSG00000154263	ENST00000269081	D	0.99515	-6.06	3.28	1.13	0.20643	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.33938	U	0.004415	D	0.99363	0.9776	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.99816	1.1044	10	0.87932	D	0	.	7.3681	0.26785	0.1656:0.7417:0.0:0.0927	.	396;1404	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	K	1404	ENSP00000269081:E1404K	ENSP00000269081:E1404K	E	-	1	0	ABCA10	64660144	0.997000	0.39634	0.721000	0.30653	0.629000	0.37895	3.871000	0.56077	0.180000	0.19960	-0.244000	0.11960	GAG	ABCA10	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.493	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	224	0.00	0	C	NM_080282		67148549	67148549	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	121	15.97	23	SNP	0.983	T
ABCB1	5243	genome.wustl.edu	37	7	87175254	87175254	+	Silent	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:87175254T>C	ENST00000265724.3	-	16	2229	c.1812A>G	c.(1810-1812)ggA>ggG	p.G604G	ABCB1_ENST00000543898.1_Silent_p.G540G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	604	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CCACAATGACTCCATCATCGA	0.408																																						dbGAP											0													157.0	131.0	140.0					7																	87175254		2203	4300	6503	-	-	-	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.1812A>G	7.37:g.87175254T>C		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.G604	ENST00000265724.3	37	c.1812	CCDS5608.1	7																																																																																			ABCB1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	145	0.68	1	T	NM_000927		87175254	87175254	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	93	15.45	17	SNP	0.990	C
MYRF	745	genome.wustl.edu	37	11	61547364	61547364	+	Silent	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr11:61547364G>A	ENST00000278836.5	+	17	2394	c.2298G>A	c.(2296-2298)caG>caA	p.Q766Q	MYRF_ENST00000327797.1_Silent_p.Q412Q|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.Q757Q|MYRF_ENST00000389602.4_Silent_p.Q157Q	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	766					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTTCCTGCAGGGAACCATCA	0.602																																						dbGAP											0													87.0	81.0	83.0					11																	61547364		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2298G>A	11.37:g.61547364G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.Q766	ENST00000278836.5	37	c.2298	CCDS44622.1	11																																																																																			C11orf9	-	NULL	ENSG00000124920		0.602	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	60	0.00	0	G	NM_013279		61547364	61547364	+1	no_errors	ENST00000278836	ensembl	human	known	69_37n	silent	46	19.30	11	SNP	1.000	A
CDH6	1004	genome.wustl.edu	37	5	31317975	31317975	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr5:31317975C>T	ENST00000265071.2	+	11	2091	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M	CDH6_ENST00000514738.1_Missense_Mutation_p.T554M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	609					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCACCCCACGGGACTGAGC	0.597																																						dbGAP											0													66.0	64.0	64.0					5																	31317975		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1826C>T	5.37:g.31317975C>T	ENSP00000265071:p.Thr609Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T609M	ENST00000265071.2	37	c.1826	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300231	0.40694	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58358	0.5;0.34	5.29	5.29	0.74685	Cadherin (1);	0.152106	0.64402	D	0.000018	T	0.56077	0.1961	N	0.16368	0.405	0.49687	D	0.999812	D;D	0.67145	0.994;0.996	P;P	0.61275	0.715;0.886	T	0.56360	-0.7992	10	0.35671	T	0.21	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	609;609	P55285;P55285-2	CADH6_HUMAN;.	M	554;609	ENSP00000424843:T554M;ENSP00000265071:T609M	ENSP00000265071:T609M	T	+	2	0	CDH6	31353732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.944000	0.56629	2.625000	0.88918	0.655000	0.94253	ACG	CDH6	-	pfscan_Cadherin	ENSG00000113361		0.597	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	35	0.00	0	C	NM_004932		31317975	31317975	+1	no_errors	ENST00000265071	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	T
CNOT2	4848	genome.wustl.edu	37	12	70724100	70724100	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr12:70724100G>T	ENST00000418359.3	+	7	871	c.420G>T	c.(418-420)atG>atT	p.M140I	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.M140I	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	140					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGAATATGATGAACCACTCCC	0.403																																						dbGAP											0													104.0	99.0	100.0					12																	70724100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.420G>T	12.37:g.70724100G>T	ENSP00000412091:p.Met140Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.M140I	ENST00000418359.3	37	c.420	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618618	0.28801	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.43688	0.94;0.94;0.95;0.94	5.55	5.55	0.83447	.	0.037206	0.85682	D	0.000000	T	0.33789	0.0875	L	0.27053	0.805	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07328	-1.0778	10	0.21014	T	0.42	-5.309	19.8769	0.96880	0.0:0.0:1.0:0.0	.	140	Q9NZN8	CNOT2_HUMAN	I	140;140;140;120;131;140;140;55;140	ENSP00000229195:M140I;ENSP00000412091:M140I;ENSP00000449659:M131I;ENSP00000449260:M140I	ENSP00000229195:M140I	M	+	3	0	CNOT2	69010367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.793000	0.62474	2.767000	0.95098	0.557000	0.71058	ATG	CNOT2	-	NULL	ENSG00000111596		0.403	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	144	0.00	0	G			70724100	70724100	+1	no_errors	ENST00000229195	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	1.000	T
CPED1	79974	genome.wustl.edu	37	7	120782056	120782056	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:120782056T>G	ENST00000310396.5	+	16	2383	c.1916T>G	c.(1915-1917)aTg>aGg	p.M639R	CPED1_ENST00000450913.2_Missense_Mutation_p.M639R|CPED1_ENST00000423795.1_Missense_Mutation_p.M419R	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	639						endoplasmic reticulum (GO:0005783)											GGCTTAGGAATGAACAAAATC	0.433																																						dbGAP											0													108.0	107.0	108.0					7																	120782056		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1916T>G	7.37:g.120782056T>G	ENSP00000309772:p.Met639Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.M639R	ENST00000310396.5	37	c.1916	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036367	0.35893	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.22336	2.29;1.96;1.96	5.77	3.32	0.38043	.	0.637315	0.16968	N	0.192211	T	0.22859	0.0552	L	0.57536	1.79	0.80722	D	1	P;P;P	0.40834	0.73;0.73;0.551	B;B;B	0.42163	0.295;0.202;0.378	T	0.01630	-1.1308	10	0.26408	T	0.33	.	9.4856	0.38928	0.0:0.1531:0.0:0.8469	.	419;639;639	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	R	639;639;419	ENSP00000309772:M639R;ENSP00000406122:M639R;ENSP00000415573:M419R	ENSP00000309772:M639R	M	+	2	0	C7orf58	120569292	0.991000	0.36638	0.998000	0.56505	0.993000	0.82548	1.935000	0.40173	0.496000	0.27904	0.533000	0.62120	ATG	CPED1	-	NULL	ENSG00000106034		0.433	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	122	0.00	0	T	NM_024913		120782056	120782056	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	missense	73	19.78	18	SNP	1.000	G
CPA5	93979	genome.wustl.edu	37	7	130007391	130007391	+	Silent	SNP	C	C	T	rs202176514		TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:130007391C>T	ENST00000485477.1	+	10	2146	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	CPA5_ENST00000474905.1_Silent_p.P339P|CPA5_ENST00000355388.3_Silent_p.P339P|CPA5_ENST00000466363.2_Silent_p.P339P|CPA5_ENST00000461828.1_Silent_p.P339P|CPA5_ENST00000431780.2_Silent_p.P339P|CPA5_ENST00000393213.3_Silent_p.P339P			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	339						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGCTGGAGCCCGTTTCAAATC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18470	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													113.0	110.0	111.0					7																	130007391		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1017C>T	7.37:g.130007391C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P339	ENST00000485477.1	37	c.1017	CCDS5819.1	7																																																																																			CPA5	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000158525		0.517	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	93	0.00	0	C	NM_001127441		130007391	130007391	+1	no_errors	ENST00000355388	ensembl	human	known	69_37n	silent	71	14.46	12	SNP	0.361	T
DDX50	79009	genome.wustl.edu	37	10	70666581	70666581	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr10:70666581G>A	ENST00000373585.3	+	2	309	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	68						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TAAAATGAAAGAGAAGCTAAA	0.368																																						dbGAP											0													79.0	80.0	80.0					10																	70666581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.202G>A	10.37:g.70666581G>A	ENSP00000362687:p.Glu68Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E68K	ENST00000373585.3	37	c.202	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428285	0.25726	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.19532	2.14	5.23	4.32	0.51571	.	0.645793	0.15693	N	0.249313	T	0.11410	0.0278	N	0.24115	0.695	0.37926	D	0.931846	B;B	0.32753	0.383;0.383	B;B	0.33339	0.162;0.162	T	0.05162	-1.0902	10	0.02654	T	1	-11.7936	8.7637	0.34689	0.101:0.0:0.899:0.0	.	68;68	Q9BQ39;B4DED6	DDX50_HUMAN;.	K	68	ENSP00000362687:E68K	ENSP00000362687:E68K	E	+	1	0	DDX50	70336587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.206000	0.51098	2.437000	0.82529	0.591000	0.81541	GAG	DDX50	-	NULL	ENSG00000107625		0.368	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	75	0.00	0	G	NM_024045		70666581	70666581	+1	no_errors	ENST00000373585	ensembl	human	known	69_37n	missense	66	22.35	19	SNP	1.000	A
MICU3	286097	genome.wustl.edu	37	8	16942807	16942807	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr8:16942807G>A	ENST00000318063.5	+	6	799	c.757G>A	c.(757-759)Gat>Aat	p.D253N		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	253	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TGAGATGGTGGATAAAAAAGA	0.343																																						dbGAP											0													123.0	128.0	126.0					8																	16942807		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.757G>A	8.37:g.16942807G>A	ENSP00000321455:p.Asp253Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ3	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.W110*	ENST00000318063.5	37	c.330	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.155512|5.155512	0.94686|0.94686	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	D|.	0.88277|.	-2.36|.	5.19|5.19	5.19|5.19	0.71726|0.71726	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83797|.	0.5332|.	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.85799|.	0.1372|.	10|.	0.59425|.	D|.	0.04|.	-30.3321|-30.3321	19.0982|19.0982	0.93263|0.93263	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	253|.	Q86XE3|.	EFHA2_HUMAN|.	N|X	253|110	ENSP00000321455:D253N|.	ENSP00000321455:D253N|.	D|W	+|+	1|3	0|0	EFHA2|EFHA2	16987178|16987178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.448000|9.448000	0.97600|0.97600	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	GAT|TGG	EFHA2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000155970		0.343	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	304	0.00	0	G	NM_181723		16942807	16942807	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519044	ensembl	human	novel	69_37n	nonsense	280	20.45	72	SNP	1.000	A
DKK4	27121	genome.wustl.edu	37	8	42232280	42232280	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr8:42232280C>T	ENST00000220812.2	-	3	600	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	138					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGTTCTTACCCTTCCTGCCTT	0.443																																						dbGAP											0													295.0	271.0	279.0					8																	42232280		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.415+1G>A	8.37:g.42232280C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNX0|Q9Y4C3	Silent	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.K138	ENST00000220812.2	37	c.414	CCDS6130.1	8																																																																																			DKK4	-	NULL	ENSG00000104371		0.443	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	420	0.24	1	C		Silent	42232280	42232280	-1	no_errors	ENST00000220812	ensembl	human	known	69_37n	silent	385	18.26	86	SNP	0.960	T
FGA	2243	genome.wustl.edu	37	4	155506918	155506918	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr4:155506918T>C	ENST00000302053.3	-	5	1741	c.1663A>G	c.(1663-1665)Aca>Gca	p.T555A	FGA_ENST00000403106.3_Missense_Mutation_p.T555A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	555					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTGTATTTGTGAAGATGCCA	0.443																																					NSCLC(143;340 1922 20892 22370 48145)	dbGAP											0													81.0	79.0	80.0					4																	155506918		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1663A>G	4.37:g.155506918T>C	ENSP00000306361:p.Thr555Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.T555A	ENST00000302053.3	37	c.1663	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016017	0.35606	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.57273	0.41;2.82	5.59	-5.45	0.02616	.	3.819160	0.00166	N	0.000007	T	0.40247	0.1109	L	0.50333	1.59	0.09310	N	1	B;B	0.26483	0.008;0.15	B;B	0.23419	0.019;0.046	T	0.22521	-1.0214	10	0.62326	D	0.03	.	0.088	0.00037	0.2762:0.2333:0.1877:0.3027	.	555;555	P02671-2;P02671	.;FIBA_HUMAN	A	555	ENSP00000306361:T555A;ENSP00000385981:T555A	ENSP00000306361:T555A	T	-	1	0	FGA	155726368	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.009000	0.12765	-0.781000	0.04548	0.533000	0.62120	ACA	FGA	-	NULL	ENSG00000171560		0.443	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	89	0.00	0	T	NM_000508		155506918	155506918	-1	no_errors	ENST00000302053	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.000	C
FOXJ1	2302	genome.wustl.edu	37	17	74133620	74133620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr17:74133620delC	ENST00000322957.6	-	3	1434	c.1080delG	c.(1078-1080)gggfs	p.G360fs		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	360					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACCGAAGGCCCCCAGGTGG	0.687																																						dbGAP											0													34.0	27.0	30.0					17																	74133620		2198	4291	6489	-	-	-	SO:0001589	frameshift_variant	0			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.1080delG	17.37:g.74133620delC	ENSP00000323880:p.Gly360fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00630	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P361fs	ENST00000322957.6	37	c.1080	CCDS32739.1	17																																																																																			FOXJ1	-	NULL	ENSG00000129654		0.687	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	10	0.00	0	C	NM_001454		74133620	74133620	-1	no_errors	ENST00000322957	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.832	-
GNB2L1	10399	genome.wustl.edu	37	5	180669195	180669195	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr5:180669195A>C	ENST00000512805.1	-	2	668	c.260T>G	c.(259-261)cTg>cGg	p.L87R	GNB2L1_ENST00000511900.1_Missense_Mutation_p.L87R|SNORD95_ENST00000579879.1_RNA|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000456394.2_Missense_Mutation_p.L87R|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L87R|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L43R|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	87				Missing (in Ref. 4; BAG53102). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CCAGAGGCGCAGGGTTCCATC	0.557																																						dbGAP											0													71.0	74.0	73.0					5																	180669195		2203	4300	6503	-	-	-	SO:0001583	missense	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.260T>G	5.37:g.180669195A>C	ENSP00000426909:p.Leu87Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L87R	ENST00000512805.1	37	c.260	CCDS34324.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.4|29.4	5.005710|5.005710	0.93287|0.93287	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000507756|ENST00000511566;ENST00000376817;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000503081;ENST00000513027;ENST00000456394	.|T;T;T;T;T;T;T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.77|5.77	5.77|5.77	0.91146|0.91146	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80929|0.80929	0.4718|0.4718	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0	D|D	0.84111|0.84111	0.0401|0.0401	5|10	.|0.87932	.|D	.|0	-8.4093|-8.4093	14.04|14.04	0.64669|0.64669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|87;58;135;87	.|E9PD14;B4DVD2;D6R9L0;P63244	.|.;.;.;GBLP_HUMAN	G|R	18|87;43;87;87;87;135;73;46;87;127;87	.|ENSP00000426101:L87R;ENSP00000366013:L43R;ENSP00000426909:L87R;ENSP00000422768:L87R;ENSP00000425008:L87R;ENSP00000423569:L135R;ENSP00000422029:L73R;ENSP00000421416:L46R;ENSP00000424237:L87R;ENSP00000421356:L127R;ENSP00000394470:L87R	.|ENSP00000366013:L43R	C|L	-|-	1|2	0|0	GNB2L1|GNB2L1	180601801|180601801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.868000|8.868000	0.92320|0.92320	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TGC|CTG	GNB2L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000204628		0.557	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	25	0.00	0	A	NM_006098		180669195	180669195	-1	no_errors	ENST00000512805	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.999	C
GPRIN3	285513	genome.wustl.edu	37	4	90169167	90169167	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr4:90169167A>T	ENST00000609438.1	-	2	2613	c.2095T>A	c.(2095-2097)Tcc>Acc	p.S699T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S699T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	699										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCGTCCAAGGATGCACCATAC	0.517																																						dbGAP											0													73.0	69.0	70.0					4																	90169167		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2095T>A	4.37:g.90169167A>T	ENSP00000476603:p.Ser699Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVE4	Missense_Mutation	SNP	NULL	p.S699T	ENST00000609438.1	37	c.2095	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546777	0.65198	.	.	ENSG00000185477	ENST00000333209	T	0.25579	1.79	5.55	5.55	0.83447	.	0.000000	0.32328	N	0.006259	T	0.44644	0.1303	L	0.42245	1.32	0.48571	D	0.999677	D	0.89917	1.0	D	0.91635	0.999	T	0.39440	-0.9614	10	0.87932	D	0	-9.3599	15.6872	0.77421	1.0:0.0:0.0:0.0	.	699	Q6ZVF9	GRIN3_HUMAN	T	699	ENSP00000328672:S699T	ENSP00000328672:S699T	S	-	1	0	GPRIN3	90388190	1.000000	0.71417	0.850000	0.33497	0.098000	0.18820	7.013000	0.76373	2.100000	0.63781	0.533000	0.62120	TCC	GPRIN3	-	NULL	ENSG00000185477		0.517	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	55	0.00	0	A	NM_198281		90169167	90169167	-1	no_errors	ENST00000333209	ensembl	human	known	69_37n	missense	29	35.56	16	SNP	0.998	T
GTF2IRD2B	389524	genome.wustl.edu	37	7	74538956	74538956	+	Silent	SNP	A	A	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:74538956A>G	ENST00000312575.7	+	5	553	c.378A>G	c.(376-378)acA>acG	p.T126T	GTF2IRD2B_ENST00000356115.5_Silent_p.T126T|GTF2IRD2B_ENST00000430511.2_Silent_p.T126T	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						TAGGGACAACAGTGATGGTGC	0.458																																						dbGAP											0													20.0	25.0	23.0					7																	74538956		2182	4267	6449	-	-	-	SO:0001819	synonymous_variant	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.378A>G	7.37:g.74538956A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE9|Q69GU6|Q8N979|Q9H739	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.T126	ENST00000312575.7	37	c.378	CCDS34659.1	7																																																																																			GTF2IRD2B	-	pfam_GTF2I,superfamily_GTF2I,pfscan_GTF2I	ENSG00000174428		0.458	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	44	0.00	0	A	NM_001003795		74538956	74538956	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.000	G
HTRA3	94031	genome.wustl.edu	37	4	8294069	8294069	+	Silent	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr4:8294069C>T	ENST00000307358.2	+	5	1129	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	HTRA3_ENST00000382512.3_Silent_p.L309L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	309	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CGGGGGACCACTGGTGAACCT	0.592																																						dbGAP											0													102.0	87.0	93.0					4																	8294069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.925C>T	4.37:g.8294069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7A2	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kazal-type_dom,pfam_PDZ,pfam_Prot_inh_Kazal,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ	p.L309	ENST00000307358.2	37	c.925	CCDS3400.1	4																																																																																			HTRA3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000170801		0.592	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	13	0.00	0	C	NM_053044		8294069	8294069	+1	no_errors	ENST00000307358	ensembl	human	known	69_37n	silent	57	22.97	17	SNP	0.994	T
KANSL3	55683	genome.wustl.edu	37	2	97267981	97267983	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	GTG	GTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:97267981_97267983delGTG	ENST00000431828.1	-	19	2428_2430	c.2352_2354delCAC	c.(2350-2355)accact>act	p.784_785TT>T	KANSL3_ENST00000599854.1_In_Frame_Del_p.697_698TT>T|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_In_Frame_Del_p.604_605TT>T|KANSL3_ENST00000441706.2_Intron			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	810					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)											GGAGGAGAGAGTGGTGGCCACAG	0.635																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.2352_2354delCAC	2.37:g.97267984_97267986delGTG	ENSP00000396749:p.Thr785del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	In_Frame_Del	DEL	NULL	p.T785in_frame_del	ENST00000431828.1	37	c.2354_2352	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.635	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	117	0.00	0	GTG	NM_017991		97267981	97267983	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	in_frame_del	15	11.76	2	DEL	1.000:1.000:1.000	-
LOC220729	220729	genome.wustl.edu	37	3	197349143	197349143	+	RNA	SNP	T	T	C	rs202141824	byFrequency	TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr3:197349143T>C	ENST00000418868.1	-	0	434					NR_003266.2																						CACGGTGTCATAGAAATGCCA	0.592																																						dbGAP											0																																										-	-	-			0																															3.37:g.197349143T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000418868.1	37	NULL		3																																																																																			AC024560.3	-	-	ENSG00000214135		0.592	AC024560.3-001	KNOWN	basic	processed_transcript	LOC220729	Clone_based_vega_gene	pseudogene	OTTHUMT00000340283.1	17	0.00	0	T			197349143	197349143	-1	no_errors	ENST00000414207	ensembl	human	known	69_37n	rna	24	20.00	6	SNP	1.000	C
LRBA	987	genome.wustl.edu	37	4	151829547	151829547	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr4:151829547G>C	ENST00000357115.3	-	11	1675	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A	LRBA_ENST00000535741.1_Missense_Mutation_p.P478A|LRBA_ENST00000507224.1_Missense_Mutation_p.P478A|LRBA_ENST00000510413.1_Missense_Mutation_p.P478A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	478						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCAAAAAGTGGAAATAGTACT	0.363																																						dbGAP											0													124.0	117.0	119.0					4																	151829547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1432C>G	4.37:g.151829547G>C	ENSP00000349629:p.Pro478Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.P478A	ENST00000357115.3	37	c.1432	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742944	0.89573	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.72827	-0.4175	10	0.72032	D	0.01	.	20.047	0.97613	0.0:0.0:1.0:0.0	.	478;478;478	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	A	478	ENSP00000446299:P478A;ENSP00000421552:P478A;ENSP00000349629:P478A;ENSP00000422180:P478A	ENSP00000349629:P478A	P	-	1	0	LRBA	152048997	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.741000	0.74837	2.802000	0.96397	0.563000	0.77884	CCA	LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	427	0.47	2	G			151829547	151829547	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	155	29.22	64	SNP	1.000	C
LRRC8B	23507	genome.wustl.edu	37	1	90049138	90049138	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr1:90049138A>C	ENST00000330947.2	+	5	1289	c.929A>C	c.(928-930)gAa>gCa	p.E310A	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.E310A|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E310A	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	310					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCTTGGCAGAAATCTTTAAG	0.423																																						dbGAP											0													150.0	153.0	152.0					1																	90049138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.929A>C	1.37:g.90049138A>C	ENSP00000332674:p.Glu310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E310A	ENST00000330947.2	37	c.929	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303440	0.23736	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.40225	1.04;1.04;1.04	5.3	5.3	0.74995	.	0.071815	0.56097	D	0.000021	T	0.17619	0.0423	L	0.36672	1.1	0.42341	D	0.992334	B	0.18461	0.028	B	0.14578	0.011	T	0.06110	-1.0845	10	0.30854	T	0.27	.	10.7351	0.46120	0.8579:0.0:0.0:0.142	.	310	Q6P9F7	LRC8B_HUMAN	A	310	ENSP00000332674:E310A;ENSP00000350933:E310A;ENSP00000400704:E310A	ENSP00000332674:E310A	E	+	2	0	LRRC8B	89821726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.823000	0.55715	2.125000	0.65367	0.533000	0.62120	GAA	LRRC8B	-	NULL	ENSG00000197147		0.423	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	269	0.37	1	A	NM_015350		90049138	90049138	+1	no_errors	ENST00000330947	ensembl	human	known	69_37n	missense	183	24.38	59	SNP	1.000	C
MCTP2	55784	genome.wustl.edu	37	15	95022241	95022241	+	Frame_Shift_Del	DEL	G	G	-	rs141407505	byFrequency	TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr15:95022241delG	ENST00000357742.4	+	22	2615	c.2615delG	c.(2614-2616)cggfs	p.R872fs	MCTP2_ENST00000451018.3_Frame_Shift_Del_p.R817fs|RP11-4F5.2_ENST00000565106.1_lincRNA|MCTP2_ENST00000449432.3_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	872					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGCCCCCTGCGGAAGAAGCGC	0.522																																						dbGAP											0													80.0	73.0	75.0					15																	95022241		2197	4298	6495	-	-	-	SO:0001589	frameshift_variant	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2615delG	15.37:g.95022241delG	ENSP00000350377:p.Arg872fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K873fs	ENST00000357742.4	37	c.2615	CCDS32338.1	15																																																																																			MCTP2	-	NULL	ENSG00000140563		0.522	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	146	0.00	0	G	NM_018349		95022241	95022241	+1	no_errors	ENST00000357742	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
MERTK	10461	genome.wustl.edu	37	2	112767613	112767631	+	Frame_Shift_Del	DEL	ACTTTATTCCCGATTGGAG	ACTTTATTCCCGATTGGAG	-	rs372910380|rs370309420|rs544336039		TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	ACTTTATTCCCGATTGGAG	ACTTTATTCCCGATTGGAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:112767613_112767631delACTTTATTCCCGATTGGAG	ENST00000295408.4	+	15	2306_2324	c.2049_2067delACTTTATTCCCGATTGGAG	c.(2047-2067)ttactttattcccgattggagfs	p.LLYSRLE683fs	MERTK_ENST00000421804.2_Frame_Shift_Del_p.LLYSRLE683fs|MERTK_ENST00000409780.1_Frame_Shift_Del_p.LLYSRLE507fs			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACTTACTTACTTTATTCCCGATTGGAGACAGGACCAA	0.42																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2049_2067delACTTTATTCCCGATTGGAG	2.37:g.112767613_112767631delACTTTATTCCCGATTGGAG	ENSP00000295408:p.Leu683fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBB4	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L684fs	ENST00000295408.4	37	c.2049_2067	CCDS2094.1	2																																																																																			MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000153208		0.420	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	301	0.00	0	ACTTTATTCCCGATTGGAG			112767613	112767631	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	frame_shift_del	222	10.48	26	DEL	0.834:0.999:0.998:0.374:0.462:0.536:0.532:1.000:1.000:0.997:1.000:1.000:0.017:0.164:0.990:0.996:0.998:0.970:0.000	-
METTL7B	196410	genome.wustl.edu	37	12	56076035	56076035	+	Splice_Site	SNP	C	C	A	rs555960398		TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr12:56076035C>A	ENST00000394252.3	+	1	706	c.497C>A	c.(496-498)cCg>cAg	p.P166Q		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	166							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						GTACTGAGACCGGTAAGCAGG	0.622																																						dbGAP											0													33.0	29.0	30.0					12																	56076035		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.498+1C>A	12.37:g.56076035C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.P166Q	ENST00000394252.3	37	c.497	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330263	0.60743	.	.	ENSG00000170439	ENST00000394252	T	0.37411	1.2	4.86	4.86	0.63082	Methyltransferase type 11 (1);	0.117466	0.64402	D	0.000015	T	0.69646	0.3134	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.78889	-0.2026	10	0.66056	D	0.02	-3.9477	15.5599	0.76237	0.0:1.0:0.0:0.0	.	166	Q6UX53	MET7B_HUMAN	Q	166	ENSP00000377796:P166Q	ENSP00000377796:P166Q	P	+	2	0	METTL7B	54362302	0.961000	0.32948	1.000000	0.80357	0.186000	0.23388	1.997000	0.40786	2.508000	0.84585	0.655000	0.94253	CCG	METTL7B	-	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	ENSG00000170439		0.622	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1	50	0.00	0	C	NM_152637	Missense_Mutation	56076035	56076035	+1	no_errors	ENST00000394252	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	A
MT-CO1	4512	genome.wustl.edu	37	M	6283	6283	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chrM:6283C>T	ENST00000361624.2	+	1	380	c.380C>T	c.(379-381)aCa>aTa	p.T127I	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	127					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AACAGGTTGAACAGTCTACCC	0.527																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.380C>T	M.37:g.6283C>T	ENSP00000354499:p.Thr127Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.T127M	ENST00000361624.2	37	c.380		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	ENSG00000198804		0.527	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		116	0.00	0	C	YP_003024028		6283	6283	+1	no_errors	ENST00000361624	ensembl	human	known	69_37n	missense	9	18.18	2	SNP	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	13274	13274	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chrM:13274T>C	ENST00000361567.2	+	1	938	c.938T>C	c.(937-939)aTa>aCa	p.I313T	MT-TR_ENST00000387439.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	313					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACTAGGACTCATAATAGTTAC	0.463																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.938T>C	M.37:g.13274T>C	ENSP00000354813:p.Ile313Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.M313T	ENST00000361567.2	37	c.938		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.463	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		71	0.00	0	T	YP_003024036		13274	13274	+1	no_errors	ENST00000361567	ensembl	human	known	69_37n	missense	2	50.00	2	SNP	NULL	C
MUC4	4585	genome.wustl.edu	37	3	195508194	195508194	+	Silent	SNP	T	T	G	rs569036865	byFrequency	TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr3:195508194T>G	ENST00000463781.3	-	2	10716	c.10257A>C	c.(10255-10257)acA>acC	p.T3419T	MUC4_ENST00000475231.1_Silent_p.T3419T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.587													.|||	137	0.0273562	0.0151	0.0245	5008	,	,		14967	0.005		0.0517	False		,,,				2504	0.044					dbGAP											0													27.0	21.0	23.0					3																	195508194		689	1578	2267	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10257A>C	3.37:g.195508194T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T3419	ENST00000463781.3	37	c.10257	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	8	0.00	0	T	NM_018406		195508194	195508194	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	91	30.00	39	SNP	0.001	G
MYEOV2	150678	genome.wustl.edu	37	2	241066091	241066092	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:241066091_241066092insA	ENST00000307266.3	-	5	646_647	c.647_648insT	c.(646-648)atafs	p.I216fs		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TAGAAACTGATATTGTGCTGTC	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.648dupT	2.37:g.241066092_241066092dupA	ENSP00000304147:p.Ile216fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N110	Frame_Shift_Ins	INS	NULL	p.S217fs	ENST00000307266.3	37	c.648_647	CCDS2532.1	2																																																																																			MYEOV2	-	NULL	ENSG00000172428		0.470	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000257182.2	127	0.00	0	-	NM_138336		241066091	241066092	-1	no_errors	ENST00000307266	ensembl	human	known	69_37n	frame_shift_ins	166	25.56	57	INS	0.000:0.000	A
NCKAP5	344148	genome.wustl.edu	37	2	133887613	133887613	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:133887613T>C	ENST00000409261.1	-	6	651	c.278A>G	c.(277-279)gAg>gGg	p.E93G	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E93G|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E93G|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E93G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	93										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGGGTCACCTCCTGCAACCG	0.468																																						dbGAP											0													102.0	99.0	100.0					2																	133887613		1968	4147	6115	-	-	-	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.278A>G	2.37:g.133887613T>C	ENSP00000387128:p.Glu93Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.E93G	ENST00000409261.1	37	c.278	CCDS46418.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.2|28.2	4.899664|4.899664	0.91962|0.91962	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.53206|.	2.62;0.63;2.62;0.63|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|.	.|.	.|.	.|.	T|T	0.47600|0.47600	0.1454|0.1454	L|L	0.27053|0.27053	0.805|0.805	0.33590|0.33590	D|D	0.601034|0.601034	D;D;D;P|.	0.89917|.	0.994;1.0;1.0;0.918|.	D;D;D;P|.	0.76575|.	0.91;0.983;0.988;0.852|.	T|T	0.58792|0.58792	-0.7574|-0.7574	9|5	0.56958|.	D|.	0.05|.	.|.	13.214|13.214	0.59844|0.59844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	93;68;93;93|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	G|G	93;93;93;93;93;68|89	ENSP00000387128:E93G;ENSP00000386952:E93G;ENSP00000380603:E93G;ENSP00000385692:E93G|.	ENSP00000380603:E93G|.	E|R	-|-	2|1	0|2	NCKAP5|NCKAP5	133604083|133604083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.434000|6.434000	0.73408|0.73408	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAG|AGG	NCKAP5	-	NULL	ENSG00000176771		0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	173	0.57	1	T	NM_207481		133887613	133887613	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	C
NID2	22795	genome.wustl.edu	37	14	52481149	52481149	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr14:52481149C>G	ENST00000216286.5	-	16	3275	c.3276G>C	c.(3274-3276)atG>atC	p.M1092I	NID2_ENST00000541773.1_Missense_Mutation_p.M991I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1092					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGGCCGGACCATGGGTGGAG	0.597											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	55.0	56.0					14																	52481149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3276G>C	14.37:g.52481149C>G	ENSP00000216286:p.Met1092Ile	Somatic	985	WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.M1092I	ENST00000216286.5	37	c.3276	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.498|0.498	-0.872211|-0.872211	0.02570|0.02570	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|D;D	.|0.82526	.|-1.62;-1.51	6.17|6.17	-12.3|-12.3	0.00002|0.00002	.|.	.|0.686246	.|0.15724	.|N	.|0.247766	T|T	0.48804|0.48804	0.1520|0.1520	N|N	0.02916|0.02916	-0.46|-0.46	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.0;0.001;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.44251|0.44251	-0.9340|-0.9340	5|10	.|0.21540	.|T	.|0.41	.|.	6.7878|6.7878	0.23683|0.23683	0.0558:0.2126:0.3145:0.4171|0.0558:0.2126:0.3145:0.4171	.|.	.|686;991;1094;1092	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	R|I	361|1092;686;991;1094	.|ENSP00000216286:M1092I;ENSP00000443730:M991I	.|ENSP00000216286:M1092I	G|M	-|-	1|3	0|0	NID2|NID2	51550899|51550899	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-6.176000|-6.176000	0.00077|0.00077	-3.129000|-3.129000	0.00236|0.00236	-1.114000|-1.114000	0.02060|0.02060	GGT|ATG	NID2	-	NULL	ENSG00000087303		0.597	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	155	0.64	1	C			52481149	52481149	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.000	G
PAK7	57144	genome.wustl.edu	37	20	9546839	9546839	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr20:9546839T>G	ENST00000378429.3	-	6	1729	c.1183A>C	c.(1183-1185)Atc>Ctc	p.I395L	PAK7_ENST00000353224.5_Missense_Mutation_p.I395L|PAK7_ENST00000378423.1_Missense_Mutation_p.I395L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	395	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCCGTGGAGATGTACTGCGAA	0.612																																						dbGAP											0													127.0	121.0	123.0					20																	9546839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1183A>C	20.37:g.9546839T>G	ENSP00000367686:p.Ile395Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I395L	ENST00000378429.3	37	c.1183	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292542	0.23564	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.28255	1.62;1.62;1.62	5.84	4.75	0.60458	.	0.188674	0.56097	D	0.000029	T	0.16085	0.0387	N	0.12182	0.205	0.32143	N	0.585279	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	9	.	.	.	.	9.6398	0.39833	0.0:0.1397:0.0:0.8603	.	395;395	B0AZM9;Q9P286	.;PAK7_HUMAN	L	395;395;395;343	ENSP00000367686:I395L;ENSP00000322957:I395L;ENSP00000367679:I395L	.	I	-	1	0	PAK7	9494839	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.633000	0.37113	1.045000	0.40225	-0.326000	0.08463	ATC	PAK7	-	NULL	ENSG00000101349		0.612	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	106	0.00	0	T			9546839	9546839	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	1.000	G
PDE6C	5146	genome.wustl.edu	37	10	95421855	95421855	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr10:95421855G>A	ENST00000371447.3	+	19	2386	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	750					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GGAACAAGGAGATCTGGAGAG	0.403																																						dbGAP											0													151.0	144.0	146.0					10																	95421855		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2248G>A	10.37:g.95421855G>A	ENSP00000360502:p.Asp750Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D750N	ENST00000371447.3	37	c.2248	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934004	0.92458	.	.	ENSG00000095464	ENST00000371447	D	0.85339	-1.97	4.76	4.76	0.60689	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95767	0.8805	10	0.87932	D	0	.	17.5506	0.87875	0.0:0.0:1.0:0.0	.	750	P51160	PDE6C_HUMAN	N	750	ENSP00000360502:D750N	ENSP00000360502:D750N	D	+	1	0	PDE6C	95411845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.206000	0.95056	2.473000	0.83533	0.655000	0.94253	GAT	PDE6C	-	pfam_PDEase_catalytic_dom,prints_PDEase	ENSG00000095464		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	203	0.00	0	G	NM_006204		95421855	95421855	+1	no_errors	ENST00000371447	ensembl	human	known	69_37n	missense	131	22.94	39	SNP	1.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67589630	67589631	+	In_Frame_Ins	INS	-	-	GATTATATGAAG			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr5:67589630_67589631insGATTATATGAAG	ENST00000521381.1	+	11	2009_2010	c.1393_1394insGATTATATGAAG	c.(1393-1395)aga>aGATTATATGAAGga	p.465_466insLYEG	PIK3R1_ENST00000336483.5_In_Frame_Ins_p.195_196insLYEG|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.465_466insLYEG|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.102_103insLYEG|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.465_466insLYEG|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.165_166insLYEG|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.465_466insLYEG	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	465					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.E462_R465delEYDR(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAATATGATAGATTATATGAA	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	lung(2)|large_intestine(1)|endometrium(1)																																								-	-	-	SO:0001652	inframe_insertion	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1394_1405dupGATTATATGAAG	5.37:g.67589630_67589631insGATTATATGAAG	ENSP00000428056:p.Arg465_Leu466insLeuTyrGluGly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.469in_frame_insGLYE	ENST00000521381.1	37	c.1393_1394	CCDS3993.1	5																																																																																			PIK3R1	-	superfamily_Guanylate-bd_C	ENSG00000145675		0.287	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	60	0.00	0	-	NM_181504		67589630	67589631	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	in_frame_ins	124	18.42	28	INS	1.000:1.000	GATTATATGAAG
PLXNA4	91584	genome.wustl.edu	37	7	131895703	131895703	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:131895703G>A	ENST00000359827.3	-	10	3259	c.2297C>T	c.(2296-2298)tCt>tTt	p.S766F	PLXNA4_ENST00000321063.4_Splice_Site_p.S766F			Q9HCM2	PLXA4_HUMAN	plexin A4	766					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCGACTCACAGAGGTGTTCTG	0.607																																						dbGAP											0													49.0	57.0	55.0					7																	131895703		2199	4299	6498	-	-	-	SO:0001630	splice_region_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2298+1C>T	7.37:g.131895703G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S766F	ENST00000359827.3	37	c.2297	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835502	0.91117	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.58060	0.36;0.36	5.53	5.53	0.82687	.	3.139310	0.00721	N	0.000886	T	0.80793	0.4691	M	0.87456	2.885	0.80722	D	1	D	0.63046	0.992	P	0.62184	0.899	T	0.66567	-0.5891	10	0.62326	D	0.03	.	19.4516	0.94871	0.0:0.0:1.0:0.0	.	766	Q9HCM2	PLXA4_HUMAN	F	766	ENSP00000323194:S766F;ENSP00000352882:S766F	ENSP00000323194:S766F	S	-	2	0	PLXNA4	131546243	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	9.864000	0.99589	2.592000	0.87571	0.563000	0.77884	TCT	PLXNA4	-	NULL	ENSG00000221866		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	31	0.00	0	G	NM_181775	Missense_Mutation	131895703	131895703	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
PPP4R4	57718	genome.wustl.edu	37	14	94741774	94741774	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr14:94741774T>C	ENST00000304338.3	+	24	2667	c.2513T>C	c.(2512-2514)tTa>tCa	p.L838S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	838					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATACTCCCTTACCGAGTACT	0.433																																						dbGAP											0													225.0	211.0	216.0					14																	94741774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2513T>C	14.37:g.94741774T>C	ENSP00000305924:p.Leu838Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L838S	ENST00000304338.3	37	c.2513	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	T	8.972	0.973270	0.18736	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	6.02	0.97574	.	0.433778	0.20281	N	0.095444	T	0.36936	0.0985	N	0.17082	0.46	0.36434	D	0.865101	B	0.30686	0.29	B	0.37091	0.241	T	0.38757	-0.9646	9	0.09338	T	0.73	-5.4106	10.5396	0.45024	0.0:0.0722:0.0:0.9278	.	838	Q6NUP7	PP4R4_HUMAN	S	838	.	ENSP00000305924:L838S	L	+	2	0	PPP4R4	93811527	0.125000	0.22332	0.004000	0.12327	0.265000	0.26407	3.618000	0.54188	2.304000	0.77564	0.528000	0.53228	TTA	PPP4R4	-	NULL	ENSG00000119698		0.433	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	322	0.00	0	T	NM_058237		94741774	94741774	+1	no_errors	ENST00000304338	ensembl	human	known	69_37n	missense	82	35.43	45	SNP	0.009	C
PTPRB	5787	genome.wustl.edu	37	12	70932782	70932782	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr12:70932782C>T	ENST00000261266.5	-	25	5166	c.5137G>A	c.(5137-5139)Gtg>Atg	p.V1713M	PTPRB_ENST00000550358.1_Missense_Mutation_p.V1843M|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1623M|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.V1931M|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1623M|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1623M	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1713	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1713M(2)|p.V1931M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTCGGCCCACGTCTTTTAAC	0.363																																						dbGAP											3	Substitution - Missense(3)	endometrium(3)											64.0	63.0	63.0					12																	70932782		1863	4096	5959	-	-	-	SO:0001583	missense	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5137G>A	12.37:g.70932782C>T	ENSP00000261266:p.Val1713Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V1931M	ENST00000261266.5	37	c.5791	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431232	0.62844	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.85	4.96	0.65561	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.059573	0.64402	D	0.000003	T	0.33673	0.0871	M	0.70595	2.14	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.991;0.991;0.994;0.971;0.995	T	0.06445	-1.0826	10	0.72032	D	0.01	.	9.6883	0.40111	0.1403:0.7895:0.0:0.0703	.	1623;1623;1931;1713;1843	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	M	1931;1623;1843;1623;1623;1713	ENSP00000334928:V1931M;ENSP00000393028:V1623M;ENSP00000448058:V1843M;ENSP00000438927:V1623M;ENSP00000447302:V1623M;ENSP00000261266:V1713M	ENSP00000261266:V1713M	V	-	1	0	PTPRB	69219049	1.000000	0.71417	0.992000	0.48379	0.518000	0.34316	4.516000	0.60496	1.478000	0.48253	0.563000	0.77884	GTG	PTPRB	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000127329		0.363	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	170	0.00	0	C			70932782	70932782	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	missense	202	15.77	38	SNP	1.000	T
RNF2	6045	genome.wustl.edu	37	1	185060756	185060756	+	Silent	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr1:185060756C>T	ENST00000367510.3	+	3	421	c.133C>T	c.(133-135)Cta>Tta	p.L45L	RNF2_ENST00000367509.4_Silent_p.L45L	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	45	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		ACCTCGAAGTCTACACAGTGA	0.353																																						dbGAP											0													180.0	167.0	172.0					1																	185060756		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.133C>T	1.37:g.185060756C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L45	ENST00000367510.3	37	c.133	CCDS1365.1	1																																																																																			RNF2	-	NULL	ENSG00000121481		0.353	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	358	0.28	1	C	NM_007212		185060756	185060756	+1	no_errors	ENST00000367510	ensembl	human	known	69_37n	silent	91	57.08	121	SNP	1.000	T
RTBDN	83546	genome.wustl.edu	37	19	12945620	12945620	+	Silent	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr19:12945620T>C	ENST00000322912.5	-	2	374	c.57A>G	c.(55-57)acA>acG	p.T19T	RTBDN_ENST00000589272.1_Silent_p.T19T|CTD-2265O21.3_ENST00000588469.1_RNA|MAST1_ENST00000591495.1_Intron|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000592204.1_5'Flank	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGAGGGATTCTGTAGCCGAGA	0.577																																						dbGAP											0													120.0	104.0	109.0					19																	12945620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000322912.5:c.57A>G	19.37:g.12945620T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F1T0I8|Q9BWT5	Silent	SNP	pfam_Folate_rcpt-like	p.T19	ENST00000322912.5	37	c.57	CCDS12283.1	19																																																																																			RTBDN	-	NULL	ENSG00000132026		0.577	RTBDN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451512.1	84	0.00	0	T	NM_031429		12945620	12945620	-1	no_errors	ENST00000322912	ensembl	human	known	69_37n	silent	19	38.71	12	SNP	0.008	C
RPL18A	6142	genome.wustl.edu	37	19	17974037	17974037	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr19:17974037C>T	ENST00000222247.5	+	5	577	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	RPL18A_ENST00000599898.1_Missense_Mutation_p.R127C|RPL18A_ENST00000599870.1_Missense_Mutation_p.R137C|RPL18A_ENST00000600147.1_Missense_Mutation_p.R144C|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	166					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GCACAAGCCACGCTTCACCAC	0.617																																						dbGAP											0													29.0	32.0	31.0					19																	17974037		2203	4295	6498	-	-	-	SO:0001583	missense	0			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.496C>T	19.37:g.17974037C>T	ENSP00000222247:p.Arg166Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_L18a/LX	p.R166C	ENST00000222247.5	37	c.496	CCDS12367.1	19	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084150	0.36758	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.68	3.64	0.41730	.	0.112921	0.64402	D	0.000008	T	0.46132	0.1377	L	0.41710	1.295	0.80722	D	1	B	0.16166	0.016	B	0.09377	0.004	T	0.37686	-0.9695	9	0.37606	T	0.19	.	10.8761	0.46913	0.0:0.9059:0.0:0.0941	.	166	Q02543	RL18A_HUMAN	C	144;166	.	ENSP00000222247:R166C	R	+	1	0	RPL18A	17835037	1.000000	0.71417	0.909000	0.35828	0.688000	0.40055	7.688000	0.84153	1.107000	0.41642	-0.229000	0.12294	CGC	RPL18A	-	NULL	ENSG00000105640		0.617	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18A	HGNC	protein_coding	OTTHUMT00000466679.1	51	0.00	0	C	NM_000980		17974037	17974037	+1	no_errors	ENST00000222247	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	0.998	T
SERPINA4	5267	genome.wustl.edu	37	14	95029874	95029874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr14:95029874delC	ENST00000557004.1	+	2	476	c.55delC	c.(55-57)catfs	p.H19fs	SERPINA4_ENST00000555095.1_Frame_Shift_Del_p.H19fs|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Frame_Shift_Del_p.H19fs			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	19					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTTTCTCATGGCCAGCT	0.557																																						dbGAP											0													77.0	76.0	76.0					14																	95029874		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.55delC	14.37:g.95029874delC	ENSP00000450838:p.His19fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XB5|Q86TR9|Q96BZ5	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.H19fs	ENST00000557004.1	37	c.55	CCDS9927.1	14																																																																																			SERPINA4	-	superfamily_Sepin_dom	ENSG00000100665		0.557	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	81	0.00	0	C	NM_006215		95029874	95029874	+1	no_errors	ENST00000298841	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.006	-
SERPINB12	89777	genome.wustl.edu	37	18	61225627	61225627	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr18:61225627C>G	ENST00000269491.1	+	2	211	c.211C>G	c.(211-213)Cct>Gct	p.P71A	SERPINB12_ENST00000382768.1_Missense_Mutation_p.P71A	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	71					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGCAAAGAACCTGACCCTTG	0.458																																						dbGAP											0													96.0	92.0	93.0					18																	61225627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.211C>G	18.37:g.61225627C>G	ENSP00000269491:p.Pro71Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYB4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.P71A	ENST00000269491.1	37	c.211	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913616	0.33815	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.83419	-1.7;-1.72	5.46	0.0133	0.14095	Serpin domain (3);	0.815974	0.10377	N	0.682014	T	0.69637	0.3133	L	0.46947	1.48	0.09310	N	1	P;B	0.34462	0.454;0.245	B;B	0.35182	0.192;0.197	T	0.55655	-0.8107	10	0.06757	T	0.87	.	2.1534	0.03806	0.1448:0.4049:0.2823:0.1679	.	71;71	Q3SYB4;Q96P63	.;SPB12_HUMAN	A	71	ENSP00000269491:P71A;ENSP00000372218:P71A	ENSP00000269491:P71A	P	+	1	0	SERPINB12	59376607	0.000000	0.05858	0.001000	0.08648	0.331000	0.28603	-0.343000	0.07791	0.247000	0.21414	-0.311000	0.09066	CCT	SERPINB12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166634		0.458	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	239	0.42	1	C	NM_080474		61225627	61225627	+1	no_errors	ENST00000269491	ensembl	human	known	69_37n	missense	92	21.37	25	SNP	0.000	G
SLC29A4	222962	genome.wustl.edu	37	7	5339011	5339011	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:5339011C>T	ENST00000396872.3	+	9	1323	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000297195.4_Missense_Mutation_p.P388S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.P374S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	388					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGAGTGGCTGCCCATCCTCAT	0.647																																						dbGAP											0													58.0	41.0	47.0					7																	5339011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1162C>T	7.37:g.5339011C>T	ENSP00000380081:p.Pro388Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.P388S	ENST00000396872.3	37	c.1162	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	26.0	4.697321	0.88830	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.79454	-1.27;-1.27;-1.27	4.46	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89924	0.4061	10	0.72032	D	0.01	-22.2669	15.2818	0.73790	0.0:1.0:0.0:0.0	.	374;388	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	388;388;374	ENSP00000380081:P388S;ENSP00000297195:P388S;ENSP00000385845:P374S	ENSP00000297195:P388S	P	+	1	0	SLC29A4	5305537	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.341000	0.79300	2.037000	0.60232	0.424000	0.28305	CCC	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt	ENSG00000164638		0.647	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	14	0.00	0	C	NM_153247		5339011	5339011	+1	no_errors	ENST00000297195	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	T
SRSF11	9295	genome.wustl.edu	37	1	70716474	70716474	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr1:70716474G>A	ENST00000370950.3	+	13	1523	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	SRSF11_ENST00000405432.1_Missense_Mutation_p.D481N|SRSF11_ENST00000370951.1_Missense_Mutation_p.D480N|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.D421N			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	481					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						AGAAGACATGGATATGAGTGA	0.403																																						dbGAP											0													90.0	82.0	85.0					1																	70716474		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1441G>A	1.37:g.70716474G>A	ENSP00000359988:p.Asp481Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T758|Q8IWE6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D481N	ENST00000370950.3	37	c.1441	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283105	0.59867	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.46	5.46	0.80206	.	0.049169	0.85682	D	0.000000	T	0.65626	0.2709	L	0.54323	1.7	0.80722	D	1	D;P;P	0.54207	0.965;0.9;0.9	P;B;B	0.53450	0.726;0.307;0.307	T	0.68296	-0.5446	9	0.72032	D	0.01	.	19.6842	0.95974	0.0:0.0:1.0:0.0	.	421;480;481	Q5T757;Q8IWE6;Q05519	.;.;SRS11_HUMAN	N	480;481;481;421	.	ENSP00000359987:D421N	D	+	1	0	SRSF11	70489062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.188000	0.94921	2.740000	0.93945	0.455000	0.32223	GAT	SRSF11	-	NULL	ENSG00000116754		0.403	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	111	0.00	0	G	NM_004768		70716474	70716474	+1	no_errors	ENST00000370950	ensembl	human	known	69_37n	missense	71	24.21	23	SNP	1.000	A
STARD4	134429	genome.wustl.edu	37	5	110835655	110835655	+	Missense_Mutation	SNP	G	G	C	rs201832035		TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr5:110835655G>C	ENST00000296632.3	-	6	681	c.547C>G	c.(547-549)Cag>Gag	p.Q183E	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	183	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ACCGCAGACTGAGGAATCATC	0.413																																						dbGAP											0													165.0	156.0	159.0					5																	110835655		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.547C>G	5.37:g.110835655G>C	ENSP00000296632:p.Gln183Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.Q183E	ENST00000296632.3	37	c.547	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936772	0.73557	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.77750	-1.12;-1.12	5.68	5.68	0.88126	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000001	D	0.82783	0.5112	M	0.78801	2.425	0.80722	D	1	P	0.47545	0.897	P	0.46110	0.504	D	0.84239	0.0471	10	0.52906	T	0.07	-5.1522	19.793	0.96468	0.0:0.0:1.0:0.0	.	183	Q96DR4	STAR4_HUMAN	E	183	ENSP00000296632:Q183E;ENSP00000427478:Q183E	ENSP00000296632:Q183E	Q	-	1	0	STARD4	110863554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.690000	0.91761	0.650000	0.86243	CAG	STARD4	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000164211		0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	179	0.00	0	G	NM_139164		110835655	110835655	-1	no_errors	ENST00000296632	ensembl	human	known	69_37n	missense	126	22.22	36	SNP	1.000	C
SUCLA2	8803	genome.wustl.edu	37	13	48528339	48528339	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr13:48528339A>C	ENST00000378654.3	-	8	1099	c.1043T>G	c.(1042-1044)gTt>gGt	p.V348G	SUCLA2_ENST00000534875.1_Missense_Mutation_p.V290G|SUCLA2_ENST00000543413.1_Missense_Mutation_p.V290G|SUCLA2_ENST00000544100.1_Missense_Mutation_p.V214G	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	348					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	ACCACCACCAACATCAAGGAA	0.388																																						dbGAP											0													69.0	70.0	70.0					13																	48528339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1043T>G	13.37:g.48528339A>C	ENSP00000367923:p.Val348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.V348G	ENST00000378654.3	37	c.1043	CCDS9406.1	13	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532942	0.64972	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.48	5.48	0.80851	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	M	0.93420	3.415	0.80722	D	1	P	0.35944	0.529	P	0.46585	0.521	D	0.88598	0.3148	10	0.87932	D	0	-9.2023	15.0357	0.71744	1.0:0.0:0.0:0.0	.	348	Q9P2R7	SUCB1_HUMAN	G	348;326;278;214;290;290;176;278	ENSP00000367923:V348G;ENSP00000443412:V214G;ENSP00000438182:V290G;ENSP00000441056:V290G;ENSP00000392771:V278G	ENSP00000367909:V278G	V	-	2	0	SUCLA2	47426340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.893000	0.92498	2.208000	0.71279	0.454000	0.30748	GTT	SUCLA2	-	pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	ENSG00000136143		0.388	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLA2	HGNC	protein_coding	OTTHUMT00000044852.1	60	0.00	0	A			48528339	48528339	-1	no_errors	ENST00000378654	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	C
TCHH	7062	genome.wustl.edu	37	1	152085491	152085491	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr1:152085491G>A	ENST00000368804.1	-	2	201	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCGACACGCCCATTACTG	0.443																																						dbGAP											0													48.0	48.0	48.0					1																	152085491		1889	4112	6001	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.202C>T	1.37:g.152085491G>A	ENSP00000357794:p.Arg68Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R68C	ENST00000368804.1	37	c.202	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.758956	0.15846	.	.	ENSG00000159450	ENST00000368804	T	0.14516	2.5	4.58	-0.21	0.13176	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.10165	0.0249	L	0.45352	1.415	0.09310	N	1	D	0.71674	0.998	D	0.68943	0.961	T	0.11867	-1.0570	9	0.72032	D	0.01	.	2.5314	0.04703	0.1099:0.3484:0.3635:0.1781	.	68	Q07283	TRHY_HUMAN	C	68	ENSP00000357794:R68C	ENSP00000357794:R68C	R	-	1	0	TCHH	150352115	0.000000	0.05858	0.000000	0.03702	0.481000	0.33189	-0.495000	0.06443	0.174000	0.19809	0.450000	0.29827	CGT	TCHH	-	pfscan_EF_HAND_2	ENSG00000159450		0.443	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	32	0.00	0	G	NM_007113		152085491	152085491	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	39	54.65	47	SNP	0.001	A
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	184	0.00	0	G	NM_000546		7577121	7577121	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	0.830	A
TTN	7273	genome.wustl.edu	37	2	179614907	179614907	+	Intron	SNP	T	T	C			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:179614907T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S4074G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CCCTCTTGACTCATAGATGGA	0.433																																						dbGAP											0													115.0	103.0	107.0					2																	179614907		2203	4299	6502	-	-	-	SO:0001627	intron_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.10360+2943A>G	2.37:g.179614907T>C		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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S4074G	ENST00000591111.1	37	c.12220		2	.	.	.	.	.	.	.	.	.	.	T	8.389	0.839282	0.16891	.	.	ENSG00000155657	ENST00000360870	T	0.59083	0.29	5.76	0.189	0.15119	.	.	.	.	.	T	0.37652	0.1011	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23976	-1.0173	9	0.46703	T	0.11	.	6.1196	0.20146	0.0:0.1468:0.2491:0.6041	.	4074	Q8WZ42-6	.	G	4074	ENSP00000354117:S4074G	ENSP00000354117:S4074G	S	-	1	0	TTN	179323152	0.000000	0.05858	0.035000	0.18076	0.669000	0.39330	0.846000	0.27682	0.151000	0.19162	-0.250000	0.11733	AGT	TTN	-	NULL	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	233	0.00	0	T	NM_133378		179614907	179614907	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	129	21.34	35	SNP	0.000	C
USP15	9958	genome.wustl.edu	37	12	62786838	62786838	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr12:62786838G>A	ENST00000280377.5	+	19	2484	c.2426G>A	c.(2425-2427)tGt>tAt	p.C809Y	USP15_ENST00000393654.3_Missense_Mutation_p.C784Y|USP15_ENST00000353364.3_Missense_Mutation_p.C780Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	809	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTTAGGTATTGTCCGAATTGT	0.343																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0													121.0	114.0	117.0					12																	62786838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2426G>A	12.37:g.62786838G>A	ENSP00000280377:p.Cys809Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.C809Y	ENST00000280377.5	37	c.2426	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727354	0.89390	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;T;T	0.46819	3.52;3.52;0.88;0.86	5.86	5.86	0.93980	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.091326	0.85682	N	0.000000	T	0.78033	0.4220	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82250	-0.0550	9	.	.	.	-11.4014	20.1809	0.98201	0.0:0.0:1.0:0.0	.	809;780	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	Y	780;809;784;11	ENSP00000258123:C780Y;ENSP00000280377:C809Y;ENSP00000377264:C784Y;ENSP00000448372:C11Y	.	C	+	2	0	USP15	61073105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	TGT	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135655		0.343	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	255	0.00	0	G	NM_006313		62786838	62786838	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	missense	207	17.79	45	SNP	1.000	A
VWDE	221806	genome.wustl.edu	37	7	12401070	12401070	+	Silent	SNP	A	A	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:12401070A>G	ENST00000275358.3	-	14	3164	c.2976T>C	c.(2974-2976)tgT>tgC	p.C992C		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	992						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TGGGCAGCTGACAATCAACAG	0.418																																						dbGAP											0													74.0	66.0	68.0					7																	12401070		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.2976T>C	7.37:g.12401070A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM77|Q96SQ3	Silent	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.C992	ENST00000275358.3	37	c.2976	CCDS47544.1	7																																																																																			VWDE	-	NULL	ENSG00000146530		0.418	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	59	0.00	0	A	XM_371878		12401070	12401070	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	silent	82	21.90	23	SNP	0.998	G
XPOT	11260	genome.wustl.edu	37	12	64808758	64808758	+	Silent	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr12:64808758G>A	ENST00000332707.5	+	3	661	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	44	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CTCTAGCCCAGAGGACATACA	0.378																																						dbGAP											0													81.0	86.0	85.0					12																	64808758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.132G>A	12.37:g.64808758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.Q44	ENST00000332707.5	37	c.132	CCDS31852.1	12																																																																																			XPOT	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	ENSG00000184575		0.378	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	102	0.00	0	G	NM_007235		64808758	64808758	+1	no_errors	ENST00000332707	ensembl	human	known	69_37n	silent	284	14.71	49	SNP	1.000	A
PINLYP	390940	genome.wustl.edu	37	19	44079136	44079136	+	5'Flank	SNP	G	G	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr19:44079136G>A	ENST00000599207.1	+	0	0				L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000262887.5_Missense_Mutation_p.L24F|XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)										GCCTTGAGAAGATTTTCTGCA	0.537																																						dbGAP											0													106.0	88.0	94.0					19																	44079136		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079136G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z457|O95053	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L24F	ENST00000599207.1	37	c.70		19	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866666	0.72065	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000538738	T	0.27720	1.65	3.55	3.55	0.40652	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.56396	0.1982	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62872	-0.6762	10	0.87932	D	0	-11.9012	10.9378	0.47255	0.0:0.0:1.0:0.0	.	24	P18887	XRCC1_HUMAN	F	38;24;24	ENSP00000262887:L24F	ENSP00000262887:L24F	L	-	1	0	XRCC1	48770976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.841000	0.55850	2.295000	0.77249	0.655000	0.94253	CTT	XRCC1	-	pfam_Xrcc1_N,superfamily_Galactose-bd-like	ENSG00000073050		0.537	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463346.2	92	0.00	0	G	NM_001193621		44079136	44079136	-1	no_errors	ENST00000262887	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	1.000	A
ZC3H6	376940	genome.wustl.edu	37	2	113088668	113088669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr2:113088668_113088669insA	ENST00000409871.1	+	12	2574_2575	c.2173_2174insA	c.(2173-2175)gaafs	p.E725fs	ZC3H6_ENST00000343936.4_Frame_Shift_Ins_p.E725fs|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	725							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GAAACAAACAGAAACTTTAAGG	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2176dupA	2.37:g.113088671_113088671dupA	ENSP00000386764:p.Glu725fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JR71|Q6ZW96	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.T726fs	ENST00000409871.1	37	c.2173_2174	CCDS46393.1	2																																																																																			ZC3H6	-	NULL	ENSG00000188177		0.386	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	86	0.00	0	-	NM_198581		113088668	113088669	+1	no_errors	ENST00000343936	ensembl	human	known	69_37n	frame_shift_ins	77	24.51	25	INS	1.000:1.000	A
ZNF107	51427	genome.wustl.edu	37	7	64168226	64168226	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr7:64168226A>G	ENST00000395391.1	+	4	2919	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	ZNF107_ENST00000344930.3_Missense_Mutation_p.K515R|ZNF107_ENST00000423627.1_Missense_Mutation_p.K515R			Q9UII5	ZN107_HUMAN	zinc finger protein 107	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACTAGACATAAGATAGTTCAT	0.328																																						dbGAP											0													35.0	36.0	36.0					7																	64168226		2203	4295	6498	-	-	-	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1544A>G	7.37:g.64168226A>G	ENSP00000378789:p.Lys515Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K515R	ENST00000395391.1	37	c.1544	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	9.600	1.128420	0.21041	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.36340	1.26;1.26;1.26	1.27	-0.258	0.12975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26738	0.0654	L	0.28192	0.835	0.09310	N	1	P	0.50819	0.939	P	0.48552	0.581	T	0.12344	-1.0551	8	.	.	.	.	4.1822	0.10381	0.7553:0.0:0.2447:0.0	.	515	Q9UII5	ZN107_HUMAN	R	515	ENSP00000343443:K515R;ENSP00000400037:K515R;ENSP00000378789:K515R	.	K	+	2	0	ZNF107	63805661	0.000000	0.05858	0.019000	0.16419	0.318000	0.28184	0.144000	0.16135	-0.227000	0.09884	0.260000	0.18958	AAG	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	53	0.00	0	A	NM_016220		64168226	64168226	+1	no_errors	ENST00000344930	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	0.018	G
ZNF160	90338	genome.wustl.edu	37	19	53571424	53571424	+	Missense_Mutation	SNP	C	C	T	rs187006418	byFrequency	TCGA-A2-A0SW-01A-11D-A099-09	TCGA-A2-A0SW-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7fbd2807-a5bb-4030-a299-524ec3ab4543	1dfaec53-f1d6-46ff-82af-a90cb3cf69ae	g.chr19:53571424C>T	ENST00000429604.1	-	7	2778	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H	ZNF160_ENST00000418871.1_Missense_Mutation_p.R788H|ZNF160_ENST00000599056.1_Missense_Mutation_p.R788H|ZNF160_ENST00000601421.1_Missense_Mutation_p.R752H	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	788					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTGTAACGCTTTTCTCC	0.443													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22432	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													148.0	135.0	140.0					19																	53571424		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2363G>A	19.37:g.53571424C>T	ENSP00000406201:p.Arg788His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.R788H	ENST00000429604.1	37	c.2363	CCDS12859.1	19	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	14.70	2.612420	0.46631	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.18810	2.19;2.19	2.35	-2.01	0.07410	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.33137	0.985	0.80722	D	1	P	0.36222	0.544	B	0.15052	0.012	T	0.18493	-1.0335	9	0.87932	D	0	.	2.848	0.05549	0.1167:0.1848:0.527:0.1715	.	788	Q9HCG1	ZN160_HUMAN	H	788	ENSP00000406201:R788H;ENSP00000409597:R788H	ENSP00000409597:R788H	R	-	2	0	ZNF160	58263236	0.976000	0.34144	0.000000	0.03702	0.001000	0.01503	3.064000	0.49986	-0.491000	0.06697	-1.058000	0.02302	CGT	ZNF160	-	pfscan_Znf_C2H2	ENSG00000170949		0.443	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	145	0.00	0	C	NM_033288		53571424	53571424	-1	no_errors	ENST00000418871	ensembl	human	known	69_37n	missense	108	25.00	36	SNP	0.886	T
