#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
A2ML1	144568	genome.wustl.edu	37	12	9004924	9004924	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:9004924T>C	ENST00000299698.7	+	20	2762	c.2582T>C	c.(2581-2583)gTc>gCc	p.V861A	A2ML1_ENST00000539547.1_Missense_Mutation_p.V370A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCACAGCTGTCAAATTGGGT	0.502																																																	0													156.0	150.0	152.0					12																	9004924		1986	4163	6149	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2582T>C	12.37:g.9004924T>C	ENSP00000299698:p.Val861Ala			Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.V861A	ENST00000299698.7	37	c.2582	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	T	0.739	-0.776914	0.02929	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.34667	1.35;1.35;1.35	3.22	2.08	0.27032	.	0.949973	0.08588	N	0.923549	T	0.18593	0.0446	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29610	-1.0006	10	0.18710	T	0.47	.	2.3083	0.04180	0.2144:0.2404:0.0:0.5451	.	861	A8K2U0	A2ML1_HUMAN	A	861;861;411;370	ENSP00000299698:V861A;ENSP00000443174:V411A;ENSP00000438292:V370A	ENSP00000299698:V861A	V	+	2	0	A2ML1	8896191	0.000000	0.05858	0.893000	0.35052	0.086000	0.17979	-0.129000	0.10515	0.624000	0.30286	0.379000	0.24179	GTC	A2ML1	-	pfam_SV_autoAg	ENSG00000166535		0.502	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	-	0.00	32	0	T	NM_144670		9004924	+1	tier1	-	no_errors	ENST00000299698	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.172	C
ABCB1	5243	genome.wustl.edu	37	7	87160797	87160797	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:87160797A>G	ENST00000265724.3	-	22	2915	c.2498T>C	c.(2497-2499)cTt>cCt	p.L833P	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.L769P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	833	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATTACAGCAAGCCTGGAACC	0.343																																																	0													74.0	74.0	74.0					7																	87160797		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2498T>C	7.37:g.87160797A>G	ENSP00000265724:p.Leu833Pro		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L833P	ENST00000265724.3	37	c.2498	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187004	0.78789	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91237	-2.81;-2.81	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.067650	0.64402	D	0.000010	D	0.96778	0.8948	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97988	1.0353	10	0.87932	D	0	-20.2678	15.7648	0.78117	1.0:0.0:0.0:0.0	.	769;833	B5AK60;P08183	.;MDR1_HUMAN	P	614;833;769	ENSP00000265724:L833P;ENSP00000444095:L769P	ENSP00000265724:L833P	L	-	2	0	ABCB1	86998733	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.268000	0.89876	2.187000	0.69744	0.402000	0.26972	CTT	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0.00	51	0	A	NM_000927		87160797	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	G
ABCC5	10057	genome.wustl.edu	37	3	183689562	183689562	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:183689562T>A	ENST00000334444.6	-	11	1790	c.1550A>T	c.(1549-1551)aAa>aTa	p.K517I	ABCC5_ENST00000265586.6_Missense_Mutation_p.K517I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	517					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTTGTCTTTTTTCATTTTGGG	0.552																																																	0													71.0	70.0	70.0					3																	183689562		1965	4149	6114	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1550A>T	3.37:g.183689562T>A	ENSP00000333926:p.Lys517Ile		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.K517I	ENST00000334444.6	37	c.1550	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380457	0.61845	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92299	-2.81;-3.01	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);	0.289673	0.39274	N	0.001401	D	0.89733	0.6800	L	0.49126	1.545	0.46927	D	0.999253	P;B	0.40050	0.7;0.04	B;B	0.38880	0.284;0.029	D	0.89193	0.3552	10	0.38643	T	0.18	-10.9957	15.7119	0.77635	0.0:0.0:0.0:1.0	.	517;517	Q86UX3;O15440	.;MRP5_HUMAN	I	517;453;517	ENSP00000333926:K517I;ENSP00000265586:K517I	ENSP00000265586:K517I	K	-	2	0	ABCC5	185172256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.837000	0.62796	2.110000	0.64415	0.533000	0.62120	AAA	ABCC5	-	superfamily_ABC1_TM_dom	ENSG00000114770		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	-	0.00	51	0	T	NM_005688		183689562	-1	tier1	-	no_errors	ENST00000334444	ensembl	human	known	74_37	missense	39.68	38	25	SNP	1.000	A
ABCC9	10060	genome.wustl.edu	37	12	21971136	21971136	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:21971136C>A	ENST00000261201.4	-	30	3718	c.3719G>T	c.(3718-3720)aGt>aTt	p.S1240I	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1204I|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1240I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1240	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CGAAGACCCACTAATGGATGC	0.398																																																	0													174.0	168.0	170.0					12																	21971136		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3719G>T	12.37:g.21971136C>A	ENSP00000261201:p.Ser1240Ile		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S1240I	ENST00000261201.4	37	c.3719	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	1.539	-0.542211	0.04053	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.22	3.3	0.37823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.387554	0.31092	N	0.008270	T	0.72128	0.3422	N	0.10645	0.015	0.21984	N	0.999438	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.55360	-0.8153	10	0.06891	T	0.86	-14.8494	8.7037	0.34340	0.1231:0.5252:0.3517:0.0	.	1240;1240	O60706;O60706-2	ABCC9_HUMAN;.	I	1240;867;1240;1204	ENSP00000261200:S1240I;ENSP00000440521:S867I;ENSP00000261201:S1240I;ENSP00000261202:S1204I	ENSP00000261200:S1240I	S	-	2	0	ABCC9	21862403	0.740000	0.28207	0.925000	0.36789	0.466000	0.32739	1.117000	0.31234	1.418000	0.47098	-0.291000	0.09656	AGT	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0.00	52	0	C	NM_005691		21971136	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.447	A
ABCG1	9619	genome.wustl.edu	37	21	43711671	43711671	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:43711671G>A	ENST00000361802.2	+	13	1739	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M	ABCG1_ENST00000398437.1_Missense_Mutation_p.V678M|ABCG1_ENST00000340588.4_Missense_Mutation_p.V640M|ABCG1_ENST00000398449.3_Missense_Mutation_p.V520M|ABCG1_ENST00000347800.2_Missense_Mutation_p.V517M|ABCG1_ENST00000343687.3_Missense_Mutation_p.V531M|ABCG1_ENST00000398457.2_Missense_Mutation_p.V522M|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	532	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCCGACGCCGTGCGCTTTGT	0.662																																																	0													104.0	87.0	93.0					21																	43711671		2203	4300	6503	SO:0001583	missense	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1594G>A	21.37:g.43711671G>A	ENSP00000354995:p.Val532Met		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.V678M	ENST00000361802.2	37	c.2032	CCDS13682.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.121|9.121	1.008984|1.008984	0.19199|0.19199	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|D;D;D;D;D;D;D	.|0.85861	.|-1.95;-1.95;-1.94;-1.89;-1.95;-2.04;-2.02	4.27|4.27	2.16|2.16	0.27623|0.27623	.|ABC-2 type transporter (1);	.|0.330796	.|0.28001	.|N	.|0.016991	T|T	0.69682|0.69682	0.3138|0.3138	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B;B;B;B	.|0.33477	.|0.02;0.413;0.027;0.011;0.04;0.153	.|B;B;B;B;B;B	.|0.38296	.|0.005;0.27;0.042;0.04;0.04;0.053	T|T	0.60010|0.60010	-0.7346|-0.7346	5|9	.|.	.|.	.|.	-27.761|-27.761	8.9913|8.9913	0.36026|0.36026	0.0:0.557:0.3164:0.1267|0.0:0.557:0.3164:0.1267	.|.	.|543;531;532;520;517;522	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	H|M	267;255;255|522;517;520;532;531;678;640	.|ENSP00000381475:V522M;ENSP00000291524:V517M;ENSP00000381467:V520M;ENSP00000354995:V532M;ENSP00000339744:V531M;ENSP00000381464:V678M;ENSP00000343820:V640M	.|.	R|V	+|+	2|1	0|0	ABCG1|ABCG1	42584740|42584740	0.598000|0.598000	0.26882|0.26882	0.997000|0.997000	0.53966|0.53966	0.809000|0.809000	0.45718|0.45718	1.148000|1.148000	0.31614|0.31614	0.890000|0.890000	0.36211|0.36211	0.591000|0.591000	0.81541|0.81541	CGT|GTG	ABCG1	-	pfam_ABC_2_trans,tigrfam_Pigment_permease	ENSG00000160179		0.662	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	-	0.00	66	0	G	NM_207174		43711671	+1	tier1	-	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.064	A
ACOX1	51	genome.wustl.edu	37	17	73947507	73947507	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:73947507C>T	ENST00000301608.4	-	8	1156	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ACOX1_ENST00000537812.1_Missense_Mutation_p.E328K|ACOX1_ENST00000293217.5_Missense_Mutation_p.E366K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	366					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TCAGGCAGTTCACTCAGGTCC	0.502																																																	0													147.0	128.0	134.0					17																	73947507		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1096G>A	17.37:g.73947507C>T	ENSP00000301608:p.Glu366Lys		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.E366K	ENST00000301608.4	37	c.1096	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409360	0.25378	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69926	-0.44;-0.44;-0.44	5.52	5.52	0.82312	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.046390	0.85682	D	0.000000	T	0.51753	0.1693	N	0.20445	0.575	0.80722	D	1	B;B;B;B	0.17465	0.022;0.015;0.001;0.001	B;B;B;B	0.18871	0.023;0.014;0.002;0.001	T	0.50541	-0.8816	10	0.07030	T	0.85	-15.9365	19.4355	0.94792	0.0:1.0:0.0:0.0	.	298;328;366;366	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	366;366;328;366;298	ENSP00000301608:E366K;ENSP00000293217:E366K;ENSP00000441257:E328K	ENSP00000293217:E366K	E	-	1	0	ACOX1	71459102	0.977000	0.34250	0.998000	0.56505	0.891000	0.51852	1.953000	0.40352	2.593000	0.87608	0.462000	0.41574	GAA	ACOX1	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.502	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1		0.00	67	0	C			73947507	-1			no_errors	ENST00000293217	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T
ADAMTS6	11174	genome.wustl.edu	37	5	64494540	64494540	+	5'UTR	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:64494540T>G	ENST00000314351.5	-	0	52							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTTCCTAAACTTAGGGGTCTT	0.398																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-1270A>C	5.37:g.64494540T>G			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	RNA	SNP	-	NULL	ENST00000314351.5	37	NULL		5																																																																																			ADAMTS6	-	-	ENSG00000049192		0.398	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	-	0.00	20	0	T	NM_197941		64494540	-1	tier1	-	no_errors	ENST00000314351	ensembl	human	known	74_37	rna	63.16	7	12	SNP	0.001	G
ADCY10	55811	genome.wustl.edu	37	1	167780090	167780090	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:167780090G>T	ENST00000367851.4	-	32	4727	c.4543C>A	c.(4543-4545)Cac>Aac	p.H1515N	ADCY10_ENST00000367848.1_Missense_Mutation_p.H1423N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H1362N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1515					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCATCAGGTGGTAGAGCCTT	0.443																																																	0													69.0	69.0	69.0					1																	167780090		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4543C>A	1.37:g.167780090G>T	ENSP00000356825:p.His1515Asn		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.H1515N	ENST00000367851.4	37	c.4543	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006621	0.74932	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.39229	1.09;1.11;1.1	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000024	T	0.55049	0.1896	M	0.65975	2.015	0.29704	N	0.839939	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.989	T	0.60193	-0.7311	9	0.72032	D	0.01	-24.6154	14.757	0.69572	0.0:0.0:1.0:0.0	.	1423;1515	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1362;1515;1423	ENSP00000441992:H1362N;ENSP00000356825:H1515N;ENSP00000356822:H1423N	ENSP00000356822:H1423N	H	-	1	0	ADCY10	166046714	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.720000	0.61944	2.561000	0.86390	0.561000	0.74099	CAC	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1		0.00	51	0	G	NM_018417		167780090	-1			no_errors	ENST00000367851	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
AGBL3	340351	genome.wustl.edu	37	7	134701889	134701889	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:134701889G>C	ENST00000436302.2	+	5	650	c.397G>C	c.(397-399)Gtg>Ctg	p.V133L	AGBL3_ENST00000435976.2_Missense_Mutation_p.V133L|AGBL3_ENST00000458078.1_Missense_Mutation_p.V107L	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	133						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						GGAAGCTACTGTGGTTTATCT	0.388																																																	0													115.0	90.0	98.0					7																	134701889		692	1591	2283	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.397G>C	7.37:g.134701889G>C	ENSP00000388275:p.Val133Leu		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.V107L	ENST00000436302.2	37	c.319	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	g	17.89	3.499912	0.64298	.	.	ENSG00000146856	ENST00000436302;ENST00000458078;ENST00000435976;ENST00000455283	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.65	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.69823	2.125	0.30930	N	0.726987	B	0.31548	0.328	B	0.38683	0.279	T	0.63189	-0.6693	10	0.45353	T	0.12	-13.4292	12.5878	0.56426	0.078:0.0:0.922:0.0	.	133	Q8NEM8-4	.	L	133;107;133;71	ENSP00000388275:V133L;ENSP00000395969:V107L;ENSP00000401220:V133L;ENSP00000412700:V71L	ENSP00000275763:V133L	V	+	1	0	AGBL3	134352429	1.000000	0.71417	0.576000	0.28549	0.903000	0.53119	3.585000	0.53943	1.406000	0.46857	-0.140000	0.14226	GTG	AGBL3	-	NULL	ENSG00000146856		0.388	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	-	0.00	34	0	G	NM_178563		134701889	+1	tier1	-	no_errors	ENST00000458078	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.990	C
AHNAK2	113146	genome.wustl.edu	37	14	105408717	105408717	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105408717G>T	ENST00000333244.5	-	7	13190	c.13071C>A	c.(13069-13071)gtC>gtA	p.V4357V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4357						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCAGCCTGGACCTCCAGAT	0.627																																																	0													108.0	114.0	112.0					14																	105408717		1948	4151	6099	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13071C>A	14.37:g.105408717G>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4357	ENST00000333244.5	37	c.13071	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	141	0	G	NM_138420		105408717	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	48.18	71	66	SNP	0.009	T
AHNAK2	113146	genome.wustl.edu	37	14	105409103	105409103	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105409103C>A	ENST00000333244.5	-	7	12804	c.12685G>T	c.(12685-12687)Gtg>Ttg	p.V4229L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4229						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAGGGCCACTTTGGGCATC	0.647																																																	0													108.0	117.0	114.0					14																	105409103		1855	4085	5940	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12685G>T	14.37:g.105409103C>A	ENSP00000353114:p.Val4229Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4229L	ENST00000333244.5	37	c.12685	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	4.067	0.010251	0.07912	.	.	ENSG00000185567	ENST00000333244	T	0.01438	4.89	3.61	1.56	0.23342	.	0.254426	0.19329	U	0.116949	T	0.05547	0.0146	M	0.75777	2.31	0.09310	N	1	D	0.63880	0.993	D	0.74348	0.983	T	0.22730	-1.0208	10	0.31617	T	0.26	-28.2285	7.4026	0.26973	0.3045:0.5241:0.1714:0.0	.	4229	Q8IVF2	AHNK2_HUMAN	L	4229	ENSP00000353114:V4229L	ENSP00000353114:V4229L	V	-	1	0	AHNAK2	104480148	0.073000	0.21202	0.319000	0.25293	0.036000	0.12997	0.878000	0.28126	0.477000	0.27464	0.306000	0.20318	GTG	AHNAK2	-	NULL	ENSG00000185567		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	148	0	C	NM_138420		105409103	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	16.20	119	23	SNP	0.005	A
AHNAK2	113146	genome.wustl.edu	37	14	105409629	105409629	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105409629C>G	ENST00000333244.5	-	7	12278	c.12159G>C	c.(12157-12159)aaG>aaC	p.K4053N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4053						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTGCACCTTGGGCAGGT	0.632																																																	0													142.0	147.0	146.0					14																	105409629		1855	4098	5953	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12159G>C	14.37:g.105409629C>G	ENSP00000353114:p.Lys4053Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K4053N	ENST00000333244.5	37	c.12159	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	15.63	2.889752	0.52014	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	4.12	4.12	0.48240	.	.	.	.	.	T	0.08133	0.0203	M	0.75447	2.3	0.23946	N	0.996383	D	0.69078	0.997	D	0.78314	0.991	T	0.20075	-1.0286	9	0.32370	T	0.25	.	8.9582	0.35832	0.1648:0.6753:0.1599:0.0	.	4053	Q8IVF2	AHNK2_HUMAN	N	4053	ENSP00000353114:K4053N	ENSP00000353114:K4053N	K	-	3	2	AHNAK2	104480674	0.000000	0.05858	0.977000	0.42913	0.747000	0.42532	-0.119000	0.10676	1.871000	0.54225	0.556000	0.70494	AAG	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	166	0	C	NM_138420		105409629	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	24.14	110	35	SNP	0.944	G
FAM86A	196483	genome.wustl.edu	37	16	5135190	5135190	+	3'UTR	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:5135190G>C	ENST00000427587.4	-	0	1504				ALG1_ENST00000588623.1_3'UTR|FAM86A_ENST00000458008.4_3'UTR|ALG1_ENST00000262374.5_3'UTR|ALG1_ENST00000592661.1_3'UTR	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A							cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CCTGCGTTTGGTCTCCAGGTG	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.*443C>G	16.37:g.5135190G>C			D3DUF0|Q96S85	RNA	SNP	-	NULL	ENST00000427587.4	37	NULL	CCDS10529.1	16																																																																																			ALG1	-	-	ENSG00000033011		0.522	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251713.1	-	0.00	31	0	G	NM_201400		5135190	+1	tier1	-	no_errors	ENST00000592661	ensembl	human	putative	74_37	rna	22.73	17	5	SNP	0.000	C
ANGPTL1	9068	genome.wustl.edu	37	1	178820419	178820419	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:178820419A>T	ENST00000234816.2	-	6	1768	c.1321T>A	c.(1321-1323)Tgg>Agg	p.W441R	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.W441R	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	441	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCATTGTACCACCAGCCTCCT	0.413																																																	0													125.0	113.0	117.0					1																	178820419		2203	4300	6503	SO:0001583	missense	0			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1321T>A	1.37:g.178820419A>T	ENSP00000234816:p.Trp441Arg		Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.W441R	ENST00000234816.2	37	c.1321	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930541	0.73327	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.98090	-4.71;-4.71	5.78	4.64	0.57946	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97974	1.0345	10	0.87932	D	0	.	12.3067	0.54906	0.8729:0.0:0.0:0.1271	.	441	O95841	ANGL1_HUMAN	R	441	ENSP00000234816:W441R;ENSP00000356601:W441R	ENSP00000234816:W441R	W	-	1	0	ANGPTL1	177087042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	1.103000	0.41568	-0.327000	0.08410	TGG	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116194		0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	-	0.00	51	0	A	NM_004673		178820419	-1	tier1	-	no_errors	ENST00000234816	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114195639	114195639	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:114195639G>A	ENST00000357077.4	+	15	1570	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ANK2_ENST00000506722.1_Missense_Mutation_p.R485H|ANK2_ENST00000264366.6_Missense_Mutation_p.R506H|ANK2_ENST00000394537.3_Missense_Mutation_p.R506H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	506					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R506L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTGCCTCCCGCCTGGGTAAG	0.488																																																	1	Substitution - Missense(1)	lung(1)											101.0	97.0	98.0					4																	114195639		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1517G>A	4.37:g.114195639G>A	ENSP00000349588:p.Arg506His		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R506H	ENST00000357077.4	37	c.1517	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.266550	0.95399	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000081	T	0.78972	0.4368	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;P;D;D	0.70716	0.938;0.958;0.806;0.943;0.97	T	0.79584	-0.1743	10	0.66056	D	0.02	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	506;506;506;485;485	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	485;485;485;521;506;506;506;485	ENSP00000423799:R485H;ENSP00000421011:R485H;ENSP00000421067:R485H;ENSP00000424722:R521H;ENSP00000378044:R506H;ENSP00000349588:R506H;ENSP00000264366:R506H	ENSP00000264366:R506H	R	+	2	0	ANK2	114415088	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.792000	0.99085	2.631000	0.89168	0.650000	0.86243	CGC	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	32	0	G	NM_001148		114195639	+1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A
DPH6	89978	genome.wustl.edu	37	15	35529586	35529586	+	Intron	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:35529586A>G	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										CTGATGTGAAAGAACTTGTCC	0.522																																																	0																																										SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-16803T>C	15.37:g.35529586A>G			B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			ANP32AP1	-	-	ENSG00000259516		0.522	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	HGNC	protein_coding	OTTHUMT00000417824.1	-	0.00	84	0	A	NM_080650		35529586	+1	tier1	-	no_errors	ENST00000560832	ensembl	human	known	74_37	rna	83.12	13	64	SNP	1.000	G
AP2M1	1173	genome.wustl.edu	37	3	183896816	183896816	+	Silent	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:183896816C>G	ENST00000292807.5	+	3	394	c.246C>G	c.(244-246)ctC>ctG	p.L82L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.L82L|AP2M1_ENST00000439647.1_Silent_p.L82L|AP2M1_ENST00000411763.2_Silent_p.L107L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	82					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGAATTCCTCTATAAGATGT	0.483																																																	0													137.0	140.0	139.0					3																	183896816		2080	4225	6305	SO:0001819	synonymous_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.246C>G	3.37:g.183896816C>G			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L82	ENST00000292807.5	37	c.246	CCDS43177.1	3																																																																																			AP2M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000161203		0.483	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	-	0.00	38	0	C	NM_004068		183896816	+1	tier1	-	no_errors	ENST00000292807	ensembl	human	known	74_37	silent	25.71	26	9	SNP	1.000	G
ARHGEF10L	55160	genome.wustl.edu	37	1	17944985	17944987	+	Intron	DEL	CCT	CCT	-	rs544006964	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:17944985_17944987delCCT	ENST00000361221.3	+	10	994				ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.S52del|ARHGEF10L_ENST00000375408.3_In_Frame_Del_p.S52del|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000375415.1_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like							cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.68																																																	0																																										SO:0001627	intron_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.836-847CCT>-	1.37:g.17944994_17944996delCCT			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	In_Frame_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S50in_frame_del	ENST00000361221.3	37	c.137_139	CCDS182.1	1																																																																																			ARHGEF10L	-	NULL	ENSG00000074964		0.680	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1		0.00	33	0	CCT	NM_018125		17944987	+1	tier1		no_errors	ENST00000375408	ensembl	human	known	74_37	in_frame_del	9.38	58	6	DEL	0.989:0.989:0.996	-
ASTN2	23245	genome.wustl.edu	37	9	119568025	119568025	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:119568025T>C	ENST00000313400.4	-	13	2382	c.2282A>G	c.(2281-2283)aAg>aGg	p.K761R	ASTN2_ENST00000373996.3_Missense_Mutation_p.K757R|ASTN2_ENST00000361209.2_Missense_Mutation_p.K710R|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	761					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGAGGCACTTGGGGCCCTC	0.478																																																	0													215.0	205.0	208.0					9																	119568025		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2282A>G	9.37:g.119568025T>C	ENSP00000314038:p.Lys761Arg		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.K761R	ENST00000313400.4	37	c.2282		9	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646010	0.67358	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13196	2.78;2.78;2.61;2.81	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	N	0.12182	0.205	0.54753	D	0.999986	P;D;P	0.69078	0.944;0.997;0.935	P;D;P	0.73380	0.465;0.98;0.693	T	0.19516	-1.0303	9	.	.	.	-27.6257	15.2719	0.73708	0.0:0.0:0.0:1.0	.	710;761;757	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	R	761;757;484;710	ENSP00000314038:K761R;ENSP00000363108:K757R;ENSP00000363098:K484R;ENSP00000354504:K710R	.	K	-	2	0	ASTN2	118607846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.359000	0.79477	1.994000	0.58287	0.533000	0.62120	AAG	ASTN2	-	NULL	ENSG00000148219		0.478	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0.00	72	0	T	NM_014010		119568025	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	80.26	15	61	SNP	1.000	C
ASXL3	80816	genome.wustl.edu	37	18	31319382	31319382	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:31319382T>C	ENST00000269197.5	+	11	2014	c.2014T>C	c.(2014-2016)Ttt>Ctt	p.F672L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	672	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGATGAAAACTTTCATGCATC	0.373																																																	0													86.0	81.0	83.0					18																	31319382		1874	4106	5980	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2014T>C	18.37:g.31319382T>C	ENSP00000269197:p.Phe672Leu		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.F672L	ENST00000269197.5	37	c.2014	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	T	1.282	-0.610062	0.03690	.	.	ENSG00000141431	ENST00000269197	T	0.09538	2.97	5.8	4.93	0.64822	.	0.657365	0.13168	N	0.408509	T	0.02418	0.0074	N	0.00289	-1.7	0.22317	N	0.999206	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.02654	T	1	.	11.5687	0.50822	0.0:0.8458:0.0:0.1542	.	672	Q9C0F0	ASXL3_HUMAN	L	672	ENSP00000269197:F672L	ENSP00000269197:F672L	F	+	1	0	ASXL3	29573380	0.634000	0.27190	0.999000	0.59377	0.911000	0.54048	1.095000	0.30964	1.471000	0.48121	-0.386000	0.06593	TTT	ASXL3	-	NULL	ENSG00000141431		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	54	0	T			31319382	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	82.69	9	43	SNP	0.997	C
ATAD2B	54454	genome.wustl.edu	37	2	24046176	24046176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:24046176G>A	ENST00000238789.5	-	16	2426	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	695						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACACTTTTTGCAAGACTGCT	0.403																																																	0													68.0	66.0	66.0					2																	24046176		1921	4140	6061	SO:0001587	stop_gained	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2083C>T	2.37:g.24046176G>A	ENSP00000238789:p.Gln695*		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q695*	ENST00000238789.5	37	c.2083	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.308264	0.98752	.	.	ENSG00000119778	ENST00000238789	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.4005	0.90514	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	ENSP00000238789:Q695X	Q	-	1	0	ATAD2B	23899680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.399000	0.73248	2.433000	0.82419	0.561000	0.74099	CAA	ATAD2B	-	NULL	ENSG00000119778		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1		0.00	58	0	G	NM_017552		24046176	-1			no_errors	ENST00000238789	ensembl	human	known	74_37	nonsense	11.11	40	5	SNP	1.000	A
ATP11A	23250	genome.wustl.edu	37	13	113508799	113508799	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:113508799C>T	ENST00000487903.1	+	19	2286	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	ATP11A_ENST00000375645.3_Missense_Mutation_p.T733M|ATP11A_ENST00000283558.8_Missense_Mutation_p.T733M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T733M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	733					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGCAAGACGGTCCTGCGC	0.657																																																	0													53.0	50.0	51.0					13																	113508799		2199	4299	6498	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2198C>T	13.37:g.113508799C>T	ENSP00000420387:p.Thr733Met		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T733M	ENST00000487903.1	37	c.2198	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822990|3.822990	0.71028|0.71028	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|T;T;T;T	.|0.81247	.|-1.47;-1.47;-1.47;-1.47	4.7|4.7	4.7|4.7	0.59300|0.59300	.|HAD-like domain (1);	.|0.093386	.|0.64402	.|D	.|0.000001	D|D	0.83968|0.83968	0.5369|0.5369	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.997	.|D;D;P	.|0.71414	.|0.973;0.946;0.879	D|D	0.85068|0.85068	0.0938|0.0938	5|10	.|0.46703	.|T	.|0.11	.|.	17.6532|17.6532	0.88170|0.88170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733;733;733	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	W|M	708|733;733;733;733;174	.|ENSP00000420387:T733M;ENSP00000364781:T733M;ENSP00000364796:T733M;ENSP00000283558:T733M	.|ENSP00000283558:T733M	R|T	+|+	1|2	2|0	ATP11A|ATP11A	112556800|112556800	0.998000|0.998000	0.40836|0.40836	0.902000|0.902000	0.35471|0.35471	0.361000|0.361000	0.29550|0.29550	3.544000|3.544000	0.53640|0.53640	2.152000|2.152000	0.67230|0.67230	0.561000|0.561000	0.74099|0.74099	CGG|ACG	ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.657	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3		0.00	27	0	C	NM_015205		113508799	+1			no_errors	ENST00000375630	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32207476	32207476	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:32207476C>G	ENST00000373658.3	-	9	1851	c.1510G>C	c.(1510-1512)Gcc>Ccc	p.A504P	BAI2_ENST00000398547.1_Missense_Mutation_p.A437P|BAI2_ENST00000373655.2_Missense_Mutation_p.A504P|BAI2_ENST00000527361.1_Missense_Mutation_p.A504P|BAI2_ENST00000398542.1_Missense_Mutation_p.A437P|BAI2_ENST00000398556.3_Missense_Mutation_p.A452P|BAI2_ENST00000440175.2_Missense_Mutation_p.A146P|BAI2_ENST00000398538.1_Missense_Mutation_p.A492P|BAI2_ENST00000257070.4_Missense_Mutation_p.A504P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	504	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGCCCGTGGCCTGGCACATG	0.637																																																	0													64.0	68.0	67.0					1																	32207476		2203	4299	6502	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1510G>C	1.37:g.32207476C>G	ENSP00000362762:p.Ala504Pro		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A504P	ENST00000373658.3	37	c.1510	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476703	0.84640	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001571	T	0.56217	0.1970	N	0.17248	0.465	0.46437	D	0.999047	D;P;D;P;D;D;D	0.63880	0.993;0.934;0.98;0.842;0.984;0.991;0.984	P;P;P;P;P;P;P	0.62560	0.904;0.609;0.844;0.718;0.904;0.844;0.904	T	0.63047	-0.6724	10	0.66056	D	0.02	.	17.3262	0.87248	0.0:1.0:0.0:0.0	.	437;504;492;146;437;504;504	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	P	452;437;504;504;437;504;504;146;492;442;483	ENSP00000381564:A452P;ENSP00000381555:A437P;ENSP00000362762:A504P;ENSP00000362759:A504P;ENSP00000381550:A437P;ENSP00000257070:A504P;ENSP00000435397:A504P;ENSP00000391071:A146P;ENSP00000381548:A492P;ENSP00000410921:A442P;ENSP00000437219:A483P	ENSP00000257070:A504P	A	-	1	0	BAI2	31980063	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.457000	0.83068	0.561000	0.74099	GCC	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	20	0	C	NM_001703		32207476	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G
BAK1	578	genome.wustl.edu	37	6	33541885	33541885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:33541885G>A	ENST00000374467.3	-	5	705	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	BAK1_ENST00000360661.5_Nonsense_Mutation_p.Q153*|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	153					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CGGGTCACCTGGCCTAGGAAG	0.597																																																	0													64.0	58.0	60.0					6																	33541885		2203	4300	6503	SO:0001587	stop_gained	0			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.457C>T	6.37:g.33541885G>A	ENSP00000363591:p.Gln153*		C0H5Y7|Q6I9T6|Q92533	Nonsense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.Q153*	ENST00000374467.3	37	c.457	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.319443	0.97471	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	.	.	.	4.64	2.78	0.32641	.	0.272322	0.25912	N	0.027487	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-2.6624	8.1733	0.31268	0.0:0.1547:0.5264:0.319	.	.	.	.	X	133;153;153	.	ENSP00000353878:Q153X	Q	-	1	0	BAK1	33649863	0.984000	0.35163	0.997000	0.53966	0.973000	0.67179	0.798000	0.27014	0.541000	0.28827	0.585000	0.79938	CAG	BAK1	-	pfam_Blc2_fam,pfscan_Bcl2-like	ENSG00000030110		0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	-	0.00	35	0	G	NM_001188		33541885	-1	tier1	-	no_errors	ENST00000360661	ensembl	human	known	74_37	nonsense	54.55	20	24	SNP	0.936	A
BAI3	577	genome.wustl.edu	37	6	69759213	69759213	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:69759213T>G	ENST00000370598.1	+	15	3129	c.2308T>G	c.(2308-2310)Tta>Gta	p.L770V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	770					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATACAAAAACTTAGATCTAAT	0.279																																																	0													69.0	70.0	70.0					6																	69759213		2202	4298	6500	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2308T>G	6.37:g.69759213T>G	ENSP00000359630:p.Leu770Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L770V	ENST00000370598.1	37	c.2308	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352674	0.61293	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.28	4.1	0.47936	Domain of unknown function DUF3497 (1);	0.000000	0.64402	D	0.000005	T	0.28001	0.0690	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.02263	-1.1186	10	0.66056	D	0.02	.	11.664	0.51363	0.0:0.0729:0.0:0.9271	.	770	O60242	BAI3_HUMAN	V	770	ENSP00000359630:L770V	ENSP00000359630:L770V	L	+	1	2	BAI3	69815934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.076000	0.50081	2.111000	0.64477	0.533000	0.62120	TTA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.279	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0.00	51	0	T			69759213	+1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	G
BBS9	27241	genome.wustl.edu	37	7	33644812	33644812	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:33644812T>G	ENST00000242067.6	+	23	3159	c.2638T>G	c.(2638-2640)Tca>Gca	p.S880A	BBS9_ENST00000354265.4_Missense_Mutation_p.S845A|BBS9_ENST00000396127.2_Missense_Mutation_p.S845A|BBS9_ENST00000355070.2_Missense_Mutation_p.S875A|BBS9_ENST00000350941.3_Missense_Mutation_p.S840A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	880					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCCAGAAGTTTCACCCCTCCA	0.438									Bardet-Biedl syndrome																																								0													92.0	97.0	95.0					7																	33644812		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2638T>G	7.37:g.33644812T>G	ENSP00000242067:p.Ser880Ala		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.S880A	ENST00000242067.6	37	c.2638	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199756	0.38905	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.56103	0.49;0.48;0.48;0.49;0.48	5.06	-2.22	0.06952	.	0.667620	0.12449	N	0.467917	T	0.28101	0.0693	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B	0.15930	0.004;0.015;0.004;0.015	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.25606	-1.0127	10	0.09084	T	0.74	-0.1014	5.4678	0.16652	0.0:0.1989:0.4827:0.3184	.	840;875;845;880	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	A	880;840;845;875;845;880	ENSP00000242067:S880A;ENSP00000313122:S840A;ENSP00000379433:S845A;ENSP00000347182:S875A;ENSP00000346214:S845A	ENSP00000242067:S880A	S	+	1	0	BBS9	33611337	0.012000	0.17670	0.219000	0.23793	0.932000	0.56968	-0.300000	0.08243	-0.119000	0.11830	0.459000	0.35465	TCA	BBS9	-	NULL	ENSG00000122507		0.438	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0.00	70	0	T			33644812	+1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	38.46	56	35	SNP	0.114	G
BMP5	653	genome.wustl.edu	37	6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:55620351G>A	ENST00000370830.3	-	7	2043	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_ENST00000446683.2_Missense_Mutation_p.R412C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	449					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328																																																	0													55.0	58.0	57.0					6																	55620351		2203	4299	6502	SO:0001583	missense	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1345C>T	6.37:g.55620351G>A	ENSP00000359866:p.Arg449Cys		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R449C	ENST00000370830.3	37	c.1345	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408449	0.62399	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89415	-2.51;-2.51	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.93716	0.7028	10	0.87932	D	0	.	15.0392	0.71774	0.0:0.0:0.8579:0.1421	.	412;449	B4E0Y4;P22003	.;BMP5_HUMAN	C	449;412	ENSP00000359866:R449C;ENSP00000391818:R412C	ENSP00000359866:R449C	R	-	1	0	BMP5	55728310	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	5.038000	0.64177	2.854000	0.98071	0.655000	0.94253	CGC	BMP5	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000112175		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	-	0.00	73	0	G			55620351	-1	tier1	-	no_errors	ENST00000370830	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.993	A
BRCA2	675	genome.wustl.edu	37	13	32911231	32911231	+	Missense_Mutation	SNP	C	C	G	rs276174829		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:32911231C>G	ENST00000380152.3	+	11	2972	c.2739C>G	c.(2737-2739)gaC>gaG	p.D913E	BRCA2_ENST00000544455.1_Missense_Mutation_p.D913E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	913	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGAAACAGACTTGACTTGTG	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													68.0	72.0	71.0					13																	32911231		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2739C>G	13.37:g.32911231C>G	ENSP00000369497:p.Asp913Glu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.D913E	ENST00000380152.3	37	c.2739	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298809	0.40694	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.60040	0.22;0.22	5.98	2.53	0.30540	.	0.881509	0.10019	N	0.726191	T	0.42743	0.1216	L	0.47190	1.495	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.12915	-1.0529	10	0.10902	T	0.67	.	9.4763	0.38873	0.0:0.6868:0.0:0.3132	.	913	P51587	BRCA2_HUMAN	E	913	ENSP00000369497:D913E;ENSP00000439902:D913E	ENSP00000369497:D913E	D	+	3	2	BRCA2	31809231	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.479000	0.06567	0.675000	0.31264	0.591000	0.81541	GAC	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0.00	24	0	C	NM_000059		32911231	+1			no_errors	ENST00000380152	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	G
BRINP2	57795	genome.wustl.edu	37	1	177249999	177249999	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:177249999C>G	ENST00000361539.4	+	8	1999	c.1687C>G	c.(1687-1689)Ctg>Gtg	p.L563V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	563					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAAGCCTGGGCTGGTGCACGT	0.567																																																	0													58.0	49.0	52.0					1																	177249999		2203	4300	6503	SO:0001583	missense	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1687C>G	1.37:g.177249999C>G	ENSP00000354481:p.Leu563Val		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L563V	ENST00000361539.4	37	c.1687	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744418	0.30865	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14766	2.48	5.36	5.36	0.76844	.	0.074507	0.56097	D	0.000034	T	0.23611	0.0571	M	0.64997	1.995	0.49299	D	0.999777	D;B	0.60160	0.987;0.363	P;B	0.55087	0.768;0.138	T	0.00728	-1.1591	10	0.35671	T	0.21	-10.6285	8.1921	0.31374	0.1578:0.7624:0.0:0.0798	.	458;563	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	316;563	ENSP00000354481:L563V	ENSP00000354481:L563V	L	+	1	2	FAM5B	175516622	0.992000	0.36948	1.000000	0.80357	0.973000	0.67179	0.682000	0.25335	2.514000	0.84764	0.313000	0.20887	CTG	BRINP2	-	NULL	ENSG00000198797		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0.00	23	0	C	NM_021165		177249999	+1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	64.00	9	16	SNP	1.000	G
BRSK1	84446	genome.wustl.edu	37	19	55817771	55817771	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:55817771G>A	ENST00000309383.1	+	17	2319	c.2042G>A	c.(2041-2043)gGc>gAc	p.G681D	BRSK1_ENST00000326848.7_Missense_Mutation_p.G376D|BRSK1_ENST00000590333.1_Missense_Mutation_p.G697D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	681					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGACGGGACGGCAGCGGAGGT	0.637																																																	0													95.0	75.0	82.0					19																	55817771		2203	4300	6503	SO:0001583	missense	0			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2042G>A	19.37:g.55817771G>A	ENSP00000310649:p.Gly681Asp		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.G697D	ENST00000309383.1	37	c.2090	CCDS12921.1	19	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581176	0.46006	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71579	-0.58;1.93	3.94	3.94	0.45596	.	0.306169	0.25256	N	0.032000	T	0.60038	0.2238	N	0.19112	0.55	0.46586	D	0.999119	P;P	0.50272	0.89;0.933	B;P	0.45506	0.29;0.483	T	0.65726	-0.6098	10	0.54805	T	0.06	.	13.9814	0.64306	0.0:0.0:1.0:0.0	.	681;697	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	D	681;376;376	ENSP00000310649:G681D;ENSP00000320853:G376D	ENSP00000310649:G681D	G	+	2	0	BRSK1	60509583	0.987000	0.35691	0.110000	0.21437	0.578000	0.36192	4.969000	0.63735	2.524000	0.85096	0.555000	0.69702	GGC	BRSK1	-	NULL	ENSG00000160469		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1		0.00	40	0	G	NM_032430		55817771	+1			no_errors	ENST00000590333	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.943	A
C10orf76	79591	genome.wustl.edu	37	10	103792733	103792733	+	Intron	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:103792733A>C	ENST00000370033.4	-	4	426				C10orf76_ENST00000311122.5_Intron	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GATGTGTTACAATTCCTTTCT	0.423																																																	0													57.0	56.0	56.0					10																	103792733		1891	4111	6002	SO:0001627	intron_variant	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.306+49T>G	10.37:g.103792733A>C			Q2TB87|Q9H8Z9	RNA	SNP	-	NULL	ENST00000370033.4	37	NULL	CCDS41563.1	10																																																																																			C10orf76	-	-	ENSG00000120029		0.423	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0.00	44	0	A	NM_024541		103792733	-1	tier1	-	no_errors	ENST00000470043	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.000	C
C10orf90	118611	genome.wustl.edu	37	10	128114440	128114440	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:128114440G>A	ENST00000284694.7	-	9	2213	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V|C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000356858.3_3'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	698	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A698V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGTTAGACCGCATTCCTTTG	0.483																																																	1	Substitution - Missense(1)	prostate(1)											105.0	98.0	100.0					10																	128114440		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2093C>T	10.37:g.128114440G>A	ENSP00000284694:p.Ala698Val		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.A795V	ENST00000284694.7	37	c.2384	CCDS31310.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398313|4.398313	0.83120|0.83120	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758|ENST00000424927	T;T;T|.	0.22134|.	1.97;2.06;1.98|.	5.58|5.58	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.43919|.	D|.	0.000505|.	T|T	0.37812|0.37812	0.1017|0.1017	N|N	0.08118|0.08118	0|0	0.38199|0.38199	D|D	0.94014|0.94014	D;D;D|.	0.69078|.	0.997;0.996;0.99|.	P;P;P|.	0.55508|.	0.766;0.777;0.665|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|5	0.52906|.	T|.	0.07|.	-21.9319|-21.9319	13.9111|13.9111	0.63866|0.63866	0.0:0.0:0.8492:0.1508|0.0:0.0:0.8492:0.1508	.|.	795;698;601|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	V|W	651;698;601;795|241	ENSP00000284694:A698V;ENSP00000398786:A601V;ENSP00000444369:A795V|.	ENSP00000284694:A698V|.	A|R	-|-	2|1	0|2	C10orf90|C10orf90	128104430|128104430	0.993000|0.993000	0.37304|0.37304	0.072000|0.072000	0.20136|0.20136	0.343000|0.343000	0.28985|0.28985	4.314000|4.314000	0.59166|0.59166	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GCG|CGG	C10orf90	-	NULL	ENSG00000154493		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0.00	97	0	G	NM_001004298		128114440	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.080	A
ERICH3	127254	genome.wustl.edu	37	1	75037276	75037276	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:75037276T>C	ENST00000326665.5	-	14	4336	c.4118A>G	c.(4117-4119)aAt>aGt	p.N1373S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1373	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGCTTTATTTGCTATTGT	0.517																																																	0													127.0	129.0	129.0					1																	75037276		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.4118A>G	1.37:g.75037276T>C	ENSP00000322609:p.Asn1373Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.N1373S	ENST00000326665.5	37	c.4118	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571725	0.28003	.	.	ENSG00000178965	ENST00000326665	T	0.25912	1.77	4.63	4.63	0.57726	.	.	.	.	.	T	0.08133	0.0203	N	0.24115	0.695	0.36996	D	0.895019	P	0.40731	0.728	B	0.41036	0.346	T	0.09207	-1.0685	9	0.11182	T	0.66	-7.1383	13.0102	0.58727	0.0:0.0:0.0:1.0	.	1373	Q5RHP9	CA173_HUMAN	S	1373	ENSP00000322609:N1373S	ENSP00000322609:N1373S	N	-	2	0	C1orf173	74809864	0.161000	0.22892	0.021000	0.16686	0.661000	0.39034	1.165000	0.31822	1.727000	0.51537	0.459000	0.35465	AAT	C1orf173	-	NULL	ENSG00000178965		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0.00	34	0	T			75037276	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.102	C
CFAP74	85452	genome.wustl.edu	37	1	1922389	1922389	+	Missense_Mutation	SNP	C	C	G	rs535519650		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:1922389C>G	ENST00000434971.2	-	2	39	c.7G>C	c.(7-9)Gat>Cat	p.D3H				Q69YW0	CA222_HUMAN		0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCCGTCATCCTCCATGCTG	0.403																																																	0													52.0	52.0	52.0					1																	1922389		1902	4120	6022	SO:0001583	missense	0																														ENST00000434971.2:c.7G>C	1.37:g.1922389C>G	ENSP00000408078:p.Asp3His			Missense_Mutation	SNP	NULL	p.D3H	ENST00000434971.2	37	c.7		1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000142609	ENST00000270720;ENST00000434971	T	0.51817	0.69	2.88	0.966	0.19667	.	.	.	.	.	T	0.33731	0.0873	N	0.14661	0.345	0.18873	N	0.999982	D;P	0.55605	0.972;0.919	P;B	0.49047	0.599;0.366	T	0.14896	-1.0456	9	0.66056	D	0.02	-7.6145	4.9678	0.14100	0.0:0.7045:0.0:0.2955	.	3;3	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	3	ENSP00000408078:D3H	ENSP00000270720:D3H	D	-	1	0	C1orf222	1912249	0.127000	0.22367	0.461000	0.27105	0.001000	0.01503	0.327000	0.19663	0.269000	0.21961	-0.237000	0.12165	GAT	C1orf222	-	NULL	ENSG00000142609		0.403	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		-	0.00	62	0	C			1922389	-1	tier1	-	no_errors	ENST00000434971	ensembl	human	known	74_37	missense	9.41	77	8	SNP	0.521	G
C1orf94	84970	genome.wustl.edu	37	1	34666611	34666611	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:34666611A>C	ENST00000488417.1	+	3	1368	c.1248A>C	c.(1246-1248)gaA>gaC	p.E416D	C1orf94_ENST00000373374.3_Missense_Mutation_p.E226D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	416										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACAAAGTGGAAGTGGATGGGC	0.572																																																	0													34.0	33.0	33.0					1																	34666611		2201	4299	6500	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1248A>C	1.37:g.34666611A>C	ENSP00000435634:p.Glu416Asp		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E416D	ENST00000488417.1	37	c.1248	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	A	8.452	0.853332	0.17106	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.27104	1.69;1.69	5.73	-6.22	0.02058	.	0.451445	0.19549	N	0.111614	T	0.09642	0.0237	L	0.28400	0.85	0.18873	N	0.999983	B	0.11235	0.004	B	0.08055	0.003	T	0.28808	-1.0032	10	0.13470	T	0.59	-11.0279	1.2798	0.02038	0.1727:0.3184:0.1636:0.3453	.	416	Q6P1W5	CA094_HUMAN	D	226;416	ENSP00000362472:E226D;ENSP00000435634:E416D	ENSP00000362472:E226D	E	+	3	2	C1orf94	34439198	0.821000	0.29204	0.955000	0.39395	0.056000	0.15407	-0.556000	0.05992	-0.319000	0.08652	0.533000	0.62120	GAA	C1orf94	-	NULL	ENSG00000142698		0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0.00	56	0	A	NM_032884		34666611	+1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	missense	70.83	14	34	SNP	0.393	C
ERICH3	127254	genome.wustl.edu	37	1	75038064	75038064	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:75038064T>A	ENST00000326665.5	-	14	3548	c.3330A>T	c.(3328-3330)agA>agT	p.R1110S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1110	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCAGCTCTTACTTCTG	0.463																																																	0													104.0	111.0	109.0					1																	75038064		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3330A>T	1.37:g.75038064T>A	ENSP00000322609:p.Arg1110Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.R1110S	ENST00000326665.5	37	c.3330	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570505	0.28003	.	.	ENSG00000178965	ENST00000326665	T	0.17370	2.28	4.73	-7.23	0.01480	.	.	.	.	.	T	0.02012	0.0063	L	0.40543	1.245	0.09310	N	1	B	0.21606	0.058	B	0.16289	0.015	T	0.42699	-0.9436	9	0.08837	T	0.75	0.0566	0.6807	0.00874	0.3202:0.2164:0.1041:0.3593	.	1110	Q5RHP9	CA173_HUMAN	S	1110	ENSP00000322609:R1110S	ENSP00000322609:R1110S	R	-	3	2	C1orf173	74810652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.785000	0.04628	-0.800000	0.04433	-0.379000	0.06801	AGA	C1orf173	-	NULL	ENSG00000178965		0.463	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0.00	59	0	T			75038064	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	57.14	21	28	SNP	0.000	A
C6orf118	168090	genome.wustl.edu	37	6	165713939	165713939	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:165713939A>G	ENST00000230301.8	-	3	810	c.790T>C	c.(790-792)Ttc>Ctc	p.F264L	C6orf118_ENST00000543069.1_Missense_Mutation_p.F160L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	264										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGTCTGTTGAACTGCTGGGGG	0.413																																																	0													129.0	150.0	143.0					6																	165713939		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.790T>C	6.37:g.165713939A>G	ENSP00000230301:p.Phe264Leu		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.F264L	ENST00000230301.8	37	c.790	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447047	0.04572	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13196	2.61;2.61	5.13	-3.4	0.04853	.	0.947894	0.08760	N	0.897916	T	0.02888	0.0086	L	0.34521	1.04	0.09310	N	1	B	0.15141	0.012	B	0.18561	0.022	T	0.46247	-0.9205	10	0.19147	T	0.46	.	11.1098	0.48226	0.5139:0.0:0.4861:0.0	.	264	Q5T5N4	CF118_HUMAN	L	264;160	ENSP00000230301:F264L;ENSP00000439288:F160L	ENSP00000230301:F264L	F	-	1	0	C6orf118	165633929	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.246000	0.18160	-0.585000	0.05905	-0.912000	0.02778	TTC	C6orf118	-	NULL	ENSG00000112539		0.413	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0.00	45	0	A	NM_144980		165713939	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.000	G
C7orf69	80099	genome.wustl.edu	37	7	47859191	47859191	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:47859191A>G	ENST00000258776.4	+	3	410	c.365A>G	c.(364-366)aAa>aGa	p.K122R	C7orf69_ENST00000418326.2_Missense_Mutation_p.K103R|PKD1L1_ENST00000289672.2_Intron	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	122						extracellular region (GO:0005576)				lung(2)	2						TGGTTTCACAAATGAGGAGGC	0.423																																																	0													75.0	71.0	72.0					7																	47859191		1873	4112	5985	SO:0001583	missense	0			BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275			21911	protein-coding gene	gene with protein product							Standard	NM_025031		Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000258776.4:c.365A>G	7.37:g.47859191A>G	ENSP00000258776:p.Lys122Arg		A4D2F1|Q14CN7|Q75MJ5	Missense_Mutation	SNP	NULL	p.K103R	ENST00000258776.4	37	c.308	CCDS43581.1	7	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236202	0.22626	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.53206	0.63	4.2	1.74	0.24563	.	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.40410	0.328	T	0.11372	-1.0590	9	0.87932	D	0	.	3.0174	0.06064	0.6706:0.0:0.1165:0.2129	.	122	Q9H7B7	CG069_HUMAN	R	122;103	ENSP00000258776:K122R	ENSP00000258776:K122R	K	+	2	0	C7orf69	47825716	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.491000	0.06474	0.169000	0.19679	0.533000	0.62120	AAA	C7orf69	-	NULL	ENSG00000136275		0.423	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	C7orf69	HGNC	protein_coding	OTTHUMT00000340973.1		0.00	43	0	A	NM_025031		47859191	+1			no_errors	ENST00000418326	ensembl	human	putative	74_37	missense	5.00	38	2	SNP	0.001	G
C9orf50	375759	genome.wustl.edu	37	9	132375866	132375866	+	Silent	SNP	G	G	A	rs146176082		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:132375866G>A	ENST00000372478.4	-	5	1092	c.891C>T	c.(889-891)agC>agT	p.S297S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	297										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCACAATGACGCTCTGTTGGA	0.632																																																	0													66.0	66.0	66.0					9																	132375866		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.891C>T	9.37:g.132375866G>A			Q2M1I2|Q8NA65	Silent	SNP	NULL	p.S297	ENST00000372478.4	37	c.891	CCDS35159.1	9																																																																																			C9orf50	-	NULL	ENSG00000179058		0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	-	0.00	45	0	G	NM_199350		132375866	-1	tier1	-	no_errors	ENST00000372478	ensembl	human	known	74_37	silent	21.54	51	14	SNP	0.002	A
CADM1	23705	genome.wustl.edu	37	11	115061610	115061610	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:115061610G>C	ENST00000536727.1	-	9	1099	c.1079C>G	c.(1078-1080)tCa>tGa	p.S360*	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S388*|CADM1_ENST00000452722.3_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Intron					cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCCCTTACCTGAGAGGTCCTC	0.458																																																	0													31.0	27.0	28.0					11																	115061610		874	1987	2861	SO:0001587	stop_gained	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000536727.1:c.1079C>G	11.37:g.115061610G>C	ENSP00000440322:p.Ser360*			Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.S388*	ENST00000536727.1	37	c.1163		11	.	.	.	.	.	.	.	.	.	.	G	37	6.348426	0.97494	.	.	ENSG00000182985	ENST00000536727;ENST00000331581	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	17.7327	0.88383	0.0:0.0:1.0:0.0	.	.	.	.	X	360;388	.	ENSP00000329797:S388X	S	-	2	0	CADM1	114566820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.701000	0.92244	0.563000	0.77884	TCA	CADM1	-	NULL	ENSG00000182985		0.458	CADM1-006	NOVEL	basic	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398755.2	-	0.00	52	0	G	NM_014333		115061610	-1	tier1	-	no_errors	ENST00000331581	ensembl	human	novel	74_37	nonsense	59.38	13	19	SNP	1.000	C
CAMSAP1	157922	genome.wustl.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.T477fs	ENST00000389532.4	37	c.1430_1429	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2		0.00	37	0	-	XM_351857		138715800	-1	tier1		no_errors	ENST00000409386	ensembl	human	known	74_37	frame_shift_ins	7.27	51	4	INS	0.022:0.003	T
CAPNS2	84290	genome.wustl.edu	37	16	55600896	55600896	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:55600896G>T	ENST00000457326.2	+	1	313	c.228G>T	c.(226-228)gaG>gaT	p.E76D	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	76					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CAGAAAGTGAGGAAGTTAGGC	0.483																																																	0													75.0	76.0	76.0					16																	55600896		1978	4175	6153	SO:0001583	missense	0			AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.228G>T	16.37:g.55600896G>T	ENSP00000400882:p.Glu76Asp		Q9BPV4	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.E76D	ENST00000457326.2	37	c.228	CCDS54010.1	16	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729768	0.30684	.	.	ENSG00000256812	ENST00000457326	T	0.55588	0.51	5.98	0.387	0.16259	EF-hand-like domain (1);	.	.	.	.	T	0.24851	0.0603	N	0.12961	0.28	0.27944	N	0.937391	B	0.02656	0.0	B	0.04013	0.001	T	0.21759	-1.0236	9	0.07990	T	0.79	.	1.7095	0.02889	0.1799:0.2059:0.4034:0.2108	.	76	Q96L46	CPNS2_HUMAN	D	76	ENSP00000400882:E76D	ENSP00000400882:E76D	E	+	3	2	CAPNS2	54158397	0.974000	0.33945	0.998000	0.56505	0.998000	0.95712	0.030000	0.13688	0.122000	0.18314	0.650000	0.86243	GAG	CAPNS2	-	NULL	ENSG00000256812		0.483	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS2	HGNC	protein_coding	OTTHUMT00000396391.1		0.00	52	0	G	NM_032330		55600896	+1			no_errors	ENST00000457326	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.992	T
CCDC144A	9720	genome.wustl.edu	37	17	16638500	16638500	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:16638500T>C	ENST00000360524.8	+	12	2991	c.2915T>C	c.(2914-2916)cTt>cCt	p.L972P	CCDC144A_ENST00000443444.2_Missense_Mutation_p.L972P|CCDC144A_ENST00000456009.1_Missense_Mutation_p.L692P|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L972P|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L972P	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	972																	TCTGAAAAACTTTCTAATGCT	0.373																																																	0													2.0	1.0	2.0					17																	16638500		1262	2681	3943	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2915T>C	17.37:g.16638500T>C	ENSP00000353717:p.Leu972Pro		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.L972P	ENST00000360524.8	37	c.2915	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.10|11.10	1.538810|1.538810	0.27475|0.27475	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	2.08|2.08	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	T|T	0.46288|0.46288	0.1385|0.1385	L|L	0.60455|0.60455	1.87|1.87	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.41928|0.41928	-0.9481|-0.9481	5|9	.|0.87932	.|D	.|0	.|.	7.774|7.774	0.29026|0.29026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|692;972	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	L|P	456|972;972;972;692	.|ENSP00000382215:L972P;ENSP00000439262:L972P;ENSP00000353717:L972P;ENSP00000394201:L692P	.|ENSP00000353717:L972P	F|L	+|+	1|2	0|0	CCDC144A|CCDC144A	16579225|16579225	0.998000|0.998000	0.40836|0.40836	0.684000|0.684000	0.30055|0.30055	0.261000|0.261000	0.26267|0.26267	3.998000|3.998000	0.57024|0.57024	0.952000|0.952000	0.37798|0.37798	0.324000|0.324000	0.21423|0.21423	TTT|CTT	CCDC144A	-	NULL	ENSG00000170160		0.373	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0.00	27	0	T			16638500	+1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	C
CCDC144CP	348254	genome.wustl.edu	37	17	20245922	20245922	+	RNA	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:20245922A>G	ENST00000583626.1	+	0	301									RNA, 7SL, cytoplasmic 17, pseudogene																		caggagttcaagaccagcctg	0.488																																																	0																																												0					17p11.2	2013-04-02			ENSG00000266339			"""ncRNAs / Small cytoplasmic RNAs"""	46033	pseudogene	RNA, pseudogene							Standard			Approved						17.37:g.20245922A>G				RNA	SNP	-	NULL	ENST00000583626.1	37	NULL		17																																																																																			CCDC144CP	-	-	ENSG00000154898		0.488	RN7SL17P-201	KNOWN	basic	misc_RNA	CCDC144CP	HGNC	misc_RNA		-	0.00	45	0	A			20245922	+1	tier1	-	no_errors	ENST00000580574	ensembl	human	known	74_37	rna	83.87	5	26	SNP	0.014	G
CCDC37	348807	genome.wustl.edu	37	3	126138544	126138544	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:126138544C>T	ENST00000352312.1	+	9	895	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	CCDC37_ENST00000505024.1_Silent_p.L267L|CCDC37_ENST00000393425.1_Silent_p.L267L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	266										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCTATACAAGCTGTCGCCCAA	0.488																																																	0													75.0	77.0	76.0					3																	126138544		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.796C>T	3.37:g.126138544C>T			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C	p.L267	ENST00000352312.1	37	c.799	CCDS3037.1	3																																																																																			CCDC37	-	NULL	ENSG00000163885		0.488	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4		0.00	32	0	C	NM_182628		126138544	+1			no_errors	ENST00000393425	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T
CCDC88C	440193	genome.wustl.edu	37	14	91755659	91755659	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:91755659A>C	ENST00000389857.6	-	25	4317	c.4231T>G	c.(4231-4233)Tta>Gta	p.L1411V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1411					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGTTTGACTAAGGCTTTGGCT	0.547																																																	0													227.0	236.0	233.0					14																	91755659		1957	4145	6102	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4231T>G	14.37:g.91755659A>C	ENSP00000374507:p.Leu1411Val		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.L1411V	ENST00000389857.6	37	c.4231	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493571	0.64186	.	.	ENSG00000015133	ENST00000389857	T	0.66638	-0.22	5.25	2.93	0.34026	.	0.194901	0.25052	U	0.033520	T	0.60379	0.2264	M	0.67953	2.075	0.80722	D	1	P	0.38582	0.638	B	0.35859	0.212	T	0.57447	-0.7810	10	0.52906	T	0.07	-6.1868	8.6108	0.33801	0.8418:0.0:0.1582:0.0	.	1411	Q9P219	DAPLE_HUMAN	V	1411	ENSP00000374507:L1411V	ENSP00000374507:L1411V	L	-	1	2	CCDC88C	90825412	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.620000	0.46410	0.340000	0.23745	0.379000	0.24179	TTA	CCDC88C	-	NULL	ENSG00000015133		0.547	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0.00	67	0	A	XM_029353		91755659	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	C
CCNA1	8900	genome.wustl.edu	37	13	37011833	37011833	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:37011833T>A	ENST00000255465.4	+	3	629	c.365T>A	c.(364-366)cTc>cAc	p.L122H	CCNA1_ENST00000449823.1_Missense_Mutation_p.L78H|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.L121H|CCNA1_ENST00000440264.1_Missense_Mutation_p.L78H			P78396	CCNA1_HUMAN	cyclin A1	122					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAGAAAGCACTCCCTGACTGT	0.498																																																	0													87.0	94.0	91.0					13																	37011833		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.365T>A	13.37:g.37011833T>A	ENSP00000255465:p.Leu122His		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.L122H	ENST00000255465.4	37	c.365	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783524	0.31593	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.16743	2.36;2.36;2.32;2.32	5.25	2.58	0.30949	.	1.184240	0.05881	N	0.626519	T	0.23410	0.0566	L	0.53249	1.67	0.09310	N	1	P;P	0.44380	0.834;0.744	P;B	0.47102	0.537;0.336	T	0.17137	-1.0379	10	0.42905	T	0.14	.	5.4056	0.16320	0.0:0.1527:0.1482:0.6992	.	121;122	P78396-2;P78396	.;CCNA1_HUMAN	H	78;78;121;122	ENSP00000400666:L78H;ENSP00000409873:L78H;ENSP00000396479:L121H;ENSP00000255465:L122H	ENSP00000255465:L122H	L	+	2	0	CCNA1	35909833	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	0.628000	0.24522	0.798000	0.33994	0.379000	0.24179	CTC	CCNA1	-	pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.498	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0.00	36	0	T	NM_003914		37011833	+1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	50.88	27	29	SNP	0.000	A
CDK13	8621	genome.wustl.edu	37	7	40027266	40027266	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:40027266G>T	ENST00000181839.4	+	2	1885	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	CDK13_ENST00000340829.5_Missense_Mutation_p.R427I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	427					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGCAGGCACAGATTGTCTAGA	0.413																																																	0													87.0	83.0	84.0					7																	40027266		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1280G>T	7.37:g.40027266G>T	ENSP00000181839:p.Arg427Ile		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R427I	ENST00000181839.4	37	c.1280	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015323	0.75161	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.75367	-0.93;-0.93	5.95	5.95	0.96441	.	.	.	.	.	T	0.81336	0.4801	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.77848	-0.2435	8	.	.	.	-18.2455	20.3789	0.98926	0.0:0.0:1.0:0.0	.	427;427	Q14004-2;Q14004	.;CDK13_HUMAN	I	427	ENSP00000181839:R427I;ENSP00000340557:R427I	.	R	+	2	0	CDK13	39993791	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.552000	0.90682	2.826000	0.97356	0.563000	0.77884	AGA	CDK13	-	NULL	ENSG00000065883		0.413	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0.00	42	0	G	NM_003718		40027266	+1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
CELF4	56853	genome.wustl.edu	37	18	35145420	35145420	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:35145420G>A	ENST00000591282.1	-	1	184	c.185C>T	c.(184-186)cCc>cTc	p.P62L	CELF4_ENST00000591287.1_Missense_Mutation_p.P62L|CELF4_ENST00000588597.1_Missense_Mutation_p.P62L|CELF4_ENST00000603232.1_Missense_Mutation_p.P62L|CELF4_ENST00000334919.5_Missense_Mutation_p.P62L|CELF4_ENST00000420428.2_Missense_Mutation_p.P62L|CELF4_ENST00000412753.1_Missense_Mutation_p.P62L|CELF4_ENST00000361795.5_Missense_Mutation_p.P62L|CELF4_ENST00000601019.1_Missense_Mutation_p.P62L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGGTTGCGGGGGATCTGCCC	0.552																																																	0													123.0	110.0	114.0					18																	35145420		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.185C>T	18.37:g.35145420G>A	ENSP00000464794:p.Pro62Leu		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P62L	ENST00000591282.1	37	c.185	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278801	0.80692	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.73	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.128961	0.52532	D	0.000072	T	0.75398	0.3844	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81671	-0.0827	10	0.87932	D	0	-6.7863	18.6143	0.91296	0.0:0.0:1.0:0.0	.	62;62;62;62;62	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	L	62	ENSP00000355089:P62L;ENSP00000406823:P62L;ENSP00000410584:P62L;ENSP00000335631:P62L	ENSP00000335631:P62L	P	-	2	0	CELF4	33399418	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.792000	0.99085	2.548000	0.85928	0.650000	0.86243	CCC	CELF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000101489		0.552	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	-	0.00	65	0	G	NM_020180		35145420	-1	tier1	-	no_errors	ENST00000420428	ensembl	human	known	74_37	missense	9.09	70	7	SNP	1.000	A
CERK	64781	genome.wustl.edu	37	22	47108089	47108089	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:47108089C>A	ENST00000216264.8	-	4	593	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	161	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGATGGAGGCTAAGGTGAAC	0.403																																																	0													272.0	205.0	228.0					22																	47108089		2203	4300	6503	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.481G>T	22.37:g.47108089C>A	ENSP00000216264:p.Ala161Ser		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.A161S	ENST00000216264.8	37	c.481	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591628	0.66219	.	.	ENSG00000100422	ENST00000216264	T	0.25749	1.78	5.2	5.2	0.72013	Diacylglycerol kinase, catalytic domain (3);	0.052679	0.85682	D	0.000000	T	0.53594	0.1806	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54984	-0.8211	10	0.44086	T	0.13	-18.6068	16.2254	0.82286	0.0:1.0:0.0:0.0	.	161	Q8TCT0	CERK1_HUMAN	S	161	ENSP00000216264:A161S	ENSP00000216264:A161S	A	-	1	0	CERK	45486753	1.000000	0.71417	0.879000	0.34478	0.142000	0.21351	6.700000	0.74619	2.415000	0.81967	0.563000	0.77884	GCC	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.403	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	-	0.00	129	0	C	NM_022766		47108089	-1	tier1	-	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	12.40	106	15	SNP	0.994	A
CFH	3075	genome.wustl.edu	37	1	196643018	196643018	+	Silent	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:196643018T>A	ENST00000359637.2	+	3	338	c.276T>A	c.(274-276)ccT>ccA	p.P92P	CFH_ENST00000367429.4_Silent_p.P92P|CFH_ENST00000439155.2_Silent_p.P92P			P08603	CFAH_HUMAN	complement factor H	156	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGATACTCCTTTTGGTACTT	0.368																																																	0													154.0	161.0	158.0					1																	196643018		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.276T>A	1.37:g.196643018T>A			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P92	ENST00000359637.2	37	c.276		1																																																																																			CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.368	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0.00	70	0	T	NM_000186		196643018	+1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	26.92	57	21	SNP	0.014	A
CHST13	166012	genome.wustl.edu	37	3	126260888	126260888	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:126260888C>T	ENST00000319340.2	+	3	543	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	165					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCGGCGCCTGCGCGCCTACTT	0.726																																																	0													8.0	10.0	9.0					3																	126260888		2127	4182	6309	SO:0001583	missense	0			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.493C>T	3.37:g.126260888C>T	ENSP00000317404:p.Arg165Cys		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R165C	ENST00000319340.2	37	c.493	CCDS3039.1	3	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302328	0.40694	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.74632	-0.86	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87067	0.2157	10	0.87932	D	0	-15.1307	10.4556	0.44548	0.1947:0.8053:0.0:0.0	.	165	Q8NET6	CHSTD_HUMAN	C	165	ENSP00000317404:R165C	ENSP00000317404:R165C	R	+	1	0	CHST13	127743578	1.000000	0.71417	0.967000	0.41034	0.092000	0.18411	1.767000	0.38501	2.169000	0.68431	0.491000	0.48974	CGC	CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.726	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	-	0.00	18	0	C	NM_152889		126260888	+1	tier1	-	no_errors	ENST00000319340	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.864	T
CHST15	51363	genome.wustl.edu	37	10	125801922	125801922	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:125801922C>T	ENST00000346248.5	-	4	1570	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CHST15_ENST00000435907.1_Missense_Mutation_p.V310M|CHST15_ENST00000421115.1_Missense_Mutation_p.V310M	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TAATCTTCCACGGGATAGCGG	0.522																																																	0													115.0	100.0	105.0					10																	125801922		2203	4300	6503	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.928G>A	10.37:g.125801922C>T	ENSP00000333947:p.Val310Met		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V310M	ENST00000346248.5	37	c.928	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944445	0.73672	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56444	0.46;0.46;0.46	5.72	5.72	0.89469	Sulfotransferase domain (1);	0.062848	0.64402	D	0.000005	T	0.59783	0.2219	L	0.46157	1.445	0.40190	D	0.977394	D;D	0.64830	0.994;0.993	P;P	0.50934	0.654;0.64	T	0.63229	-0.6684	10	0.72032	D	0.01	-37.6261	19.8965	0.96963	0.0:1.0:0.0:0.0	.	310;310	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	M	310	ENSP00000333947:V310M;ENSP00000402394:V310M;ENSP00000412477:V310M	ENSP00000333947:V310M	V	-	1	0	CHST15	125791912	0.996000	0.38824	0.991000	0.47740	0.823000	0.46562	3.395000	0.52558	2.717000	0.92951	0.655000	0.94253	GTG	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.522	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1		0.00	48	0	C	NM_015892		125801922	-1			no_errors	ENST00000346248	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.994	T
CLASP2	23122	genome.wustl.edu	37	3	33584956	33584956	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:33584956T>A	ENST00000468888.2	-	32	3443	c.3397A>T	c.(3397-3399)Acc>Tcc	p.T1133S	CLASP2_ENST00000359576.5_Missense_Mutation_p.T1124S|CLASP2_ENST00000539981.1_Missense_Mutation_p.T902S|CLASP2_ENST00000461133.3_Missense_Mutation_p.T892S|CLASP2_ENST00000399362.4_Missense_Mutation_p.T1132S|CLASP2_ENST00000307312.7_Missense_Mutation_p.T614S|CLASP2_ENST00000480013.1_Missense_Mutation_p.T912S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	913	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GATGTATTGGTAGGAGAAGTA	0.388																																																	0													150.0	147.0	148.0					3																	33584956		1875	4114	5989	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3397A>T	3.37:g.33584956T>A	ENSP00000419974:p.Thr1133Ser		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T1132S	ENST00000468888.2	37	c.3394		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.919857|4.919857	0.92249|0.92249	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	T;T;T|.	0.19669|.	2.16;2.15;2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50514|0.50514	0.1620|0.1620	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.76494|.	0.999;0.998;0.598|.	D;D;B|.	0.76071|.	0.986;0.987;0.341|.	T|T	0.47898|0.47898	-0.9081|-0.9081	10|5	0.07644|.	T|.	0.81|.	-16.1308|-16.1308	14.588|14.588	0.68342|0.68342	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	913;1124;1132|.	O75122;F5H604;E7ERI8|.	CLAP2_HUMAN;.;.|.	S|F	1133;1132;1124;614;902;912;892|188	ENSP00000419974:T1133S;ENSP00000382297:T1132S;ENSP00000352581:T1124S|.	ENSP00000304743:T614S|.	T|Y	-|-	1|2	0|0	CLASP2|CLASP2	33559960|33559960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.717000|7.717000	0.84732|0.84732	2.178000|2.178000	0.69098|0.69098	0.477000|0.477000	0.44152|0.44152	ACC|TAC	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.388	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	-	0.00	46	0	T	NM_001207044		33584956	-1	tier1	-	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	A
CLCNKB	1188	genome.wustl.edu	37	1	16382972	16382972	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:16382972G>A	ENST00000375679.4	+	19	2096	c.1985G>A	c.(1984-1986)gGc>gAc	p.G662D	CLCNKB_ENST00000375667.3_Missense_Mutation_p.G492D|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	662	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCGGGGCAGAGCTGTG	0.597											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186.0	167.0	174.0					1																	16382972		2203	4300	6503	SO:0001583	missense	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1985G>A	1.37:g.16382972G>A	ENSP00000364831:p.Gly662Asp	709	B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.G662D	ENST00000375679.4	37	c.1985	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306622	0.60305	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.91577	-2.87;-2.87	4.85	4.85	0.62838	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.91768	3.24	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96927	0.9678	10	0.87932	D	0	.	14.6631	0.68888	0.0:0.0:1.0:0.0	.	492;662	Q5T5Q7;P51801	.;CLCKB_HUMAN	D	662;492	ENSP00000364831:G662D;ENSP00000364819:G492D	ENSP00000364819:G492D	G	+	2	0	CLCNKB	16255559	1.000000	0.71417	0.999000	0.59377	0.224000	0.24922	5.555000	0.67301	2.260000	0.74910	0.555000	0.69702	GGC	CLCNKB	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000184908		0.597	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	-	0.00	109	0	G	NM_000085		16382972	+1	tier1	-	no_errors	ENST00000375679	ensembl	human	known	74_37	missense	20.63	100	26	SNP	0.998	A
CLDN16	10686	genome.wustl.edu	37	3	190105961	190105961	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:190105961G>T	ENST00000264734.2	+	1	301	c.53G>T	c.(52-54)tGc>tTc	p.C18F	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.C18F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	18					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TATTCTTACTGCAACTCAAGA	0.488																																																	0													46.0	43.0	44.0					3																	190105961		2203	4300	6503	SO:0001583	missense	0			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.53G>T	3.37:g.190105961G>T	ENSP00000264734:p.Cys18Phe			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.C18F	ENST00000264734.2	37	c.53	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.015132	0.00422	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93488	-2.86;-3.23	5.71	-1.45	0.08828	.	2.526800	0.01288	N	0.009940	D	0.85080	0.5615	N	0.08118	0	0.09310	N	1	B;B	0.16802	0.019;0.003	B;B	0.17722	0.019;0.004	T	0.74842	-0.3527	10	0.48119	T	0.1	11.6584	5.7581	0.18184	0.5309:0.143:0.3261:0.0	.	18;18	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	F	18	ENSP00000264734:C18F;ENSP00000414136:C18F	ENSP00000264734:C18F	C	+	2	0	CLDN16	191588655	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.328000	0.19681	-0.664000	0.05324	-0.312000	0.09012	TGC	CLDN16	-	NULL	ENSG00000113946		0.488	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1		0.00	38	0	G	NM_006580		190105961	+1			no_errors	ENST00000264734	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T
CNR1	1268	genome.wustl.edu	37	6	88854515	88854515	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:88854515G>A	ENST00000537554.1	-	2	4041	c.479C>T	c.(478-480)gCg>gTg	p.A160V	CNR1_ENST00000369499.2_Missense_Mutation_p.A160V|CNR1_ENST00000535130.1_Missense_Mutation_p.A160V|CNR1_ENST00000369501.2_Missense_Mutation_p.A160V|CNR1_ENST00000468898.1_Missense_Mutation_p.A127V|CNR1_ENST00000549890.1_Missense_Mutation_p.A160V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.A160V|CNR1_ENST00000549716.1_Missense_Mutation_p.A99V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	160					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GTCTGCCACCGCCAGGCTGCC	0.577																																																	0													30.0	32.0	31.0					6																	88854515		2203	4300	6503	SO:0001583	missense	0			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.479C>T	6.37:g.88854515G>A	ENSP00000441046:p.Ala160Val		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.A160V	ENST00000537554.1	37	c.479	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606305	0.87157	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.83639	0.0149	10	0.87932	D	0	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	127;160	P21554-3;P21554	.;CNR1_HUMAN	V	160;160;160;160;160;127;160;99	ENSP00000358513:A160V;ENSP00000442689:A160V;ENSP00000441046:A160V;ENSP00000358511:A160V;ENSP00000446819:A160V;ENSP00000420188:A127V;ENSP00000412192:A160V;ENSP00000449549:A99V	ENSP00000358511:A160V	A	-	2	0	CNR1	88911234	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.869000	0.99810	2.732000	0.93576	0.563000	0.77884	GCG	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000118432		0.577	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0.00	26	0	G			88854515	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A
COL4A5	1287	genome.wustl.edu	37	X	107858207	107858207	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:107858207A>G	ENST00000361603.2	+	30	2706	c.2462A>G	c.(2461-2463)cAg>cGg	p.Q821R	COL4A5_ENST00000328300.6_Missense_Mutation_p.Q821R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	821	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATAGGTGTTCAGGGACCACCA	0.418									Alport syndrome with Diffuse Leiomyomatosis																																								0													75.0	67.0	70.0					X																	107858207		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2462A>G	X.37:g.107858207A>G	ENSP00000354505:p.Gln821Arg		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q821R	ENST00000361603.2	37	c.2462	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194064	0.38707	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93488	-3.23;-3.18	4.51	4.51	0.55191	.	0.331703	0.29225	N	0.012773	D	0.91922	0.7442	N	0.13272	0.32	0.39313	D	0.965111	D;D;D	0.63046	0.982;0.992;0.982	P;P;P	0.62491	0.762;0.903;0.762	D	0.93059	0.6472	10	0.52906	T	0.07	.	13.2391	0.59987	1.0:0.0:0.0:0.0	.	821;429;821	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	R	821	ENSP00000331902:Q821R;ENSP00000354505:Q821R	ENSP00000331902:Q821R	Q	+	2	0	COL4A5	107744863	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.736000	0.55052	1.737000	0.51674	0.345000	0.21793	CAG	COL4A5	-	pfam_Collagen	ENSG00000188153		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0.00	24	0	A			107858207	+1			no_errors	ENST00000328300	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G
COL5A1	1289	genome.wustl.edu	37	9	137623929	137623929	+	Missense_Mutation	SNP	C	C	T	rs374020067		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:137623929C>T	ENST00000371817.3	+	9	1759	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	449	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGAGGACCTCGGGGCGAGAA	0.532																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	101.0	104.0		1345	3.6	0.6	9		104	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	449/1839	137623929	1,13005	2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1345C>T	9.37:g.137623929C>T	ENSP00000360882:p.Arg449Trp		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R449W	ENST00000371817.3	37	c.1345	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894743	0.33442	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.97041	-4.22	4.53	3.62	0.41486	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	L	0.54323	1.7	0.47698	D	0.999497	D	0.76494	0.999	P	0.57620	0.824	D	0.95270	0.8376	10	0.41790	T	0.15	.	11.0831	0.48072	0.3361:0.6639:0.0:0.0	.	449	P20908	CO5A1_HUMAN	W	449	ENSP00000360882:R449W	ENSP00000360882:R449W	R	+	1	2	COL5A1	136763750	0.998000	0.40836	0.616000	0.29078	0.526000	0.34562	3.932000	0.56537	0.859000	0.35456	0.462000	0.41574	CGG	COL5A1	-	NULL	ENSG00000130635		0.532	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	91	0	C	NM_000093		137623929	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	10.67	67	8	SNP	0.853	T
COL5A1	1289	genome.wustl.edu	37	9	137697036	137697036	+	Silent	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:137697036G>C	ENST00000371817.3	+	41	3648	c.3234G>C	c.(3232-3234)ggG>ggC	p.G1078G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1078	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCAATGAAGGGCCCCCTGGCC	0.597																																																	0													91.0	92.0	92.0					9																	137697036		2203	4300	6503	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3234G>C	9.37:g.137697036G>C			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1078	ENST00000371817.3	37	c.3234	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	38	0	G	NM_000093		137697036	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.536	C
COPA	1314	genome.wustl.edu	37	1	160281732	160281732	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:160281732G>T	ENST00000241704.7	-	11	1231	c.1002C>A	c.(1000-1002)caC>caA	p.H334Q	COPA_ENST00000368069.3_Missense_Mutation_p.H334Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	334					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTGACATAGTGTAGCATAT	0.498																																																	0													145.0	115.0	125.0					1																	160281732		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1002C>A	1.37:g.160281732G>T	ENSP00000241704:p.His334Gln		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H334Q	ENST00000241704.7	37	c.1002	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585130	0.46110	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60920	2.59;0.15	4.96	2.29	0.28610	.	0.060944	0.64402	D	0.000002	T	0.23965	0.0580	N	0.14661	0.345	0.39325	D	0.965314	B;B	0.20459	0.024;0.045	B;B	0.29862	0.044;0.108	T	0.14587	-1.0467	10	0.87932	D	0	-15.3921	8.7492	0.34605	0.8014:0.0:0.1986:0.0	.	334;334	P53621;P53621-2	COPA_HUMAN;.	Q	334	ENSP00000357048:H334Q;ENSP00000241704:H334Q	ENSP00000241704:H334Q	H	-	3	2	COPA	158548356	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.898000	0.39809	0.739000	0.32628	-0.302000	0.09304	CAC	COPA	-	pirsf_Coatomer_asu	ENSG00000122218		0.498	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0.00	52	0	G	NM_004371		160281732	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
COPS6	10980	genome.wustl.edu	37	7	99688230	99688230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:99688230G>T	ENST00000303904.3	+	5	476	c.439G>T	c.(439-441)Gag>Tag	p.E147*	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Nonsense_Mutation_p.E146*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	147	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGAGATCATCGAGAGCCCCCT	0.498																																																	0													145.0	133.0	137.0					7																	99688230		2203	4300	6503	SO:0001587	stop_gained	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.439G>T	7.37:g.99688230G>T	ENSP00000304102:p.Glu147*		A4D2A3|O15387	Nonsense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.E147*	ENST00000303904.3	37	c.439	CCDS5682.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965443	0.74131	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	.	.	.	5.38	4.5	0.54988	.	0.117119	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-16.2898	12.077	0.53649	0.0826:0.0:0.9174:0.0	.	.	.	.	X	147;146	.	ENSP00000304102:E147X	E	+	1	0	COPS6	99526166	1.000000	0.71417	0.933000	0.37362	0.982000	0.71751	4.130000	0.57964	1.500000	0.48636	0.655000	0.94253	GAG	COPS6	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000168090		0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3		0.00	70	0	G	NM_006833		99688230	+1			no_errors	ENST00000303904	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.998	T
CPS1	1373	genome.wustl.edu	37	2	211525224	211525224	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:211525224T>A	ENST00000233072.5	+	32	3968	c.3772T>A	c.(3772-3774)Ttg>Atg	p.L1258M	CPS1_ENST00000451903.2_Missense_Mutation_p.L807M|CPS1_ENST00000430249.2_Missense_Mutation_p.L1264M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1258	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGAGTGTAACTTGAGAGCTTC	0.403																																																	0													257.0	238.0	244.0					2																	211525224		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3772T>A	2.37:g.211525224T>A	ENSP00000233072:p.Leu1258Met		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L1264M	ENST00000233072.5	37	c.3790	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594004	0.66219	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97328	-4.34;-4.34;-4.34	5.98	-1.13	0.09775	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.93854	3.465	0.39491	D	0.968058	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.98931	1.0787	10	0.87932	D	0	-5.6959	12.7021	0.57038	0.0:0.4643:0.0:0.5357	.	1268;1258	Q59HF8;P31327	.;CPSM_HUMAN	M	1264;1266;1258;807	ENSP00000402608:L1264M;ENSP00000233072:L1258M;ENSP00000406136:L807M	ENSP00000233072:L1258M	L	+	1	2	CPS1	211233469	0.998000	0.40836	0.992000	0.48379	0.952000	0.60782	0.625000	0.24477	-0.119000	0.11830	-0.242000	0.12053	TTG	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0.00	32	0	T			211525224	+1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.980	A
CTAGE1	64693	genome.wustl.edu	37	18	19996550	19996550	+	5'Flank	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:19996550T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.K409*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCAAATTCTTTAAGATCTTTG	0.383																																																	0													78.0	87.0	84.0					18																	19996550		2140	4276	6416	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996550T>A	Exception_encountered		B0YIZ3	Nonsense_Mutation	SNP	NULL	p.K409*	ENST00000525417.1	37	c.1225		18	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410734	0.83340	.	.	ENSG00000212710	ENST00000391403	.	.	.	1.09	0.0883	0.14454	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5115	0.07709	0.0:0.7042:0.0:0.2958	.	.	.	.	X	409	.	.	K	-	1	0	CTAGE1	18250548	0.422000	0.25473	0.989000	0.46669	0.154000	0.21943	-0.564000	0.05936	0.024000	0.15214	-0.377000	0.06932	AAA	CTAGE1	-	NULL	ENSG00000212710		0.383	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	-	0.00	148	0	T	NM_022663, NM_172241		19996550	-1	tier1	-	no_errors	ENST00000391403	ensembl	human	known	74_37	nonsense	26.67	99	36	SNP	0.995	A
CTSD	1509	genome.wustl.edu	37	11	1782688	1782688	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:1782688G>A	ENST00000236671.2	-	2	211	c.79C>T	c.(79-81)Cac>Tac	p.H27Y	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA|AC068580.5_ENST00000446489.1_RNA|AC068580.1_ENST00000580120.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGAACTTGTGCAGCGGGATC	0.662																																																	0													45.0	44.0	44.0					11																	1782688		2201	4299	6500	SO:0001583	missense	0			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.79C>T	11.37:g.1782688G>A	ENSP00000236671:p.His27Tyr		Q6IB57	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.H27Y	ENST00000236671.2	37	c.79	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	g	4.809	0.150369	0.09185	.	.	ENSG00000117984	ENST00000236671;ENST00000438213	T;T	0.50548	0.74;0.74	3.82	-1.8	0.07907	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.698021	0.13579	N	0.377466	T	0.26159	0.0638	L	0.27053	0.805	0.23381	N	0.997799	B	0.20550	0.046	B	0.22152	0.038	T	0.19811	-1.0294	10	0.18276	T	0.48	.	4.2012	0.10467	0.2628:0.0:0.2378:0.4993	.	27	P07339	CATD_HUMAN	Y	27;12	ENSP00000236671:H27Y;ENSP00000415036:H12Y	ENSP00000236671:H27Y	H	-	1	0	CTSD	1739264	0.996000	0.38824	0.350000	0.25708	0.033000	0.12548	0.851000	0.27751	-0.489000	0.06716	-0.258000	0.10820	CAC	CTSD	-	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom	ENSG00000117984		0.662	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	-	0.00	112	0	G	NM_001909		1782688	-1	tier1	-	no_errors	ENST00000236671	ensembl	human	known	74_37	missense	6.15	60	4	SNP	0.992	A
CTSL3P	392360	genome.wustl.edu	37	9	90388134	90388134	+	RNA	SNP	G	G	T	rs375571465		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:90388134G>T	ENST00000354530.2	+	0	205					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										GAGAGAGAAAGGCTACGTGAC	0.502																																																	0													73.0	65.0	68.0					9																	90388134		2203	4300	6503			0			AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388134G>T				RNA	SNP	-	NULL	ENST00000354530.2	37	NULL		9																																																																																			CTSL3P	-	-	ENSG00000188029		0.502	CTSL3P-002	KNOWN	basic	processed_transcript	CTSL3P	HGNC	pseudogene	OTTHUMT00000356542.1	-	0.00	114	0	G	NR_027917		90388134	+1	tier1	-	no_errors	ENST00000354530	ensembl	human	known	74_37	rna	12.50	91	13	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43164484	43164484	+	Missense_Mutation	SNP	C	C	T	rs142672693	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:43164484C>T	ENST00000252050.4	+	11	2771	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	CUL9_ENST00000372647.2_Missense_Mutation_p.T896M|CUL9_ENST00000354495.3_Missense_Mutation_p.T786M	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	896					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	200.0	169.0	180.0		2687	4.7	1.0	6	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUL9	NM_015089.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	896/2518	43164484	2,13004	2203	4300	6503	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2687C>T	6.37:g.43164484C>T	ENSP00000252050:p.Thr896Met		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.T896M	ENST00000252050.4	37	c.2687	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658335	0.67586	2.27E-4	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.74;-0.74;-0.63	5.61	4.69	0.59074	Armadillo-type fold (1);	0.319960	0.31834	N	0.006994	T	0.60534	0.2276	N	0.22421	0.69	0.33542	D	0.594961	D;D;D	0.71674	0.998;0.99;0.99	P;P;P	0.55615	0.78;0.469;0.469	T	0.61983	-0.6950	10	0.33940	T	0.23	-24.433	10.9826	0.47504	0.186:0.814:0.0:0.0	.	786;896;896	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	M	896;786;896	ENSP00000252050:T896M;ENSP00000346490:T786M;ENSP00000361730:T896M	ENSP00000252050:T896M	T	+	2	0	CUL9	43272462	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	2.175000	0.42491	2.656000	0.90262	0.655000	0.94253	ACG	CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0.00	45	0	C	NM_015089		43164484	+1			no_errors	ENST00000252050	ensembl	human	known	74_37	missense	5.13	36	2	SNP	1.000	T
CWH43	80157	genome.wustl.edu	37	4	48996726	48996726	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:48996726C>A	ENST00000226432.4	+	5	785	c.602C>A	c.(601-603)gCt>gAt	p.A201D	CWH43_ENST00000513409.1_Missense_Mutation_p.A174D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	201					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCAGGGGCTGCTTTTGGTAGC	0.527																																																	0													97.0	97.0	97.0					4																	48996726		2203	4300	6503	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.602C>A	4.37:g.48996726C>A	ENSP00000226432:p.Ala201Asp		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.A201D	ENST00000226432.4	37	c.602	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346166	0.61073	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.49720	1.36;0.77	4.71	4.71	0.59529	.	0.124891	0.35349	N	0.003273	T	0.64951	0.2645	M	0.65975	2.015	0.44899	D	0.997919	D	0.76494	0.999	D	0.66351	0.943	T	0.64618	-0.6365	9	.	.	.	.	16.3714	0.83364	0.0:1.0:0.0:0.0	.	201	Q9H720	PG2IP_HUMAN	D	201;174	ENSP00000226432:A201D;ENSP00000422802:A174D	.	A	+	2	0	CWH43	48691483	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	4.546000	0.60705	2.587000	0.87381	0.591000	0.81541	GCT	CWH43	-	NULL	ENSG00000109182		0.527	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0.00	82	0	C	NM_025087		48996726	+1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	80.52	15	62	SNP	1.000	A
DAOA	267012	genome.wustl.edu	37	13	106142176	106142176	+	Intron	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:106142176G>T	ENST00000375936.3	+	4	327				DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Intron	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator						negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					catgggaaaggtgatgacact	0.483																																																	0													151.0	147.0	148.0					13																	106142176		692	1591	2283	SO:0001627	intron_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.282-74G>T	13.37:g.106142176G>T			A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	NULL	p.V42L	ENST00000375936.3	37	c.124	CCDS41905.1	13																																																																																			DAOA	-	NULL	ENSG00000182346		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	-	0.00	36	0	G	NM_172370		106142176	+1	tier1	-	no_errors	ENST00000595812	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.000	T
DCAF12L1	139170	genome.wustl.edu	37	X	125685850	125685850	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:125685850T>C	ENST00000371126.1	-	1	984	c.742A>G	c.(742-744)Agg>Ggg	p.R248G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	248										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCACATCCCTCGGACGGATG	0.647																																																	0													39.0	39.0	39.0					X																	125685850		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.742A>G	X.37:g.125685850T>C	ENSP00000360167:p.Arg248Gly		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R248G	ENST00000371126.1	37	c.742	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	3.422	-0.117965	0.06838	.	.	ENSG00000198889	ENST00000371126	T	0.18338	2.22	3.82	1.4	0.22301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.792940	0.10729	N	0.640835	T	0.14570	0.0352	L	0.53249	1.67	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.33701	-0.9858	10	0.26408	T	0.33	.	4.943	0.13975	0.0:0.2614:0.0:0.7386	.	248	Q5VU92	DC121_HUMAN	G	248	ENSP00000360167:R248G	ENSP00000360167:R248G	R	-	1	2	DCAF12L1	125513531	0.517000	0.26226	0.000000	0.03702	0.009000	0.06853	1.745000	0.38278	0.191000	0.20236	0.347000	0.21830	AGG	DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.647	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0.00	72	0	T	NM_178470		125685850	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	90.70	4	39	SNP	0.000	C
DCLK1	9201	genome.wustl.edu	37	13	36521533	36521533	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:36521533T>G	ENST00000360631.3	-	4	996	c.785A>C	c.(784-786)aAg>aCg	p.K262T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K262T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K262T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	262	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAACGGAACTTCTCCGGTCC	0.423																																																	0													113.0	102.0	106.0					13																	36521533		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.785A>C	13.37:g.36521533T>G	ENSP00000353846:p.Lys262Thr		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.K262T	ENST00000360631.3	37	c.785		13	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077980	0.76528	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.92495	-3.05;-3.05;-3.05	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96402	0.8826	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.97019	0.9742	10	0.87932	D	0	.	16.1477	0.81583	0.0:0.0:0.0:1.0	.	262	O15075-2	.	T	262	ENSP00000255448:K262T;ENSP00000353846:K262T;ENSP00000369222:K262T	ENSP00000255448:K262T	K	-	2	0	DCLK1	35419533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.902000	0.75699	2.226000	0.72624	0.523000	0.50628	AAG	DCLK1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.423	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0.00	55	0	T	NM_004734		36521533	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
DDX50	79009	genome.wustl.edu	37	10	70696800	70696800	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:70696800C>T	ENST00000373585.3	+	12	1811	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	568						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						CTTTAGCCCACATTTCTGGTG	0.428																																																	0													120.0	118.0	119.0					10																	70696800		2203	4300	6503	SO:0001819	synonymous_variant	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.1704C>T	10.37:g.70696800C>T			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H568	ENST00000373585.3	37	c.1704	CCDS7283.1	10																																																																																			DDX50	-	NULL	ENSG00000107625		0.428	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0.00	42	0	C	NM_024045		70696800	+1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.999	T
DENND5B	160518	genome.wustl.edu	37	12	31632565	31632565	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:31632565T>G	ENST00000389082.5	-	3	1126	c.862A>C	c.(862-864)Acc>Ccc	p.T288P	DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Missense_Mutation_p.T310P|DENND5B_ENST00000536562.1_Missense_Mutation_p.T323P|DENND5B_ENST00000306833.6_Missense_Mutation_p.T323P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	288	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAACACAGGTAAACACCTGC	0.473																																																	0													22.0	20.0	20.0					12																	31632565		1823	4081	5904	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.862A>C	12.37:g.31632565T>G	ENSP00000373734:p.Thr288Pro		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.T323P	ENST00000389082.5	37	c.967	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247756	0.80024	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	4.56	4.56	0.56223	DENN (3);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.997;1.0;0.998;0.999	T	0.53092	-0.8487	10	0.66056	D	0.02	-20.5113	14.1051	0.65083	0.0:0.0:0.0:1.0	.	323;210;310;288;323	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	P	288;323;323;310;240	ENSP00000373734:T288P;ENSP00000306482:T323P;ENSP00000444889:T323P;ENSP00000346238:T310P;ENSP00000442938:T240P	ENSP00000306482:T323P	T	-	1	0	DENND5B	31523832	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	7.663000	0.83820	1.924000	0.55735	0.533000	0.62120	ACC	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000170456		0.473	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	-	0.00	27	0	T	NM_144973		31632565	-1	tier1	-	no_errors	ENST00000306833	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	G
DET1	55070	genome.wustl.edu	37	15	89070882	89070882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:89070882G>A	ENST00000268148.8	-	3	1364	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	DET1_ENST00000564406.1_Nonsense_Mutation_p.Q418*|DET1_ENST00000444300.1_Nonsense_Mutation_p.Q418*	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	407						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGGGAAACTGAACTTCACTG	0.438																																																	0													92.0	88.0	89.0					15																	89070882		1900	4124	6024	SO:0001587	stop_gained	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1219C>T	15.37:g.89070882G>A	ENSP00000268148:p.Gln407*		B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.Q418*	ENST00000268148.8	37	c.1252	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.833874	0.98516	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.1785	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	418;407	.	ENSP00000268148:Q407X	Q	-	1	0	DET1	86871886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.327000	0.96396	2.793000	0.96121	0.655000	0.94253	CAG	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.438	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	-	0.00	55	0	G	NM_017996		89070882	-1	tier1	-	no_errors	ENST00000444300	ensembl	human	known	74_37	nonsense	30.43	31	14	SNP	1.000	A
DGAT1	8694	genome.wustl.edu	37	8	145540826	145540827	+	Intron	DEL	CA	CA	-	rs201213845		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:145540826_145540827delCA	ENST00000332324.4	-	14	1434				GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1						acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGTTCCACATCACACACACACA	0.569																																																	0																																										SO:0001627	intron_variant	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1160+22TG>-	8.37:g.145540836_145540837delCA			B2RWQ2|D3DWL6|Q96BB8	RNA	DEL	-	NULL	ENST00000332324.4	37	NULL	CCDS6420.1	8																																																																																			DGAT1	-	-	ENSG00000185000		0.569	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3		0.00	39	0	CA	NM_012079		145540827	-1	tier1		no_errors	ENST00000527438	ensembl	human	putative	74_37	rna	8.70	42	4	DEL	0.000:0.001	-
DGKD	8527	genome.wustl.edu	37	2	234372820	234372820	+	Missense_Mutation	SNP	C	C	A	rs373084771		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:234372820C>A	ENST00000264057.2	+	27	3209	c.3197C>A	c.(3196-3198)cCg>cAg	p.P1066Q	DGKD_ENST00000409813.3_Missense_Mutation_p.P1022Q	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1066					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGCTGGATCCGCCTCAGAAG	0.672																																																	0													32.0	36.0	35.0					2																	234372820		2203	4299	6502	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3197C>A	2.37:g.234372820C>A	ENSP00000264057:p.Pro1066Gln		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P1066Q	ENST00000264057.2	37	c.3197	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628215	0.46944	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79352	-1.1;-1.26	4.96	4.08	0.47627	.	0.073886	0.56097	D	0.000038	T	0.79644	0.4481	M	0.67953	2.075	0.43814	D	0.996373	P;P	0.43938	0.822;0.76	P;B	0.46940	0.532;0.393	T	0.80730	-0.1252	10	0.48119	T	0.1	.	13.5323	0.61629	0.0:0.9252:0.0:0.0748	.	1022;1066	Q16760-2;Q16760	.;DGKD_HUMAN	Q	1066;1022	ENSP00000264057:P1066Q;ENSP00000386455:P1022Q	ENSP00000264057:P1066Q	P	+	2	0	DGKD	234037559	1.000000	0.71417	0.950000	0.38849	0.900000	0.52787	4.378000	0.59568	1.464000	0.47987	0.655000	0.94253	CCG	DGKD	-	NULL	ENSG00000077044		0.672	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2		0.00	22	0	C	NM_003648		234372820	+1			no_errors	ENST00000264057	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	A
DIP2A	23181	genome.wustl.edu	37	21	47986589	47986589	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:47986589G>A	ENST00000417564.2	+	37	4477	c.4456G>A	c.(4456-4458)Gct>Act	p.A1486T	DIP2A_ENST00000318711.7_Missense_Mutation_p.A1487T|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.A1482T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1486					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CAGGAGCATCGCTGAGTGGTA	0.587																																																	0													95.0	98.0	97.0					21																	47986589		2197	4300	6497	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4456G>A	21.37:g.47986589G>A	ENSP00000392066:p.Ala1486Thr		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A1487T	ENST00000417564.2	37	c.4459	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830762	0.71258	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.12361	2.69;2.69;2.69	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.12611	0.24	0.80722	D	1	D;B	0.55800	0.973;0.189	P;B	0.49361	0.608;0.053	T	0.03706	-1.1011	10	0.02654	T	1	-20.0949	18.425	0.90606	0.0:0.0:1.0:0.0	.	1487;1486	E9PER1;Q14689	.;DIP2A_HUMAN	T	1482;1487;1486	ENSP00000383133:A1482T;ENSP00000323633:A1487T;ENSP00000392066:A1486T	ENSP00000323633:A1487T	A	+	1	0	DIP2A	46811017	1.000000	0.71417	0.948000	0.38648	0.745000	0.42441	4.756000	0.62205	2.599000	0.87857	0.655000	0.94253	GCT	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1		0.00	39	0	G	NM_015151		47986589	+1			no_errors	ENST00000318711	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A
DLG2	1740	genome.wustl.edu	37	11	84245625	84245625	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:84245625A>C	ENST00000532653.1	-	2	494	c.192T>G	c.(190-192)atT>atG	p.I64M	DLG2_ENST00000376104.2_Missense_Mutation_p.I169M|DLG2_ENST00000398309.2_Missense_Mutation_p.I64M|DLG2_ENST00000543673.1_Missense_Mutation_p.I169M|DLG2_ENST00000524982.1_Missense_Mutation_p.I64M			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGAGGAGAAATATGAGACT	0.413																																																	0													159.0	151.0	153.0					11																	84245625		1880	4099	5979	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.192T>G	11.37:g.84245625A>C	ENSP00000435849:p.Ile64Met		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.I169M	ENST00000532653.1	37	c.507		11	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551319	0.65311	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.88	1.27	0.21489	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.52532	D	0.000080	T	0.63850	0.2546	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.62365	0.991;0.985;0.988;0.991	D;D;D;D	0.75484	0.986;0.924;0.977;0.986	T	0.60707	-0.7210	9	.	.	.	.	5.6365	0.17540	0.3973:0.0:0.4582:0.1446	.	64;64;169;64	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	M	64;169;169;64;64;169	ENSP00000381355:I64M;ENSP00000365272:I169M;ENSP00000441994:I169M;ENSP00000432894:I64M;ENSP00000435849:I64M	.	I	-	3	3	DLG2	83923273	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.417000	0.21214	0.554000	0.29061	0.533000	0.62120	ATT	DLG2	-	pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.413	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	47	0	A	NM_001364		84245625	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.996	C
DLG5	9231	genome.wustl.edu	37	10	79566671	79566671	+	Silent	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:79566671C>A	ENST00000372391.2	-	26	4817	c.4812G>T	c.(4810-4812)cgG>cgT	p.R1604R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1264R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1604	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CATCTGCCAGCCGGTCGTACA	0.602																																																	0													112.0	98.0	103.0					10																	79566671		2203	4300	6503	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4812G>T	10.37:g.79566671C>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R1604	ENST00000372391.2	37	c.4812	CCDS7353.2	10																																																																																			DLG5	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0.00	58	0	C			79566671	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.148	A
DLX5	1749	genome.wustl.edu	37	7	96651664	96651664	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:96651664G>A	ENST00000222598.4	-	2	846	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.P125S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	125					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCACCTCGGGCTCGGTCACT	0.448																																																	0													113.0	112.0	112.0					7																	96651664		2203	4300	6503	SO:0001583	missense	0				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.373C>T	7.37:g.96651664G>A	ENSP00000222598:p.Pro125Ser		B7Z4P3|Q9UPL1	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P125S	ENST00000222598.4	37	c.373	CCDS5647.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365469	0.82463	.	.	ENSG00000105880	ENST00000222598	D	0.90955	-2.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.43554	1.36	0.80722	D	1	D;B	0.53312	0.959;0.228	P;B	0.46076	0.503;0.206	D	0.87488	0.2425	10	0.30078	T	0.28	-15.4406	18.7072	0.91643	0.0:0.0:1.0:0.0	.	125;125	B7Z4P3;P56178	.;DLX5_HUMAN	S	125	ENSP00000222598:P125S	ENSP00000222598:P125S	P	-	1	0	DLX5	96489600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.587000	0.82613	2.752000	0.94435	0.467000	0.42956	CCC	DLX5	-	NULL	ENSG00000105880		0.448	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX5	HGNC	protein_coding	OTTHUMT00000334371.2		0.00	43	0	G			96651664	-1			no_errors	ENST00000222598	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225156468	225156468	+	Intron	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:225156468A>G	ENST00000445597.2	+	7	1032				DNAH14_ENST00000366849.1_Missense_Mutation_p.N197S|DNAH14_ENST00000439375.2_Missense_Mutation_p.N220S|DNAH14_ENST00000400952.3_Missense_Mutation_p.N220S|DNAH14_ENST00000430092.1_Missense_Mutation_p.N220S			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TAGGTTATTAATATAGTTGGT	0.279																																																	0													103.0	87.0	92.0					1																	225156468		692	1588	2280	SO:0001627	intron_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1032+1183A>G	1.37:g.225156468A>G			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.N220S	ENST00000445597.2	37	c.659		1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513625	0.27123	.	.	ENSG00000185842	ENST00000430092;ENST00000400952;ENST00000366849;ENST00000439375	T;T;T;T	0.30448	1.57;1.53;1.77;1.57	5.34	4.04	0.47022	.	0.799545	0.11189	N	0.590134	T	0.11495	0.0280	.	.	.	0.22342	N	0.999189	B;B	0.27732	0.187;0.187	B;B	0.28011	0.058;0.085	T	0.34204	-0.9838	9	0.02654	T	1	.	5.4812	0.16725	0.8469:0.0:0.1531:0.0	.	220;220	Q0VDD8-4;Q0VDD8-2	.;.	S	220;220;197;220	ENSP00000414402:N220S;ENSP00000383737:N220S;ENSP00000355814:N197S;ENSP00000392061:N220S	ENSP00000355814:N197S	N	+	2	0	DNAH14	223223091	0.002000	0.14202	0.047000	0.18901	0.005000	0.04900	0.746000	0.26275	2.154000	0.67381	0.418000	0.28097	AAT	DNAH14	-	NULL	ENSG00000185842		0.279	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	-	0.00	91	0	A	XM_059166		225156468	+1	tier1	-	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	37.68	43	26	SNP	0.028	G
DOPEY2	9980	genome.wustl.edu	37	21	37652633	37652633	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:37652633A>T	ENST00000399151.3	+	31	6105	c.6020A>T	c.(6019-6021)aAg>aTg	p.K2007M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2007					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAATGTTTAAGGATTTAATG	0.328																																																	0													181.0	162.0	168.0					21																	37652633		2202	4299	6501	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6020A>T	21.37:g.37652633A>T	ENSP00000382104:p.Lys2007Met		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.K2007M	ENST00000399151.3	37	c.6020	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436881	0.83885	.	.	ENSG00000142197	ENST00000399151	T	0.44083	0.93	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.81239	2.535	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71494	-0.4576	10	0.62326	D	0.03	3.4813	15.4586	0.75336	1.0:0.0:0.0:0.0	.	2000;2007	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	2007	ENSP00000382104:K2007M	ENSP00000382104:K2007M	K	+	2	0	DOPEY2	36574503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.820000	0.92003	2.058000	0.61347	0.533000	0.62120	AAG	DOPEY2	-	NULL	ENSG00000142197		0.328	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0.00	70	0	A	NM_005128		37652633	+1			no_errors	ENST00000399151	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
DUSP6	1848	genome.wustl.edu	37	12	89745661	89745661	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:89745661C>T	ENST00000279488.7	-	1	1387	c.156G>A	c.(154-156)tcG>tcA	p.S52S	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.S52S	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	52	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGTTGATGGCCGACTCGATGT	0.687																																					Colon(132;3456 5224)												0													28.0	23.0	25.0					12																	89745661		2199	4297	6496	SO:0001819	synonymous_variant	0			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.156G>A	12.37:g.89745661C>T			O75109|Q53Y75|Q9BSH6	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S52	ENST00000279488.7	37	c.156	CCDS9033.1	12																																																																																			DUSP6	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom	ENSG00000139318		0.687	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2		0.00	13	0	C	NM_001946, NM_022652		89745661	-1			no_errors	ENST00000279488	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T
DYTN	391475	genome.wustl.edu	37	2	207530608	207530608	+	Silent	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:207530608T>G	ENST00000452335.2	-	10	1242	c.1126A>C	c.(1126-1128)Aga>Cga	p.R376R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	376						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGGTCCCGTCTTATCTGTTGT	0.458																																																	0													208.0	196.0	200.0					2																	207530608		1915	4133	6048	SO:0001819	synonymous_variant	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1126A>C	2.37:g.207530608T>G				Silent	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.R376	ENST00000452335.2	37	c.1126	CCDS46502.1	2																																																																																			DYTN	-	NULL	ENSG00000232125		0.458	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	-	0.00	82	0	T			207530608	-1	tier1	-	no_errors	ENST00000452335	ensembl	human	known	74_37	silent	7.87	82	7	SNP	0.049	G
DZANK1	55184	genome.wustl.edu	37	20	18414185	18414186	+	Intron	INS	-	-	A	rs112253557		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:18414185_18414186insA	ENST00000358866.6	-	8	884				RNA5SP476_ENST00000516613.1_RNA|DZANK1_ENST00000357236.4_Intron|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000487128.1_Intron|DZANK1_ENST00000262547.5_Intron			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1								zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						gattctgtctcaaaaaaaaaaa	0.411																																																	0																																										SO:0001627	intron_variant	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.861+109->T	20.37:g.18414196_18414196dupA			B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	RNA	INS	-	NULL	ENST00000358866.6	37	NULL	CCDS46582.1	20																																																																																			DZANK1	-	-	ENSG00000089091		0.411	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1		0.00	12	0	-	NM_001099407		18414186	-1	tier1		no_errors	ENST00000460891	ensembl	human	known	74_37	rna	14.81	23	4	INS	0.008:0.014	A
EDC3	80153	genome.wustl.edu	37	15	74963903	74963903	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:74963903T>G	ENST00000315127.4	-	3	558	c.377A>C	c.(376-378)cAg>cCg	p.Q126P	EDC3_ENST00000426797.3_Missense_Mutation_p.Q126P|EDC3_ENST00000568176.1_Missense_Mutation_p.Q126P	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	126					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGCAACATCCTGGCTCTTCAC	0.527																																																	0													142.0	122.0	129.0					15																	74963903		2197	4296	6493	SO:0001583	missense	0			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.377A>C	15.37:g.74963903T>G	ENSP00000320503:p.Gln126Pro		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.Q126P	ENST00000315127.4	37	c.377	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812294	0.32053	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.45	5.45	0.79879	.	0.287809	0.33813	N	0.004528	T	0.22936	0.0554	L	0.27053	0.805	0.27906	N	0.938805	P	0.38335	0.627	B	0.32022	0.139	T	0.16305	-1.0407	9	0.37606	T	0.19	0.0	10.8011	0.46489	0.0:0.0:0.1584:0.8416	.	126	Q96F86	EDC3_HUMAN	P	126	.	ENSP00000320503:Q126P	Q	-	2	0	EDC3	72750956	1.000000	0.71417	0.934000	0.37439	0.581000	0.36288	4.086000	0.57664	2.071000	0.62044	0.533000	0.62120	CAG	EDC3	-	NULL	ENSG00000179151		0.527	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1		0.00	42	0	T	NM_025083		74963903	-1			no_errors	ENST00000315127	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.382	G
EGFR	1956	genome.wustl.edu	37	7	55229240	55229240	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:55229240G>T	ENST00000275493.2	+	13	1724	c.1547G>T	c.(1546-1548)tGg>tTg	p.W516L	EGFR_ENST00000454757.2_Missense_Mutation_p.W463L|EGFR_ENST00000442591.1_Missense_Mutation_p.W516L|EGFR_ENST00000344576.2_Missense_Mutation_p.W516L|EGFR_ENST00000342916.3_Missense_Mutation_p.W516L|EGFR_ENST00000455089.1_Missense_Mutation_p.W471L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	516					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGGCTGCTGGGGCCCGGAG	0.637		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													93.0	96.0	95.0					7																	55229240		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1547G>T	7.37:g.55229240G>T	ENSP00000275493:p.Trp516Leu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.W516L	ENST00000275493.2	37	c.1547	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.343720	0.95807	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	6.07	6.07	0.98685	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;0.95;1.0;1.0	T	0.81967	-0.0690	10	0.87932	D	0	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	471;516;516;516	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	471;516;386;516;516;516;463;310	ENSP00000415559:W471L;ENSP00000342376:W516L;ENSP00000345973:W516L;ENSP00000275493:W516L;ENSP00000410031:W516L;ENSP00000395243:W463L	ENSP00000275493:W516L	W	+	2	0	EGFR	55196734	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.745000	0.98856	2.884000	0.98904	0.655000	0.94253	TGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000146648		0.637	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2		0.00	47	0	G	NM_005228		55229240	+1			no_errors	ENST00000275493	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398																																																	0													119.0	112.0	114.0					1																	79387436		1946	4138	6084	SO:0001587	stop_gained	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1119G>A	1.37:g.79387436C>T	ENSP00000359778:p.Trp373*		B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.W373*	ENST00000370742.3	37	c.1119	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540107	0.85917	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	3	0	ELTD1	79160024	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG	ELTD1	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000162618		0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0.00	48	0	C	NM_022159		79387436	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	nonsense	56.41	17	22	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79404882	79404882	+	Silent	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:79404882A>C	ENST00000370742.3	-	4	450	c.387T>G	c.(385-387)acT>acG	p.T129T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	129					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTTTGTTAAAGTTTTATTAA	0.244																																																	0													37.0	37.0	37.0					1																	79404882		1779	4029	5808	SO:0001819	synonymous_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.387T>G	1.37:g.79404882A>C			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T129	ENST00000370742.3	37	c.387	CCDS41352.1	1																																																																																			ELTD1	-	NULL	ENSG00000162618		0.244	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0.00	56	0	A	NM_022159		79404882	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	silent	51.85	26	28	SNP	0.945	C
BCRP7	100133163	genome.wustl.edu	37	22	18846026	18846026	+	3'UTR	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:18846026C>A	ENST00000412938.1	+	0	3384																											ACGTTGAAGGCTGCCTTCAGT	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3381C>A	22.37:g.18846026C>A				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008132.13	-	-	ENSG00000161103		0.647	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	-	0.00	308	0	C			18846026	+1	tier1	-	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	6.78	275	20	SNP	1.000	A
BCRP2	400892	genome.wustl.edu	37	22	21470345	21470345	+	lincRNA	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:21470345G>T	ENST00000420508.1	-	0	3383				BCRP2_ENST00000461808.1_RNA																							ACTGAAGGCAGGCTTCAACGT	0.632																																																	0																																												0																															22.37:g.21470345G>T				RNA	SNP	-	NULL	ENST00000420508.1	37	NULL		22																																																																																			KB-1592A4.15	-	-	ENSG00000197210		0.632	KB-1592A4.15-001	KNOWN	basic	lincRNA	ENSG00000197210	Clone_based_vega_gene	lincRNA	OTTHUMT00000320579.1	-	0.00	107	0	G			21470345	-1	tier1	-	no_errors	ENST00000420508	ensembl	human	known	74_37	rna	13.97	117	19	SNP	1.000	T
AL359878.1	0	genome.wustl.edu	37	10	1018854	1018854	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:1018854A>G	ENST00000381466.1	-	2	117	c.18T>C	c.(16-18)acT>acC	p.T6T																								AGCCACATCGAGTTTTCTGGA	0.537																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000381466.1:c.18T>C	10.37:g.1018854A>G				Silent	SNP	NULL	p.T6	ENST00000381466.1	37	c.18		10																																																																																			AL359878.1	-	NULL	ENSG00000205740		0.537	AL359878.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000205740	Clone_based_ensembl_gene	protein_coding		-	0.00	25	0	A			1018854	-1	tier1	-	no_errors	ENST00000381466	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.000	G
LOC105377213	105377213	genome.wustl.edu	37	X	150684613	150684613	+	lincRNA	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:150684613A>T	ENST00000454307.1	+	0	378																											AGTTCAAAGGACTAGATCTAT	0.483																																																	0																																												0																															X.37:g.150684613A>T				RNA	SNP	-	NULL	ENST00000454307.1	37	NULL		X																																																																																			XX-FW80269A6.1	-	-	ENSG00000214915		0.483	XX-FW80269A6.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000214915	Clone_based_vega_gene	lincRNA	OTTHUMT00000078422.1	-	0.00	35	0	A			150684613	+1	tier1	-	no_errors	ENST00000454307	ensembl	human	known	74_37	rna	66.67	9	18	SNP	0.000	T
RP11-754I20.1	0	genome.wustl.edu	37	14	19114837	19114837	+	RNA	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:19114837T>G	ENST00000553170.1	+	0	189																											TGGTGAGAATTTGTCAGTGGT	0.358																																																	0																																												0																															14.37:g.19114837T>G				RNA	SNP	-	NULL	ENST00000553170.1	37	NULL		14																																																																																			RP11-754I20.1	-	-	ENSG00000215398		0.358	RP11-754I20.1-002	KNOWN	basic	processed_transcript	ENSG00000215398	Clone_based_vega_gene	pseudogene	OTTHUMT00000408394.1	-	0.00	308	0	T			19114837	+1	tier1	-	no_errors	ENST00000553170	ensembl	human	known	74_37	rna	18.49	237	54	SNP	0.578	G
INPP5A	3632	genome.wustl.edu	37	10	134596907	134596907	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:134596907A>G	ENST00000368594.3	+	0	2890				RP11-288G11.3_ENST00000441365.2_lincRNA	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGCGGGTTTCAGCTGTTGGTC	0.557																																					Pancreas(63;823 1267 11107 20380 51626)												0																																										SO:0001624	3_prime_UTR_variant	0			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.*1374A>G	10.37:g.134596907A>G			D3DXI3|Q14640|Q5JSF1	RNA	SNP	-	NULL	ENST00000368594.3	37	NULL	CCDS7669.2	10																																																																																			RP11-288G11.3	-	-	ENSG00000234531		0.557	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234531	Clone_based_vega_gene	protein_coding	OTTHUMT00000051085.1	-	0.00	65	0	A	NM_005539		134596907	-1	tier1	-	no_errors	ENST00000441365	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.000	G
RP11-423O2.5	0	genome.wustl.edu	37	1	142803582	142803582	+	lincRNA	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:142803582A>C	ENST00000423385.1	-	0	1383																											CATAGATTTAAAAAATTATGT	0.274																																																	0																																												0																															1.37:g.142803582A>C				RNA	SNP	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.274	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1	-	0.00	708	0	A			142803582	-1	tier1	-	no_errors	ENST00000423385	ensembl	human	known	74_37	rna	8.17	506	45	SNP	0.033	C
LRP2BP	55805	genome.wustl.edu	37	4	186291988	186291988	+	Intron	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:186291988T>C	ENST00000328559.7	-	7	1615				LRP2BP_ENST00000505916.1_Intron|LRP2BP_ENST00000510776.1_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TGTAGAGTTGTGAAATGGAAA	0.478																																																	0													87.0	73.0	77.0					4																	186291988		2203	4300	6503	SO:0001627	intron_variant	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.804-20A>G	4.37:g.186291988T>C			A6NJR7|A7E219|B3KX83|Q9NSN6	RNA	SNP	-	NULL	ENST00000328559.7	37	NULL	CCDS3840.1	4																																																																																			RP11-714G18.1	-	-	ENSG00000250410		0.478	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000250410	Clone_based_vega_gene	protein_coding	OTTHUMT00000360679.2	-	0.00	40	0	T	NM_018409		186291988	+1	tier1	-	no_errors	ENST00000514884	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.000	C
SNORA70	26778	genome.wustl.edu	37	12	76083072	76083072	+	lincRNA	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:76083072T>G	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							TGACCTCGGCTTTCTGAAATG	0.388																																																	0																																												0																															12.37:g.76083072T>G				RNA	SNP	-	NULL	ENST00000552856.1	37	NULL		12																																																																																			SNORA70	-	-	ENSG00000251893		0.388	RP11-114H23.1-001	KNOWN	basic	lincRNA	ENSG00000251893	RFAM	lincRNA	OTTHUMT00000405775.2	-	0.00	19	0	T			76083072	-1	tier1	-	no_errors	ENST00000516084	ensembl	human	novel	74_37	rna	31.58	13	6	SNP	0.003	G
RP11-467N20.5	0	genome.wustl.edu	37	15	23412175	23412175	+	Silent	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:23412175A>C	ENST00000558241.1	-	2	372	c.282T>G	c.(280-282)acT>acG	p.T94T																	endometrium(1)	1						AACCACCAGAAGTGGTTGTCT	0.532																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000558241.1:c.282T>G	15.37:g.23412175A>C				Silent	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.T94	ENST00000558241.1	37	c.282		15																																																																																			RP11-467N20.5	-	NULL	ENSG00000259455		0.532	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000259455	Clone_based_vega_gene	protein_coding	OTTHUMT00000415942.1	-	0.00	403	0	A			23412175	-1	tier1	-	no_errors	ENST00000558241	ensembl	human	novel	74_37	silent	72.13	50	132	SNP	0.150	C
BCAS3	54828	genome.wustl.edu	37	17	59147352	59147352	+	Intron	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:59147352C>T	ENST00000390652.5	+	21	2105				BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|RP11-264B14.1_ENST00000588604.1_RNA|RP11-264B14.2_ENST00000593107.1_RNA|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000589222.1_Intron|BCAS3_ENST00000588462.1_Intron	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAGAAGATCCGCACGTCACC	0.547																																																	0													55.0	62.0	60.0					17																	59147352		2203	4300	6503	SO:0001627	intron_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2075-4929C>T	17.37:g.59147352C>T				RNA	SNP	-	NULL	ENST00000390652.5	37	NULL	CCDS45749.1	17																																																																																			RP11-264B14.2	-	-	ENSG00000267449		0.547	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000267449	Clone_based_vega_gene	protein_coding	OTTHUMT00000449578.1	-	0.00	86	0	C	NM_017679		59147352	-1	tier1	-	no_errors	ENST00000593107	ensembl	human	known	74_37	rna	19.74	61	15	SNP	0.998	T
EP400	57634	genome.wustl.edu	37	12	132530056	132530056	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:132530056G>A	ENST00000333577.4	+	39	7194	c.7085G>A	c.(7084-7086)gGt>gAt	p.G2362D	EP400_ENST00000330386.6_Missense_Mutation_p.G2245D|EP400_ENST00000389562.2_Missense_Mutation_p.G2325D|EP400_ENST00000332482.4_Missense_Mutation_p.G2289D|EP400_ENST00000389561.2_Missense_Mutation_p.G2326D			Q96L91	EP400_HUMAN	E1A binding protein p400	2362	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGAGCCTGGTCAAGACAAC	0.567																																																	0													64.0	63.0	63.0					12																	132530056		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7085G>A	12.37:g.132530056G>A	ENSP00000333602:p.Gly2362Asp		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G2362D	ENST00000333577.4	37	c.7085		12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464339	0.26335	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.89123	-2.47;-2.45;-2.46;-2.47;-2.47	5.61	4.72	0.59763	.	0.211154	0.48767	D	0.000163	D	0.86661	0.5986	L	0.37630	1.12	0.35859	D	0.827373	P;P;P	0.49783	0.928;0.928;0.928	P;P;P	0.49226	0.603;0.603;0.603	D	0.86381	0.1729	10	0.16896	T	0.51	.	15.4641	0.75384	0.0:0.1675:0.8324:0.0	.	2326;2245;2325	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	D	2362;2326;2325;2289;2245;2326	ENSP00000333602:G2362D;ENSP00000374212:G2326D;ENSP00000374213:G2325D;ENSP00000331737:G2289D;ENSP00000330620:G2245D	ENSP00000330620:G2245D	G	+	2	0	EP400	131096009	1.000000	0.71417	0.049000	0.19019	0.217000	0.24651	7.448000	0.80631	1.381000	0.46364	0.655000	0.94253	GGT	EP400	-	superfamily_Homeodomain-like,pfscan_Myb-like_dom	ENSG00000183495		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0.00	41	0	G	NM_015409		132530056	+1			no_errors	ENST00000333577	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.958	A
EPHA4	2043	genome.wustl.edu	37	2	222284094	222284094	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:222284094A>G	ENST00000281821.2	-	0	5000				EPHA4_ENST00000469354.1_5'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4						adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTGGCATGTATTTTTCTGTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.*1998T>C	2.37:g.222284094A>G			A8K2P1|B2R601|B7Z6Q8|Q2M380	RNA	SNP	-	NULL	ENST00000281821.2	37	NULL	CCDS2447.1	2																																																																																			EPHA4	-	-	ENSG00000116106		0.378	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0.00	71	0	A			222284094	-1	tier1	-	no_errors	ENST00000469354	ensembl	human	putative	74_37	rna	17.39	57	12	SNP	0.990	G
ERC2	26059	genome.wustl.edu	37	3	55543067	55543067	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:55543067A>G	ENST00000288221.6	-	0	5406				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAAACATCAGAGAATATTACA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*2277T>C	3.37:g.55543067A>G			Q2T9F6|Q86TK4	RNA	SNP	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-	ENSG00000187672		0.323	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0.00	37	0	A	NM_015576		55543067	-1	tier1	-	no_errors	ENST00000486496	ensembl	human	known	74_37	rna	40.91	26	18	SNP	0.950	G
ERCC6L2	375748	genome.wustl.edu	37	9	98774580	98774580	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:98774580G>A	ENST00000407474.3	+	4	1204	c.691G>A	c.(691-693)Gcc>Acc	p.A231T				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1261	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TATAACCAATGCCACATCAGA	0.318																																																	0													51.0	50.0	51.0					9																	98774580		2202	4297	6499	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.691G>A	9.37:g.98774580G>A	ENSP00000384365:p.Ala231Thr		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	NULL	p.A231T	ENST00000407474.3	37	c.691		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.542525|4.542525	0.85917|0.85917	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000407474|ENST00000320486	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.50627|.	D|.	0.000120|.	T|T	0.54515|0.54515	0.1863|0.1863	.|.	.|.	.|.	0.27722|0.27722	N|N	0.945084|0.945084	D|.	0.71674|.	0.998|.	D|.	0.63113|.	0.911|.	T|T	0.49790|0.49790	-0.8902|-0.8902	8|4	0.42905|.	T|.	0.14|.	.|.	18.309|18.309	0.90192|0.90192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231|.	A4D997|.	CI102_HUMAN|.	T|I	231|221	.|.	ENSP00000384365:A231T|.	A|M	+|+	1|3	0|0	C9orf102|C9orf102	97814401|97814401	0.988000|0.988000	0.35896|0.35896	0.926000|0.926000	0.36857|0.36857	0.962000|0.962000	0.63368|0.63368	2.275000|2.275000	0.43399|0.43399	2.553000|2.553000	0.86117|0.86117	0.650000|0.650000	0.86243|0.86243	GCC|ATG	ERCC6L2	-	NULL	ENSG00000182150		0.318	ERCC6L2-201	KNOWN	basic	protein_coding	ERCC6L2	HGNC	protein_coding		-	0.00	58	0	G	NM_001010895		98774580	+1	tier1	-	no_errors	ENST00000407474	ensembl	human	known	74_37	missense	27.50	58	22	SNP	0.965	A
ERO1LB	56605	genome.wustl.edu	37	1	236433178	236433178	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236433178G>C	ENST00000354619.5	-	2	420	c.219C>G	c.(217-219)taC>taG	p.Y73*	RNU2-70P_ENST00000410718.1_RNA|ERO1LB_ENST00000327333.8_Nonsense_Mutation_p.Y73*	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	73					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ACCTTACCTTGTAATAACGAA	0.328																																																	0													68.0	73.0	71.0					1																	236433178		2202	4296	6498	SO:0001587	stop_gained	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.219C>G	1.37:g.236433178G>C	ENSP00000346635:p.Tyr73*		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.Y73*	ENST00000354619.5	37	c.219	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.158194	0.97334	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	.	.	.	5.53	1.05	0.20165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4269	9.749	0.40464	0.398:0.0:0.602:0.0	.	.	.	.	X	73	.	ENSP00000377574:Y73X	Y	-	3	2	ERO1LB	234499801	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.066000	0.41452	0.315000	0.23110	-0.119000	0.15052	TAC	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.328	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0.00	241	0	G	NM_019891		236433178	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	nonsense	14.44	160	27	SNP	1.000	C
ESRP1	54845	genome.wustl.edu	37	8	95704982	95704982	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:95704982C>G	ENST00000433389.2	+	14	2088	c.1898C>G	c.(1897-1899)aCg>aGg	p.T633R	ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000423620.2_Missense_Mutation_p.T629R|ESRP1_ENST00000358397.5_Missense_Mutation_p.T629R	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	633					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CAGCCTGGCACGGTGGTCAGA	0.502																																																	0													78.0	75.0	76.0					8																	95704982		1916	4116	6032	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1898C>G	8.37:g.95704982C>G	ENSP00000405738:p.Thr633Arg		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.T633R	ENST00000433389.2	37	c.1898	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954364	0.53293	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000517610	T;T;T;T	0.28666	1.6;2.94;2.88;1.6	6.07	4.27	0.50696	.	0.222962	0.46758	D	0.000264	T	0.19805	0.0476	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.004;0.009;0.004	T	0.04467	-1.0949	10	0.30854	T	0.27	-7.1704	11.5709	0.50832	0.0:0.8512:0.0:0.1488	.	629;629;633	E9PB47;Q6NXG1-3;Q6NXG1	.;.;ESRP1_HUMAN	R	629;633;629;492	ENSP00000407349:T629R;ENSP00000405738:T633R;ENSP00000351168:T629R;ENSP00000429125:T492R	ENSP00000351168:T629R	T	+	2	0	ESRP1	95774158	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.158000	0.50723	1.581000	0.49865	0.655000	0.94253	ACG	ESRP1	-	NULL	ENSG00000104413		0.502	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	-	0.00	89	0	C	NM_017697		95704982	+1	tier1	-	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	13.79	50	8	SNP	1.000	G
EXOC5	10640	genome.wustl.edu	37	14	57696600	57696600	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:57696600C>T	ENST00000413566.2	-	12	1508		c.e12-1		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCTTGAATACTAGTACATCA	0.343																																																	0													49.0	45.0	46.0					14																	57696600		1807	3987	5794	SO:0001630	splice_region_variant	0			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1149-1G>A	14.37:g.57696600C>T			B2R6C5	Splice_Site	SNP	-	e12-1	ENST00000413566.2	37	c.1149-1	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247106	0.80024	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8874	0.92385	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC5	56766353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.468000	0.83385	0.585000	0.79938	.	EXOC5	-	-	ENSG00000070367		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1		0.00	44	0	C	NM_006544	Intron	57696600	-1			no_errors	ENST00000413566	ensembl	human	known	74_37	splice_site	14.29	42	7	SNP	1.000	T
FAM155A	728215	genome.wustl.edu	37	13	107822984	107822984	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:107822984C>T	ENST00000375915.2	-	3	1376	c.1238G>A	c.(1237-1239)tGc>tAc	p.C413Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	413						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGCTGTTGCACAGTCTTGT	0.498																																																	0													266.0	184.0	212.0					13																	107822984		2203	4300	6503	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1238G>A	13.37:g.107822984C>T	ENSP00000365080:p.Cys413Tyr		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.C413Y	ENST00000375915.2	37	c.1238	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376344	0.61735	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.29908	0.895	0.58432	D	0.999998	D	0.56968	0.978	P	0.56865	0.808	T	0.61128	-0.7125	9	0.48119	T	0.1	.	16.0439	0.80704	0.0:0.8664:0.1336:0.0	.	413	B1AL88	F155A_HUMAN	Y	413	.	ENSP00000365080:C413Y	C	-	2	0	FAM155A	106620985	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.438000	0.66550	2.723000	0.93209	0.638000	0.83543	TGC	FAM155A	-	NULL	ENSG00000204442		0.498	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0.00	54	0	C	NM_001080396		107822984	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	16.39	50	10	SNP	1.000	T
FAM214B	80256	genome.wustl.edu	37	9	35107913	35107913	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:35107913T>C	ENST00000378561.1	-	2	3414	c.359A>G	c.(358-360)cAc>cGc	p.H120R	FAM214B_ENST00000378557.1_Missense_Mutation_p.H120R|FAM214B_ENST00000603301.1_Missense_Mutation_p.H120R|FAM214B_ENST00000488109.2_Missense_Mutation_p.H120R|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.H120R|FAM214B_ENST00000378554.2_Missense_Mutation_p.H120R|FAM214B_ENST00000605244.1_Missense_Mutation_p.H120R			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	120						nucleus (GO:0005634)											GAGGCCACGGTGGGAGAAATG	0.602																																																	0													45.0	52.0	50.0					9																	35107913		2203	4300	6503	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.359A>G	9.37:g.35107913T>C	ENSP00000367823:p.His120Arg		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.H120R	ENST00000378561.1	37	c.359	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754918	0.49362	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.71358	0.3330	L	0.59436	1.845	0.34516	D	0.707643	D	0.63880	0.993	D	0.72338	0.977	T	0.79624	-0.1726	9	0.49607	T	0.09	-17.4083	14.6319	0.68663	0.0:0.0:0.0:1.0	.	120	Q7L5A3	K1539_HUMAN	R	120	.	ENSP00000319897:H120R	H	-	2	0	KIAA1539	35097913	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	3.534000	0.53568	2.048000	0.60808	0.454000	0.30748	CAC	FAM214B	-	NULL	ENSG00000005238		0.602	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0.00	111	0	T	NM_025182		35107913	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	5.56	119	7	SNP	0.996	C
FAM9C	171484	genome.wustl.edu	37	X	13058886	13058886	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:13058886T>C	ENST00000333995.3	-	5	450	c.320A>G	c.(319-321)cAa>cGa	p.Q107R	FAM9C_ENST00000380625.3_Missense_Mutation_p.Q107R|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	107						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCTTTTTAGTTGTGTTGTTCT	0.289																																																	0													97.0	76.0	83.0					X																	13058886		2202	4293	6495	SO:0001583	missense	0				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.320A>G	X.37:g.13058886T>C	ENSP00000334430:p.Gln107Arg		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.Q107R	ENST00000333995.3	37	c.320	CCDS35203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.029|3.029	-0.200086|-0.200086	0.06219|0.06219	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000438997|ENST00000380625;ENST00000333995	.|T;T	.|0.21932	.|1.98;1.98	0.597|0.597	-0.651|-0.651	0.11454|0.11454	.|.	.|.	.|.	.|.	.|.	T|T	0.12008|0.12008	0.0292|0.0292	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.19666	.|0.026	T|T	0.27191|0.27191	-1.0081|-1.0081	4|8	.|0.72032	.|D	.|0.01	.|.	.|.	.|.	.|.	.|.	.|107	.|Q8IZT9	.|FAM9C_HUMAN	D|R	67|107	.|ENSP00000369999:Q107R;ENSP00000334430:Q107R	.|ENSP00000334430:Q107R	N|Q	-|-	1|2	0|0	FAM9C|FAM9C	12968807|12968807	0.998000|0.998000	0.40836|0.40836	0.001000|0.001000	0.08648|0.08648	0.048000|0.048000	0.14542|0.14542	1.385000|1.385000	0.34408|0.34408	-0.349000|-0.349000	0.08274|0.08274	0.158000|0.158000	0.16466|0.16466	AAC|CAA	FAM9C	-	pfam_Cor1/Xlr/Xmr	ENSG00000187268		0.289	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	-	0.00	42	0	T	NM_174901		13058886	-1	tier1	-	no_errors	ENST00000333995	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.001	C
FAM47C	442444	genome.wustl.edu	37	X	37029016	37029016	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:37029016C>T	ENST00000358047.3	+	1	2585	c.2533C>T	c.(2533-2535)Cgt>Tgt	p.R845C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	845										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCTCTTCAACGTAGACACAC	0.483																																																	0													110.0	102.0	105.0					X																	37029016		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2533C>T	X.37:g.37029016C>T	ENSP00000367913:p.Arg845Cys		Q6ZU46	Missense_Mutation	SNP	NULL	p.R845C	ENST00000358047.3	37	c.2533	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	C	7.360	0.624608	0.14193	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.217	0.217	0.15264	.	.	.	.	.	T	0.12263	0.0298	N	0.25647	0.755	0.09310	N	1	D	0.61697	0.99	P	0.49953	0.627	T	0.24835	-1.0149	8	0.38643	T	0.18	.	.	.	.	.	845	Q5HY64	FA47C_HUMAN	C	845	ENSP00000367913:R845C	ENSP00000367913:R845C	R	+	1	0	FAM47C	36938937	0.002000	0.14202	0.020000	0.16555	0.020000	0.10135	-0.550000	0.06034	0.273000	0.22049	0.277000	0.19347	CGT	FAM47C	-	NULL	ENSG00000198173		0.483	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0.00	52	0	C	NM_001013736		37029016	+1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	71.43	14	35	SNP	0.137	T
FAT3	120114	genome.wustl.edu	37	11	92498156	92498156	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:92498156T>G	ENST00000298047.6	+	5	4113	c.4096T>G	c.(4096-4098)Ttt>Gtt	p.F1366V	FAT3_ENST00000409404.2_Missense_Mutation_p.F1366V|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.F1216V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1366	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGATGAGCCGTTTTATAACTT	0.498										TCGA Ovarian(4;0.039)																																							0													122.0	120.0	121.0					11																	92498156		1898	4106	6004	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4096T>G	11.37:g.92498156T>G	ENSP00000298047:p.Phe1366Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F1366V	ENST00000298047.6	37	c.4096		11	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899699	0.33535	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59638	0.25;0.25;0.25	5.97	5.97	0.96955	.	.	.	.	.	T	0.48874	0.1524	L	0.31804	0.96	0.80722	D	1	P	0.49783	0.928	B	0.44108	0.441	T	0.41233	-0.9520	9	0.17369	T	0.5	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	1366	Q8TDW7-3	.	V	1366;1366;1216	ENSP00000298047:F1366V;ENSP00000387040:F1366V;ENSP00000432586:F1216V	ENSP00000298047:F1366V	F	+	1	0	FAT3	92137804	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	5.649000	0.67936	2.288000	0.76882	0.533000	0.62120	TTT	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.498	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	31	0	T	NM_001008781		92498156	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	46.43	15	13	SNP	0.987	G
FBF1	85302	genome.wustl.edu	37	17	73936884	73936884	+	Intron	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:73936884G>A	ENST00000586717.1	-	1	191				FBF1_ENST00000389570.4_Intron|FBF1_ENST00000588478.1_5'UTR|FBF1_ENST00000586631.2_Intron|FBF1_ENST00000319129.5_Intron			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCCCTAGCCGGAGTCGCCCCT	0.637																																																	0													51.0	60.0	57.0					17																	73936884		692	1591	2283	SO:0001627	intron_variant	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.82+44C>T	17.37:g.73936884G>A			B5MEM5|Q96IF6|Q96JG4|Q96MA8	RNA	SNP	-	NULL	ENST00000586717.1	37	NULL		17																																																																																			FBF1	-	-	ENSG00000188878		0.637	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	-	0.00	43	0	G	NM_001080542		73936884	-1	tier1	-	no_errors	ENST00000588478	ensembl	human	known	74_37	rna	33.33	36	18	SNP	0.000	A
FIGN	55137	genome.wustl.edu	37	2	164592486	164592486	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:164592486G>T	ENST00000333129.3	-	0	31				FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_De_novo_Start_OutOfFrame	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACGGACTGCAGCCTCTGCCAT	0.507																																																	0																																												0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.-284C>A	2.37:g.164592486G>T			B3KWM0|Q9H6M5|Q9NVZ9	RNA	SNP	-	NULL	ENST00000333129.3	37	NULL	CCDS2221.2	2																																																																																			FIGN	-	-	ENSG00000182263		0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	38	0	G	NM_018086		164592486	-1	tier1	-	no_errors	ENST00000482917	ensembl	human	known	74_37	rna	10.00	36	4	SNP	1.000	T
LINC01235	401492	genome.wustl.edu	37	9	13431273	13431273	+	lincRNA	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:13431273G>A	ENST00000604724.1	-	0	55					NR_033863.1																						AGCTGCTTGCGCTGCTCCAGT	0.622																																																	0																																												0																															9.37:g.13431273G>A				RNA	SNP	-	NULL	ENST00000604724.1	37	NULL		9																																																																																			RP11-536O18.2	-	-	ENSG00000270547		0.622	RP11-536O18.2-001	KNOWN	basic	lincRNA	FLJ41200	Clone_based_vega_gene	lincRNA	OTTHUMT00000469529.1	-	0.00	35	0	G			13431273	-1	tier1	-	no_errors	ENST00000604724	ensembl	human	known	74_37	rna	10.71	50	6	SNP	0.013	A
FMO6P	388714	genome.wustl.edu	37	1	171116828	171116828	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:171116828A>G	ENST00000236166.3	+	4	658	c.548A>G	c.(547-549)aAg>aGg	p.K183R				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	183						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										GAAGCCTTCAAGGGGAAGAGG	0.493																																																	0																																										SO:0001583	missense	0			AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.548A>G	1.37:g.171116828A>G	ENSP00000236166:p.Lys183Arg			Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1	p.K183R	ENST00000236166.3	37	c.548		1	.	.	.	.	.	.	.	.	.	.	A	0.619	-0.821862	0.02755	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.36	-1.35	0.09114	.	0.350255	0.28958	N	0.013600	T	0.04998	0.0134	.	.	.	0.09310	N	0.999997	B	0.06786	0.001	B	0.15052	0.012	T	0.41251	-0.9519	8	0.13108	T	0.6	-2.6287	5.7878	0.18343	0.494:0.2359:0.2701:0.0	.	183	O60774	FMO6_HUMAN	R	183	.	ENSP00000236166:K183R	K	+	2	0	FMO6P	169383452	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.232000	0.17891	-0.525000	0.06391	-0.475000	0.04921	AAG	FMO6P	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000117507		0.493	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	-	0.00	56	0	A	XM_371326		171116828	+1	tier1	-	no_errors	ENST00000236166	ensembl	human	novel	74_37	missense	7.14	52	4	SNP	0.443	G
FN1	2335	genome.wustl.edu	37	2	216245755	216245755	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:216245755G>A	ENST00000359671.1	-	32	5205	c.4940C>T	c.(4939-4941)tCc>tTc	p.S1647F	FN1_ENST00000346544.3_Missense_Mutation_p.S1647F|FN1_ENST00000357009.2_Missense_Mutation_p.S1647F|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000421182.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.S1647F|FN1_ENST00000443816.1_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.S1647F|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.S1738F|FN1_ENST00000323926.6_Missense_Mutation_p.S1738F|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.S1647F			P02751	FINC_HUMAN	fibronectin 1	1647	Fibronectin type-III 12; extra domain. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AATTTTGATGGAATCGACATC	0.463																																																	0													116.0	106.0	109.0					2																	216245755		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4940C>T	2.37:g.216245755G>A	ENSP00000352696:p.Ser1647Phe		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.S1738F	ENST00000359671.1	37	c.5213		2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758604	0.89843	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046	T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.85414	0.5691	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	0.999;0.981;0.999;1.0;0.999;0.999	D	0.87195	0.2237	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1647;1738;1647;1647;1648;1738	F8W7G7;P02751-7;E9PE77;P02751-3;E7ERA1;P02751-15	.;.;.;.;.;.	F	1738;1647;1738;1648;1647;1647;1647;1647;1647	ENSP00000323534:S1738F;ENSP00000338200:S1647F;ENSP00000346839:S1738F;ENSP00000352696:S1647F;ENSP00000265312:S1647F;ENSP00000273049:S1647F;ENSP00000349509:S1647F;ENSP00000410422:S1647F	ENSP00000265313:S1648F	S	-	2	0	FN1	215954000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.463	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0.00	37	0	G	NM_212476		216245755	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
FN3K	64122	genome.wustl.edu	37	17	80708330	80708330	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:80708330T>C	ENST00000300784.7	+	6	691	c.629T>C	c.(628-630)gTc>gCc	p.V210A	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000397466.2_5'Flank|TBCD_ENST00000355528.4_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	210					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTAGAGATTGTCCCCGCGTTG	0.592																																					Melanoma(10;391 597 14592 32548 32749)												0													112.0	99.0	103.0					17																	80708330		2203	4300	6503	SO:0001583	missense	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.629T>C	17.37:g.80708330T>C	ENSP00000300784:p.Val210Ala			Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.V210A	ENST00000300784.7	37	c.629	CCDS11818.1	17	.	.	.	.	.	.	.	.	.	.	t	12.65	2.000298	0.35320	.	.	ENSG00000167363	ENST00000300784	T	0.39997	1.05	3.96	3.96	0.45880	Protein kinase-like domain (1);	0.188956	0.45867	D	0.000333	T	0.23926	0.0579	N	0.16833	0.445	0.51767	D	0.999935	B	0.12013	0.005	B	0.23018	0.043	T	0.06917	-1.0800	9	.	.	.	-0.0021	7.6991	0.28613	0.0:0.0988:0.0:0.9012	.	210	Q9H479	FN3K_HUMAN	A	210	ENSP00000300784:V210A	.	V	+	2	0	FN3K	78301619	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.903000	0.56318	1.754000	0.51921	0.473000	0.43528	GTC	FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.592	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	-	0.00	40	0	T	NM_022158		80708330	+1	tier1	-	no_errors	ENST00000300784	ensembl	human	known	74_37	missense	36.51	40	23	SNP	1.000	C
FNDC3B	64778	genome.wustl.edu	37	3	171904580	171904580	+	Intron	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:171904580T>C	ENST00000336824.4	+	4	286				FNDC3B_ENST00000423424.1_3'UTR|FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron|FNDC3B_ENST00000421757.1_3'UTR|FNDC3B_ENST00000476794.1_3'UTR	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B						cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCTCTCATGTTTCATGATCTG	0.408																																																	0																																										SO:0001627	intron_variant	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.188-40081T>C	3.37:g.171904580T>C			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	RNA	SNP	-	NULL	ENST00000336824.4	37	NULL	CCDS3217.1	3																																																																																			FNDC3B	-	-	ENSG00000075420		0.408	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0.00	80	0	T	NM_022763		171904580	+1	tier1	-	no_errors	ENST00000476794	ensembl	human	known	74_37	rna	59.52	34	50	SNP	0.000	C
FOXN3	1112	genome.wustl.edu	37	14	89629287	89629287	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:89629287C>T	ENST00000345097.4	-	7	1060	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	FOXN3_ENST00000261302.5_Missense_Mutation_p.R315Q|FOXN3_ENST00000557258.1_Missense_Mutation_p.R293Q|FOXN3_ENST00000555353.1_Missense_Mutation_p.R293Q	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	315					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTCAGTCCGCATCCGGCA	0.612																																																	0													29.0	21.0	23.0					14																	89629287		2050	4090	6140	SO:0001583	missense	0				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.944G>A	14.37:g.89629287C>T	ENSP00000343288:p.Arg315Gln		Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R315Q	ENST00000345097.4	37	c.944	CCDS41977.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119536|4.119536	0.77323|0.77323	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000553840|ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	.|D;D;D;D	.|0.95342	.|-3.68;-3.68;-3.43;-3.43	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95978|0.95978	0.8690|0.8690	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.998;1.0	.|P;D	.|0.83275	.|0.656;0.996	D|D	0.93233|0.93233	0.6619|0.6619	5|10	.|0.12430	.|T	.|0.62	.|.	19.5865|19.5865	0.95492|0.95492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|315;293	.|O00409;O00409-2	.|FOXN3_HUMAN;.	R|Q	164|315;315;293;293	.|ENSP00000343288:R315Q;ENSP00000261302:R315Q;ENSP00000452005:R293Q;ENSP00000452227:R293Q	.|ENSP00000261302:R315Q	G|R	-|-	1|2	0|0	FOXN3|FOXN3	88699040|88699040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.050000|4.050000	0.57404|0.57404	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GGA|CGG	FOXN3	-	NULL	ENSG00000053254		0.612	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	-	0.00	52	0	C	NM_005197		89629287	-1	tier1	-	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	60.29	27	41	SNP	1.000	T
FOXS1	2307	genome.wustl.edu	37	20	30432968	30432968	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:30432968G>A	ENST00000375978.3	-	1	452	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	126					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GTGCCTTGGCGGGGCCCCGGG	0.706																																																	0													12.0	14.0	14.0					20																	30432968		2194	4280	6474	SO:0001819	synonymous_variant	0			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.378C>T	20.37:g.30432968G>A			Q96D28	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P126	ENST00000375978.3	37	c.378	CCDS13192.1	20																																																																																			FOXS1	-	NULL	ENSG00000179772		0.706	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2	-	0.00	62	0	G	NM_004118		30432968	-1	tier1	-	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	15.48	71	13	SNP	0.011	A
FRMD7	90167	genome.wustl.edu	37	X	131212756	131212756	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:131212756T>A	ENST00000298542.4	-	12	1464	c.1289A>T	c.(1288-1290)aAc>aTc	p.N430I	FRMD7_ENST00000464296.1_Missense_Mutation_p.N415I|FRMD7_ENST00000370879.1_Missense_Mutation_p.N310I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	430					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGGATCAGGGTTAGGATTGGG	0.438																																																	0													155.0	153.0	154.0					X																	131212756		2203	4300	6503	SO:0001583	missense	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1289A>T	X.37:g.131212756T>A	ENSP00000298542:p.Asn430Ile		C0LLJ3|Q5JX99	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.N430I	ENST00000298542.4	37	c.1289	CCDS35397.1	X	.	.	.	.	.	.	.	.	.	.	T	1.033	-0.681352	0.03353	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86297	-2.1;-1.75;-1.87	3.17	-1.02	0.10135	.	0.394529	0.24200	N	0.040621	T	0.71358	0.3330	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.14023	0.01;0.005	T	0.59958	-0.7356	10	0.45353	T	0.12	.	11.4861	0.50354	0.0:0.0:0.6252:0.3748	.	415;430	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	I	310;430;415	ENSP00000359916:N310I;ENSP00000298542:N430I;ENSP00000417996:N415I	ENSP00000298542:N430I	N	-	2	0	FRMD7	131040437	0.001000	0.12720	0.000000	0.03702	0.243000	0.25628	0.091000	0.15046	-0.268000	0.09312	0.486000	0.48141	AAC	FRMD7	-	NULL	ENSG00000165694		0.438	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	-	0.00	21	0	T	NM_194277		131212756	-1	tier1	-	no_errors	ENST00000298542	ensembl	human	known	74_37	missense	73.33	4	11	SNP	0.000	A
FRY	10129	genome.wustl.edu	37	13	32753153	32753153	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:32753153G>T	ENST00000380250.3	+	22	3350	c.2854G>T	c.(2854-2856)Gtg>Ttg	p.V952L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	952						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGATGGTACAGTGAGCTACGA	0.403																																																	0													65.0	63.0	63.0					13																	32753153		1886	4129	6015	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2854G>T	13.37:g.32753153G>T	ENSP00000369600:p.Val952Leu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V952L	ENST00000380250.3	37	c.2854	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025058	0.19433	.	.	ENSG00000073910	ENST00000380250	T	0.48201	0.82	6.05	5.2	0.72013	.	0.193143	0.44097	D	0.000500	T	0.34919	0.0914	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10359	-1.0633	10	0.10636	T	0.68	.	11.1192	0.48279	0.188:0.0:0.812:0.0	.	952	Q5TBA9	FRY_HUMAN	L	952	ENSP00000369600:V952L	ENSP00000369600:V952L	V	+	1	0	FRY	31651153	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.864000	0.48404	2.878000	0.98634	0.650000	0.86243	GTG	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0.00	67	0	G	NM_023037		32753153	+1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	10.84	74	9	SNP	0.957	T
FSTL3	10272	genome.wustl.edu	37	19	677855	677855	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:677855T>A	ENST00000166139.4	+	2	199	c.167T>A	c.(166-168)gTc>gAc	p.V56D		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	56	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACTGATGTCACCCGGGCC	0.662			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													72.0	64.0	67.0					19																	677855		2203	4300	6503	SO:0001583	missense	0			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.167T>A	19.37:g.677855T>A	ENSP00000166139:p.Val56Asp		A8K7E3	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.V56D	ENST00000166139.4	37	c.167	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330871	0.60853	.	.	ENSG00000070404	ENST00000166139	D	0.89415	-2.51	4.31	4.31	0.51392	Matrix fibril-associated (1);TGF-beta binding (1);	0.075206	0.53938	D	0.000057	D	0.91925	0.7443	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	P	0.59056	0.851	D	0.90447	0.4436	10	0.27785	T	0.31	-16.0725	12.658	0.56797	0.0:0.0:0.0:1.0	.	56	O95633	FSTL3_HUMAN	D	56	ENSP00000166139:V56D	ENSP00000166139:V56D	V	+	2	0	FSTL3	628855	1.000000	0.71417	0.020000	0.16555	0.045000	0.14185	7.368000	0.79567	1.572000	0.49736	0.379000	0.24179	GTC	FSTL3	-	superfamily_TB_dom	ENSG00000070404		0.662	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	-	0.00	63	0	T	NM_005860		677855	+1	tier1	-	no_errors	ENST00000166139	ensembl	human	known	74_37	missense	73.13	18	49	SNP	1.000	A
GALNT7	51809	genome.wustl.edu	37	4	174216555	174216555	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:174216555A>C	ENST00000265000.4	+	4	846	c.763A>C	c.(763-765)Aaa>Caa	p.K255Q	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Missense_Mutation_p.K255Q	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	255	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AGAACACTTAAAAGAAAAACT	0.318																																																	0													68.0	77.0	74.0					4																	174216555		2201	4299	6500	SO:0001583	missense	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.763A>C	4.37:g.174216555A>C	ENSP00000265000:p.Lys255Gln		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K255Q	ENST00000265000.4	37	c.763	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.45|15.45	2.836316|2.836316	0.50951|0.50951	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613|ENST00000505308	T;T|.	0.60171|.	0.21;0.21|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62684|.	0.2448|.	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.31227|.	0.314;0.079|.	B;B|.	0.37387|.	0.248;0.068|.	T|.	0.60791|.	-0.7193|.	10|.	0.49607|.	T|.	0.09|.	.|.	13.1051|13.1051	0.59244|0.59244	0.8667:0.1333:0.0:0.0|0.8667:0.1333:0.0:0.0	.|.	32;255|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	Q|Y	255;255;32|51	ENSP00000265000:K255Q;ENSP00000427050:K255Q|.	ENSP00000265000:K255Q|.	K|X	+|+	1|3	0|2	GALNT7|GALNT7	174453130|174453130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	6.483000|6.483000	0.73617|0.73617	2.201000|2.201000	0.70794|0.70794	0.533000|0.533000	0.62120|0.62120	AAA|TAA	GALNT7	-	pfam_Glyco_trans_2	ENSG00000109586		0.318	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	-	0.00	72	0	A	NM_017423		174216555	+1	tier1	-	no_errors	ENST00000265000	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	C
GALNT8	26290	genome.wustl.edu	37	12	4854630	4854630	+	Missense_Mutation	SNP	G	G	A	rs200878740		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:4854630G>A	ENST00000252318.2	+	5	1233	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	299					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGGAGGACCGCACTGTGATT	0.483																																					Colon(108;631 1558 7270 20097 39846)												0													128.0	104.0	112.0					12																	4854630		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.896G>A	12.37:g.4854630G>A	ENSP00000252318:p.Arg299His		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R299H	ENST00000252318.2	37	c.896	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934756	0.34189	.	.	ENSG00000130035	ENST00000252318	T	0.59638	0.25	4.11	-3.31	0.04988	Glycosyl transferase, family 2 (1);	0.287921	0.33127	N	0.005258	T	0.42200	0.1192	L	0.49126	1.545	0.26078	N	0.981139	B	0.30824	0.296	B	0.21360	0.034	T	0.28332	-1.0047	10	0.46703	T	0.11	.	10.4634	0.44594	0.6247:0.0:0.3753:0.0	.	299	Q9NY28	GALT8_HUMAN	H	299	ENSP00000252318:R299H	ENSP00000252318:R299H	R	+	2	0	GALNT8	4724891	0.014000	0.17966	0.779000	0.31741	0.876000	0.50452	1.362000	0.34148	-0.577000	0.05967	-0.424000	0.05967	CGC	GALNT8	-	pfam_Glyco_trans_2	ENSG00000130035		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	60	0	G	NM_017417		4854630	+1	tier1	rs200878740	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.899	A
GAPVD1	26130	genome.wustl.edu	37	9	128112613	128112613	+	Silent	SNP	G	G	T	rs371619035		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:128112613G>T	ENST00000495955.1	+	22	3683	c.3393G>T	c.(3391-3393)gcG>gcT	p.A1131A	GAPVD1_ENST00000394104.2_Silent_p.A1131A|GAPVD1_ENST00000394105.2_Silent_p.A1140A|GAPVD1_ENST00000394083.2_Silent_p.A1065A|GAPVD1_ENST00000265956.4_Silent_p.A1105A|GAPVD1_ENST00000470056.1_Silent_p.A1086A|GAPVD1_ENST00000312123.9_Silent_p.A1092A|GAPVD1_ENST00000297933.6_Silent_p.A1113A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1131					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTGCTCTGCGGACTCTGTTG	0.393																																																	0													105.0	108.0	107.0					9																	128112613		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3393G>T	9.37:g.128112613G>T			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.A1140	ENST00000495955.1	37	c.3420		9																																																																																			GAPVD1	-	NULL	ENSG00000165219		0.393	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	-	0.00	52	0	G			128112613	+1	tier1	-	no_errors	ENST00000394105	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T
GAS7	8522	genome.wustl.edu	37	17	9837516	9837516	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:9837516G>A	ENST00000432992.2	-	9	1012	c.852C>T	c.(850-852)gaC>gaT	p.D284D	GAS7_ENST00000585266.1_Silent_p.D224D|GAS7_ENST00000579158.1_Silent_p.D220D|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Silent_p.D220D|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000323816.4_Silent_p.D224D|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.D144D|GAS7_ENST00000542249.1_Silent_p.D220D	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	284	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTTCTGCTTCGTCCGCCAGGC	0.537			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													112.0	82.0	92.0					17																	9837516		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.852C>T	17.37:g.9837516G>A			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom	p.D284	ENST00000432992.2	37	c.852	CCDS11152.1	17																																																																																			GAS7	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	ENSG00000007237		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	-	0.00	44	0	G	NM_003644, NM_201432, NM_201433		9837516	-1	tier1	-	no_errors	ENST00000432992	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.672	A
GBF1	8729	genome.wustl.edu	37	10	104129939	104129939	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:104129939C>A	ENST00000369983.3	+	27	3605	c.3345C>A	c.(3343-3345)gaC>gaA	p.D1115E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1115					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCAATGTGACCCAGAAAAAA	0.498																																																	0													208.0	229.0	222.0					10																	104129939		2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3345C>A	10.37:g.104129939C>A	ENSP00000359000:p.Asp1115Glu		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.D1115E	ENST00000369983.3	37	c.3345	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754365	0.31046	.	.	ENSG00000107862	ENST00000369983	T	0.68181	-0.31	5.46	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	L	0.44542	1.39	0.47584	D	0.999465	P;P;P	0.49961	0.734;0.558;0.93	B;B;P	0.46110	0.218;0.165;0.504	T	0.50701	-0.8797	10	0.10636	T	0.68	-22.1952	6.8885	0.24216	0.0:0.45:0.0:0.55	.	1115;1115;1115	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	E	1115	ENSP00000359000:D1115E	ENSP00000359000:D1115E	D	+	3	2	GBF1	104119929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.968000	0.29357	0.384000	0.24942	0.655000	0.94253	GAC	GBF1	-	NULL	ENSG00000107862		0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1		0.00	51	0	C			104129939	+1			no_errors	ENST00000369983	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
RTFDC1	51507	genome.wustl.edu	37	20	55071958	55071958	+	Intron	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:55071958T>C	ENST00000023939.4	+	5	584				RTFDC1_ENST00000357348.5_Intron|RTFDC1_ENST00000395881.3_Intron|GCNT7_ENST00000243913.4_Missense_Mutation_p.Q114R	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1																		GTGCAATGGTTGGATTACTCC	0.363																																																	0													125.0	99.0	107.0					20																	55071958		692	1591	2283	SO:0001627	intron_variant	0			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.477+12713T>C	20.37:g.55071958T>C			E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.Q114R	ENST00000023939.4	37	c.341	CCDS13453.1	20	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628366	0.46944	.	.	ENSG00000124091	ENST00000243913	T	0.11169	2.8	5.48	4.36	0.52297	.	0.216454	0.48767	D	0.000167	T	0.30479	0.0766	M	0.80982	2.52	0.41386	D	0.987586	D	0.62365	0.991	P	0.62089	0.898	T	0.04664	-1.0935	10	0.42905	T	0.14	.	12.6242	0.56620	0.0:0.0:0.1434:0.8566	.	236	Q6ZNI0	GCNT7_HUMAN	R	114	ENSP00000243913:Q114R	ENSP00000243913:Q114R	Q	-	2	0	GCNT7	54505365	1.000000	0.71417	0.011000	0.14972	0.323000	0.28346	4.879000	0.63100	0.989000	0.38761	0.528000	0.53228	CAA	GCNT7	-	pfam_Glyco_trans_14	ENSG00000124091		0.363	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT7	HGNC	protein_coding	OTTHUMT00000079817.2	-	0.00	61	0	T	NM_016407		55071958	-1	tier1	-	no_errors	ENST00000243913	ensembl	human	putative	74_37	missense	7.14	52	4	SNP	0.998	C
GCSAM	257144	genome.wustl.edu	37	3	111842603	111842603	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:111842603G>C	ENST00000308910.4	-	6	420	c.236C>G	c.(235-237)aCc>aGc	p.T79S	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.T81S	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	79					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CTCTGAGTAGGTCTGGTCAAC	0.463																																																	0													128.0	104.0	112.0					3																	111842603		2203	4300	6503	SO:0001583	missense	0			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.236C>G	3.37:g.111842603G>C	ENSP00000309487:p.Thr79Ser		C9JD17|C9JUG6	Missense_Mutation	SNP	NULL	p.T79S	ENST00000308910.4	37	c.236	CCDS2964.1	3	.	.	.	.	.	.	.	.	.	.	G	4.120	0.020425	0.08006	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.35	-4.29	0.03721	.	0.967147	0.08521	N	0.933477	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.30001	-0.9993	9	0.07813	T	0.8	-0.9586	2.4898	0.04607	0.174:0.4758:0.1626:0.1877	.	79	Q8N6F7	GCET2_HUMAN	S	79;81;64;62;62	.	ENSP00000309487:T79S	T	-	2	0	GCET2	113325293	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-2.700000	0.00824	-0.932000	0.03742	-0.140000	0.14226	ACC	GCSAM	-	NULL	ENSG00000174500		0.463	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GCSAM	HGNC	protein_coding	OTTHUMT00000353967.2		0.00	28	0	G	NM_152785		111842603	-1			no_errors	ENST00000308910	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.000	C
GDF5	8200	genome.wustl.edu	37	20	34022031	34022031	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:34022031C>T	ENST00000374372.1	-	4	1685	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	GDF5OS_ENST00000374375.1_Silent_p.F25F|GDF5_ENST00000374369.3_Silent_p.K394K			P43026	GDF5_HUMAN	growth differentiation factor 5	394					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTAAGGTTCTTGCTGGGTC	0.602																																																	0													98.0	95.0	96.0					20																	34022031		2203	4300	6503	SO:0001819	synonymous_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1182G>A	20.37:g.34022031C>T			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.K394	ENST00000374372.1	37	c.1182	CCDS13254.1	20																																																																																			GDF5	-	NULL	ENSG00000125965		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	-	0.00	44	0	C			34022031	-1	tier1	-	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	20.00	24	6	SNP	1.000	T
GPATCH8	23131	genome.wustl.edu	37	17	42474987	42474987	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:42474987G>C	ENST00000591680.1	-	8	4488	c.4458C>G	c.(4456-4458)caC>caG	p.H1486Q	GPATCH8_ENST00000434000.1_Missense_Mutation_p.H1408Q	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1486							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGAAGATGGGGTGAAGTAGTG	0.602																																																	0													83.0	72.0	76.0					17																	42474987		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4458C>G	17.37:g.42474987G>C	ENSP00000467556:p.His1486Gln		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.H1486Q	ENST00000591680.1	37	c.4458	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872438	0.33069	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15952	2.38	5.34	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	N	0.25890	0.77	0.49798	D	0.999824	D	0.76494	0.999	D	0.83275	0.996	T	0.03221	-1.1059	10	0.15066	T	0.55	-13.4084	13.5969	0.61996	0.0762:0.0:0.9238:0.0	.	1486	Q9UKJ3	GPTC8_HUMAN	Q	1486;1408	ENSP00000395016:H1408Q	ENSP00000335486:H1486Q	H	-	3	2	GPATCH8	39830513	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.699000	0.47077	1.268000	0.44264	0.313000	0.20887	CAC	GPATCH8	-	NULL	ENSG00000186566		0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0.00	47	0	G	NM_001002909		42474987	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	57.14	24	32	SNP	1.000	C
GPC6	10082	genome.wustl.edu	37	13	94482410	94482410	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:94482410T>G	ENST00000377047.4	+	3	938	c.323T>G	c.(322-324)tTt>tGt	p.F108C	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	108					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCTGCAGAATTTTTCCGAGAG	0.383																																																	0													31.0	32.0	32.0					13																	94482410		2203	4298	6501	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.323T>G	13.37:g.94482410T>G	ENSP00000366246:p.Phe108Cys		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.F108C	ENST00000377047.4	37	c.323	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300884	0.81136	.	.	ENSG00000183098	ENST00000377047	T	0.53423	0.62	5.53	5.53	0.82687	.	0.180441	0.49305	D	0.000149	T	0.74268	0.3694	M	0.90082	3.085	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.78658	-0.2118	10	0.48119	T	0.1	.	15.9539	0.79865	0.0:0.0:0.0:1.0	.	108;108	B4E2M1;Q9Y625	.;GPC6_HUMAN	C	108	ENSP00000366246:F108C	ENSP00000366246:F108C	F	+	2	0	GPC6	93280411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.240000	0.73641	0.528000	0.53228	TTT	GPC6	-	pfam_Glypican	ENSG00000183098		0.383	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0.00	75	0	T	NM_005708		94482410	+1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	G
GRAMD1B	57476	genome.wustl.edu	37	11	123489864	123489864	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:123489864A>G	ENST00000529750.1	+	19	2386	c.2059A>G	c.(2059-2061)Aag>Gag	p.K687E	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K687E|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K374E|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K694E	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	687						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GTCCCAACAAAAGTACCACGA	0.527																																																	0													56.0	52.0	53.0					11																	123489864		1927	4123	6050	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.2059A>G	11.37:g.123489864A>G	ENSP00000436500:p.Lys687Glu		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.K687E	ENST00000529750.1	37	c.2059	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363315	0.61513	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.45668	1.93;1.92;1.92;1.92;0.89	4.79	4.79	0.61399	.	0.127081	0.49916	D	0.000131	T	0.31040	0.0784	L	0.29908	0.895	0.40006	D	0.97522	B;P;B;B	0.43287	0.354;0.802;0.278;0.382	B;B;B;B	0.36464	0.101;0.225;0.084;0.146	T	0.20907	-1.0261	10	0.48119	T	0.1	.	14.6439	0.68745	1.0:0.0:0.0:0.0	.	643;374;687;694	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	E	694;694;687;687;647;374	ENSP00000402457:K694E;ENSP00000325628:K687E;ENSP00000436500:K687E;ENSP00000432987:K647E;ENSP00000388458:K374E	ENSP00000325628:K687E	K	+	1	0	GRAMD1B	122995074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.558000	0.73942	1.916000	0.55485	0.459000	0.35465	AAG	GRAMD1B	-	NULL	ENSG00000023171		0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0.00	37	0	A	XM_370660		123489864	+1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	G
GRIA3	2892	genome.wustl.edu	37	X	122551518	122551518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:122551518delA	ENST00000371251.1	+	11	1818	c.1766delA	c.(1765-1767)gaafs	p.E589fs	GRIA3_ENST00000264357.5_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000542149.1_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000371256.5_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000541091.1_Frame_Shift_Del_p.E573fs			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	589					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AACAATGAAGAACCTCGTGAC	0.428																																																	0													237.0	212.0	220.0					X																	122551518		2203	4300	6503	SO:0001589	frameshift_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1766delA	X.37:g.122551518delA	ENSP00000360297:p.Glu589fs		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Frame_Shift_Del	DEL	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E589fs	ENST00000371251.1	37	c.1766	CCDS14604.1	X																																																																																			GRIA3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000125675		0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1		0.00	30	0	A	NM_000828		122551518	+1	tier1		no_errors	ENST00000264357	ensembl	human	known	74_37	frame_shift_del	8.89	41	4	DEL	1.000	-
GRM5	2915	genome.wustl.edu	37	11	88583156	88583156	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:88583156A>C	ENST00000305447.4	-	2	978	c.829T>G	c.(829-831)Ttc>Gtc	p.F277V	GRM5_ENST00000305432.5_Missense_Mutation_p.F277V|GRM5_ENST00000393297.1_Missense_Mutation_p.F277V|GRM5_ENST00000418177.2_Missense_Mutation_p.F277V|GRM5_ENST00000455756.2_Missense_Mutation_p.F277V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	277					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCCTCACAGAAGCAGGCCACC	0.532																																																	0													67.0	67.0	67.0					11																	88583156		2201	4299	6500	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.829T>G	11.37:g.88583156A>C	ENSP00000306138:p.Phe277Val		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.F277V	ENST00000305447.4	37	c.829	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575111	0.86542	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.91459	3.21	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.95033	0.8171	9	.	.	.	.	15.4226	0.75025	1.0:0.0:0.0:0.0	.	277;277	P41594-2;P41594	.;GRM5_HUMAN	V	277	ENSP00000402912:F277V;ENSP00000405690:F277V;ENSP00000305905:F277V;ENSP00000306138:F277V;ENSP00000376975:F277V	.	F	-	1	0	GRM5	88222804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.545000	0.90657	2.046000	0.60703	0.460000	0.39030	TTC	GRM5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000168959		0.532	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	-	0.00	80	0	A	NM_000842		88583156	-1	tier1	-	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	41.56	45	32	SNP	1.000	C
GRIK4	2900	genome.wustl.edu	37	11	120833225	120833225	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:120833225G>T	ENST00000527524.2	+	18	2388	c.2101G>T	c.(2101-2103)Gtg>Ttg	p.V701L	GRIK4_ENST00000438375.2_Missense_Mutation_p.V701L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	701					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCAGCCCAGCGTGTTCGTGAA	0.502																																																	0													76.0	67.0	70.0					11																	120833225		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2101G>T	11.37:g.120833225G>T	ENSP00000435648:p.Val701Leu		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V701L	ENST00000527524.2	37	c.2101	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.509480	0.96386	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.12672	2.66;2.66	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	T	0.01639	-1.1306	10	0.56958	D	0.05	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	701;701	A6H8K8;Q16099	.;GRIK4_HUMAN	L	701	ENSP00000435648:V701L;ENSP00000404063:V701L	ENSP00000404063:V701L	V	+	1	0	GRIK4	120338435	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.869000	0.99810	2.676000	0.91093	0.655000	0.94253	GTG	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0.00	49	0	G	NM_014619		120833225	+1			no_errors	ENST00000527524	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657293	72657293	+	RNA	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:72657293T>C	ENST00000425256.1	-	0	2618									GTF2I repeat domain containing 2 pseudogene 1																		ccaggagttttctctccatcg	0.448																																																	0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657293T>C				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.448	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	-	0.00	117	0	T	NR_002164		72657293	-1	tier1	-	no_errors	ENST00000425256	ensembl	human	known	74_37	rna	25.00	78	26	SNP	0.001	C
HBG2	3048	genome.wustl.edu	37	11	5274579	5274579	+	Silent	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:5274579G>C	ENST00000380259.2	-	8	1612	c.372C>G	c.(370-372)acC>acG	p.T124T	HBG2_ENST00000380252.1_Silent_p.T114T|HBG2_ENST00000336906.4_Silent_p.T124T			P69892	HBG2_HUMAN	hemoglobin, gamma G	124					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACCTCAGGGGTGAATTCTT	0.517																																																	0													74.0	65.0	68.0					11																	5274579		2201	4298	6499	SO:0001819	synonymous_variant	0			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.372C>G	11.37:g.5274579G>C			A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.T124	ENST00000380259.2	37	c.372	CCDS7755.1	11																																																																																			HBG2	-	superfamily_Globin-like,pfscan_Globin,prints_Myoglobin	ENSG00000196565		0.517	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	HGNC	protein_coding	OTTHUMT00000142967.2	-	0.00	62	0	G	NM_000184		5274579	-1	tier1	-	no_errors	ENST00000336906	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.625	C
HDAC4	9759	genome.wustl.edu	37	2	240085519	240085519	+	Silent	SNP	G	G	A	rs541806713	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:240085519G>A	ENST00000345617.3	-	6	1382	c.591C>T	c.(589-591)agC>agT	p.S197S	HDAC4_ENST00000541256.1_Silent_p.S166S|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	197	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S197S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGAGGGTCGCTGGAAATGC	0.567													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17360	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	urinary_tract(1)											129.0	129.0	129.0					2																	240085519		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.591C>T	2.37:g.240085519G>A			Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S197	ENST00000345617.3	37	c.591	CCDS2529.1	2																																																																																			HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.567	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0.00	38	0	G	NM_006037		240085519	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.156	A
HEATR1	55127	genome.wustl.edu	37	1	236719125	236719125	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236719125A>C	ENST00000366582.3	-	39	5743	c.5629T>G	c.(5629-5631)Ttc>Gtc	p.F1877V	HEATR1_ENST00000366581.2_Missense_Mutation_p.F1796V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1877					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGGCTCGGAAGTCCAGGGCT	0.493																																																	0													121.0	114.0	117.0					1																	236719125		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5629T>G	1.37:g.236719125A>C	ENSP00000355541:p.Phe1877Val		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.F1877V	ENST00000366582.3	37	c.5629	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554242	0.86231	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.44482	0.92;0.92	4.93	4.93	0.64822	BP28, C-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.051625	0.85682	D	0.000000	T	0.58878	0.2153	M	0.62088	1.915	0.80722	D	1	D;D	0.65815	0.987;0.995	P;P	0.62298	0.9;0.812	T	0.63216	-0.6687	10	0.72032	D	0.01	.	14.7392	0.69440	1.0:0.0:0.0:0.0	.	1796;1877	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	1877;1796	ENSP00000355541:F1877V;ENSP00000355540:F1796V	ENSP00000355540:F1796V	F	-	1	0	HEATR1	234785748	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.077000	0.94016	2.074000	0.62210	0.374000	0.22700	TTC	HEATR1	-	pfam_BP28_C_dom,superfamily_ARM-type_fold	ENSG00000119285		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	0.00	31	0	A	XM_375853		236719125	-1	tier1	-	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	C
HECA	51696	genome.wustl.edu	37	6	139487871	139487871	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:139487871G>T	ENST00000367658.2	+	2	1007	c.722G>T	c.(721-723)cGc>cTc	p.R241L	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	241					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GACCTCCCCCGCCGGCATTCC	0.677																																																	0													12.0	15.0	14.0					6																	139487871		2171	4264	6435	SO:0001583	missense	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.722G>T	6.37:g.139487871G>T	ENSP00000356630:p.Arg241Leu			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.R241L	ENST00000367658.2	37	c.722	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986564	0.74589	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.24	0.50183	.	0.110587	0.64402	N	0.000006	T	0.35335	0.0928	L	0.27053	0.805	0.80722	D	1	B	0.21147	0.052	B	0.19148	0.024	T	0.36456	-0.9747	9	0.59425	D	0.04	.	14.8645	0.70404	0.0:0.0:0.8554:0.1446	.	241	Q9UBI9	HDC_HUMAN	L	241	.	ENSP00000356630:R241L	R	+	2	0	HECA	139529564	1.000000	0.71417	0.206000	0.23566	0.857000	0.48899	9.136000	0.94489	1.335000	0.45486	0.655000	0.94253	CGC	HECA	-	NULL	ENSG00000112406		0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1		0.00	36	0	G	NM_016217		139487871	+1			no_errors	ENST00000367658	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	T
HERC1	8925	genome.wustl.edu	37	15	63908868	63908868	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:63908868G>T	ENST00000443617.2	-	75	13789	c.13702C>A	c.(13702-13704)Cct>Act	p.P4568T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4568	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGGCAGAAGGGTTAAAAAGG	0.378																																																	0													44.0	43.0	43.0					15																	63908868		1814	4078	5892	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13702C>A	15.37:g.63908868G>T	ENSP00000390158:p.Pro4568Thr		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P4568T	ENST00000443617.2	37	c.13702	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572041	0.86542	.	.	ENSG00000103657	ENST00000443617	D	0.82344	-1.6	5.07	5.07	0.68467	HECT (4);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93297	0.6673	10	0.62326	D	0.03	.	18.8416	0.92186	0.0:0.0:1.0:0.0	.	4568	Q15751	HERC1_HUMAN	T	4568	ENSP00000390158:P4568T	ENSP00000390158:P4568T	P	-	1	0	HERC1	61695921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.929000	0.87595	2.505000	0.84491	0.655000	0.94253	CCT	HERC1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000103657		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1		0.00	69	0	G	NM_003922		63908868	-1			no_errors	ENST00000443617	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
HILPDA	29923	genome.wustl.edu	37	7	128097964	128097964	+	3'UTR	DEL	A	A	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:128097964delA	ENST00000257696.4	+	0	843				HILPDA_ENST00000435296.2_3'UTR|HILPDA_ENST00000481454.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|RP11-155G14.6_ENST00000493710.1_RNA	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HLPDA_HUMAN	hypoxia inducible lipid droplet-associated						autocrine signaling (GO:0035425)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of lipid storage (GO:0010884)|response to stress (GO:0006950)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|secretory granule (GO:0030141)	receptor binding (GO:0005102)										actccatctcaaaaaaaaaag	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF144755	CCDS5802.1	7q32.1	2011-11-02	2011-11-02	2011-11-02	ENSG00000135245	ENSG00000135245			28859	protein-coding gene	gene with protein product	"""hypoxia inducible gene 2"""		"""chromosome 7 open reading frame 68"""	C7orf68		10690527, 15930302	Standard	NM_001098786		Approved	FLJ21076, HIG-2, HIG2	uc010lli.3	Q9Y5L2	OTTHUMG00000157712	ENST00000257696.4:c.*450A>-	7.37:g.128097964delA			A4D0Z5|Q52LY5|Q53HJ7	RNA	DEL	-	NULL	ENST00000257696.4	37	NULL	CCDS5802.1	7																																																																																			HILPDA	-	-	ENSG00000135245		0.527	HILPDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILPDA	HGNC	protein_coding	OTTHUMT00000349450.1		0.00	23	0	A	NM_013332		128097964	+1	tier1		no_errors	ENST00000466473	ensembl	human	known	74_37	rna	10.71	25	3	DEL	0.015	-
HOXC12	3228	genome.wustl.edu	37	12	54350293	54350293	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:54350293C>T	ENST00000243103.3	+	2	888	c.792C>T	c.(790-792)aaC>aaT	p.N264N	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	264					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						GGTTTCAGAACCGGAGAATGA	0.537																																																	0													95.0	104.0	101.0					12																	54350293		2203	4300	6503	SO:0001819	synonymous_variant	0			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.792C>T	12.37:g.54350293C>T			Q9BXJ6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.N264	ENST00000243103.3	37	c.792	CCDS8866.1	12																																																																																			HOXC12	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000123407		0.537	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2		0.00	57	0	C	NM_173860		54350293	+1			no_errors	ENST00000243103	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
HSPA12A	259217	genome.wustl.edu	37	10	118460528	118460528	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118460528G>A	ENST00000369209.3	-	4	471	c.367C>T	c.(367-369)Cat>Tat	p.H123Y		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	123						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCAGGTCATGGTAAAAGTCC	0.567																																																	0													84.0	92.0	89.0					10																	118460528		2094	4227	6321	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.367C>T	10.37:g.118460528G>A	ENSP00000358211:p.His123Tyr			Missense_Mutation	SNP	NULL	p.H123Y	ENST00000369209.3	37	c.367	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884117	0.91814	.	.	ENSG00000165868	ENST00000369209	T	0.03745	3.82	5.62	5.62	0.85841	.	0.044901	0.85682	D	0.000000	T	0.15739	0.0379	M	0.76002	2.32	0.80722	D	1	D	0.53619	0.961	P	0.62298	0.9	T	0.16748	-1.0392	10	0.12430	T	0.62	.	19.6599	0.95861	0.0:0.0:1.0:0.0	.	123	O43301	HS12A_HUMAN	Y	123	ENSP00000358211:H123Y	ENSP00000358211:H123Y	H	-	1	0	HSPA12A	118450518	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.749000	0.98871	2.652000	0.90054	0.655000	0.94253	CAT	HSPA12A	-	NULL	ENSG00000165868		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0.00	40	0	G	NM_025015		118460528	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A
HTR1E	3354	genome.wustl.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	rs200719637		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											108.0	94.0	99.0					6																	87725488		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.V146I	ENST00000305344.5	37	c.436	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168830		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0.00	27	0	G	NM_000865		87725488	+1	tier1	rs200719637	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.996	A
IL12RB2	3595	genome.wustl.edu	37	1	67816572	67816572	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:67816572C>G	ENST00000262345.1	+	9	1698	c.1058C>G	c.(1057-1059)gCa>gGa	p.A353G	IL12RB2_ENST00000371000.1_Missense_Mutation_p.A353G|IL12RB2_ENST00000544434.1_Missense_Mutation_p.A353G|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A353G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	353	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GTCTCAGAGGCAAGAGGAAAA	0.483																																																	0													92.0	83.0	86.0					1																	67816572		2203	4300	6503	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1058C>G	1.37:g.67816572C>G	ENSP00000262345:p.Ala353Gly		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A353G	ENST00000262345.1	37	c.1058	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085820	0.76642	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.53640	0.61;0.61;0.61;1.06	5.36	5.36	0.76844	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.099708	0.64402	D	0.000002	T	0.65544	0.2701	M	0.85859	2.78	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.96;0.997;0.994;0.998	T	0.66416	-0.5929	10	0.41790	T	0.15	-21.6212	14.9705	0.71229	0.0:1.0:0.0:0.0	.	353;353;353;353	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	G	353	ENSP00000262345:A353G;ENSP00000360039:A353G;ENSP00000445276:A353G;ENSP00000442443:A353G	ENSP00000262345:A353G	A	+	2	0	IL12RB2	67589160	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.256000	0.51492	2.685000	0.91497	0.655000	0.94253	GCA	IL12RB2	-	superfamily_Fibronectin_type3	ENSG00000081985		0.483	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2		0.00	24	0	C	NM_001559		67816572	+1			no_errors	ENST00000262345	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	G
IL17RE	132014	genome.wustl.edu	37	3	9948053	9948053	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:9948053C>G	ENST00000383814.3	+	4	379	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E	IL17RE_ENST00000454190.2_Missense_Mutation_p.Q92E|IL17RE_ENST00000421412.1_Missense_Mutation_p.Q125E|IL17RE_ENST00000295980.3_Missense_Mutation_p.Q92E	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	92					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CACAGGTCTTCAACGGGGCCT	0.483																																																	0													60.0	60.0	60.0					3																	9948053		2203	4300	6503	SO:0001583	missense	0			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.274C>G	3.37:g.9948053C>G	ENSP00000373325:p.Gln92Glu		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	pfam_SEFIR	p.Q125E	ENST00000383814.3	37	c.373	CCDS2589.1	3	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123939	0.20959	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.43	1.52	0.23074	.	0.937844	0.08960	N	0.868830	T	0.10637	0.0260	L	0.48642	1.525	0.09310	N	1	B;B;B	0.29646	0.034;0.253;0.049	B;B;B	0.28232	0.037;0.087;0.024	T	0.38243	-0.9670	10	0.26408	T	0.33	-0.5855	2.2991	0.04158	0.1565:0.5241:0.1515:0.1679	.	92;92;92	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	E	125;92;92;92;52	ENSP00000404916:Q125E;ENSP00000295980:Q92E;ENSP00000373325:Q92E;ENSP00000388086:Q92E;ENSP00000400768:Q52E	ENSP00000295980:Q92E	Q	+	1	0	IL17RE	9923053	0.078000	0.21339	0.097000	0.21041	0.006000	0.05464	0.092000	0.15066	0.421000	0.25980	-0.152000	0.13540	CAA	IL17RE	-	NULL	ENSG00000163701		0.483	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	HGNC	protein_coding	OTTHUMT00000250529.1	-	0.00	75	0	C	NM_153480		9948053	+1	tier1	-	no_errors	ENST00000421412	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.072	G
IL7R	3575	genome.wustl.edu	37	5	35876525	35876525	+	Silent	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:35876525T>G	ENST00000303115.3	+	8	1446	c.1317T>G	c.(1315-1317)acT>acG	p.T439T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	439					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCATTCTTACTTCCCTGGGAT	0.483			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													53.0	48.0	50.0					5																	35876525		2203	4300	6503	SO:0001819	synonymous_variant	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1317T>G	5.37:g.35876525T>G			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.T439	ENST00000303115.3	37	c.1317	CCDS3911.1	5																																																																																			IL7R	-	NULL	ENSG00000168685		0.483	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	-	0.00	52	0	T			35876525	+1	tier1	-	no_errors	ENST00000303115	ensembl	human	known	74_37	silent	21.19	119	32	SNP	0.005	G
ITCH	83737	genome.wustl.edu	37	20	33068499	33068499	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33068499T>C	ENST00000262650.6	+	20	2173	c.2037T>C	c.(2035-2037)tcT>tcC	p.S679S	ITCH_ENST00000374864.4_Silent_p.S638S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.S528S			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	679	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTAGAATCTATTGATCCAG	0.328																																																	0													83.0	86.0	85.0					20																	33068499		2202	4299	6501	SO:0001819	synonymous_variant	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2037T>C	20.37:g.33068499T>C			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.S679	ENST00000262650.6	37	c.2037	CCDS58768.1	20																																																																																			ITCH	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000078747		0.328	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0.00	46	0	T			33068499	+1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	C
ITGA2	3673	genome.wustl.edu	37	5	52385789	52385789	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:52385789T>G	ENST00000296585.5	+	29	3505	c.3362T>G	c.(3361-3363)aTa>aGa	p.I1121R	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1121					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCCTGATGATAATGAAACCT	0.383																																																	0													137.0	149.0	145.0					5																	52385789		2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3362T>G	5.37:g.52385789T>G	ENSP00000296585:p.Ile1121Arg		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.I1121R	ENST00000296585.5	37	c.3362	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828105	0.50845	.	.	ENSG00000164171	ENST00000296585	T	0.50001	0.76	5.77	5.77	0.91146	.	0.101125	0.64402	D	0.000005	T	0.60676	0.2287	L	0.58354	1.805	0.80722	D	1	D	0.55800	0.973	P	0.57468	0.821	T	0.61681	-0.7013	10	0.52906	T	0.07	.	15.3627	0.74492	0.0:0.0:0.0:1.0	.	1121	P17301	ITA2_HUMAN	R	1121	ENSP00000296585:I1121R	ENSP00000296585:I1121R	I	+	2	0	ITGA2	52421546	1.000000	0.71417	0.557000	0.28306	0.174000	0.22865	5.749000	0.68704	2.330000	0.79161	0.528000	0.53228	ATA	ITGA2	-	NULL	ENSG00000164171		0.383	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0.00	89	0	T	NM_002203		52385789	+1	tier1	-	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	9.25	157	16	SNP	0.984	G
ITPR1	3708	genome.wustl.edu	37	3	4856144	4856144	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:4856144G>T	ENST00000443694.2	+	55	7554	c.7554G>T	c.(7552-7554)gaG>gaT	p.E2518D	ITPR1_ENST00000357086.4_Missense_Mutation_p.E2485D|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2470D|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.E496D|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2485D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2518D|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2518D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2533	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGGATAAAGAGCACACATGTG	0.532																																																	0													105.0	111.0	109.0					3																	4856144		2072	4219	6291	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7554G>T	3.37:g.4856144G>T	ENSP00000401671:p.Glu2518Asp		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E2518D	ENST00000443694.2	37	c.7554	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527230	0.85706	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	5.11	0.548	0.17208	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	L	0.48642	1.525	0.41161	D	0.986097	P;D;P	0.76494	0.786;0.999;0.876	P;D;P	0.71184	0.771;0.972;0.755	D	0.94612	0.7805	10	0.19147	T	0.46	.	8.7855	0.34818	0.5222:0.0:0.4778:0.0	.	496;2533;2485	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	2533;2518;2518;2485;979;2485;2470;496;2518	ENSP00000306253:E2518D;ENSP00000346595:E2518D;ENSP00000405934:E2485D;ENSP00000349597:E2485D;ENSP00000397885:E2470D;ENSP00000440564:E496D;ENSP00000401671:E2518D	ENSP00000306253:E2518D	E	+	3	2	ITPR1	4831144	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.244000	0.43124	0.167000	0.19631	0.650000	0.86243	GAG	ITPR1	-	pfam_Ion_trans_dom	ENSG00000150995		0.532	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3		0.00	43	0	G	NM_002222		4856144	+1			no_errors	ENST00000302640	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
ITIH1	3697	genome.wustl.edu	37	3	52818319	52818319	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:52818319G>A	ENST00000273283.2	+	11	1257	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	ITIH1_ENST00000540715.1_Silent_p.T269T|ITIH1_ENST00000542827.1_Silent_p.T411T|ITIH1_ENST00000537050.1_Silent_p.T123T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	411	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGGGGTGACGGACCGTTCCC	0.617																																																	0													54.0	47.0	49.0					3																	52818319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1233G>A	3.37:g.52818319G>A			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T411	ENST00000273283.2	37	c.1233	CCDS2864.1	3																																																																																			ITIH1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000055957		0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	-	0.00	53	0	G	NM_002215		52818319	+1	tier1	-	no_errors	ENST00000273283	ensembl	human	known	74_37	silent	56.52	20	26	SNP	0.002	A
ITSN1	6453	genome.wustl.edu	37	21	35122555	35122555	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:35122555A>G	ENST00000381318.3	+	6	742	c.454A>G	c.(454-456)Aca>Gca	p.T152A	ITSN1_ENST00000399326.3_Missense_Mutation_p.T152A|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.T152A|ITSN1_ENST00000399367.3_Missense_Mutation_p.T152A|ITSN1_ENST00000399352.1_Missense_Mutation_p.T152A|ITSN1_ENST00000381285.4_Missense_Mutation_p.T152A|ITSN1_ENST00000399338.4_Missense_Mutation_p.T152A|ITSN1_ENST00000379960.5_Missense_Mutation_p.T152A|ITSN1_ENST00000399355.2_Missense_Mutation_p.T152A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.T152A|ITSN1_ENST00000381291.4_Missense_Mutation_p.T152A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	152					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCTGTTCCCACAGCAGCTGT	0.542																																																	0													123.0	104.0	110.0					21																	35122555		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.454A>G	21.37:g.35122555A>G	ENSP00000370719:p.Thr152Ala		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.T152A	ENST00000381318.3	37	c.454	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	A	9.206	1.029792	0.19512	.	.	ENSG00000205726	ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.92;0.86;0.99;1.39;0.92;1.27;1.91;0.95;1.92;1.94	5.2	-6.27	0.02026	.	0.426689	0.27447	N	0.019321	T	0.28632	0.0709	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.10636	-1.0621	10	0.36615	T	0.2	.	1.4376	0.02347	0.2208:0.378:0.1373:0.2639	.	152;152;152;152;152;152	A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3	.;.;.;.;ITSN1_HUMAN;.	A	152	ENSP00000370719:T152A;ENSP00000370691:T152A;ENSP00000370685:T152A;ENSP00000382301:T152A;ENSP00000382289:T152A;ENSP00000382292:T152A;ENSP00000382286:T152A;ENSP00000382275:T152A;ENSP00000387377:T152A;ENSP00000382265:T152A;ENSP00000369294:T152A	ENSP00000369294:T152A	T	+	1	0	ITSN1	34044425	0.126000	0.22350	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.011000	0.03391	0.454000	0.30748	ACA	ITSN1	-	NULL	ENSG00000205726		0.542	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0.00	51	0	A	NM_003024		35122555	+1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.002	G
JAK1	3716	genome.wustl.edu	37	1	65332731	65332731	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:65332731A>G	ENST00000342505.4	-	7	1056	c.808T>C	c.(808-810)Tac>Cac	p.Y270H		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	270	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GTAGCCAAGTATTTCACCTTC	0.378			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													210.0	194.0	199.0					1																	65332731		1903	4130	6033	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.808T>C	1.37:g.65332731A>G	ENSP00000343204:p.Tyr270His		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.Y270H	ENST00000342505.4	37	c.808	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706454	0.89018	.	.	ENSG00000162434	ENST00000342505	T	0.60424	0.19	5.55	5.55	0.83447	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.74726	0.3754	M	0.85859	2.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79992	-0.1569	9	0.87932	D	0	-6.2105	16.0621	0.80843	1.0:0.0:0.0:0.0	.	270	P23458	JAK1_HUMAN	H	270	ENSP00000343204:Y270H	ENSP00000343204:Y270H	Y	-	1	0	JAK1	65105319	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.932000	0.92897	2.252000	0.74401	0.529000	0.55759	TAC	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000162434		0.378	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	-	0.00	59	0	A	NM_002227		65332731	-1	tier1	-	no_errors	ENST00000342505	ensembl	human	known	74_37	missense	63.16	21	36	SNP	1.000	G
IVNS1ABP	10625	genome.wustl.edu	37	1	185270340	185270340	+	Intron	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:185270340A>G	ENST00000367498.3	-	10	1518				IVNS1ABP_ENST00000459929.1_Intron|IVNS1ABP_ENST00000392007.3_Intron	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTAAGCACAAGAGTTCCATG	0.423																																																	0													64.0	63.0	63.0					1																	185270340		2203	4300	6503	SO:0001627	intron_variant	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.896-12T>C	1.37:g.185270340A>G			A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	RNA	SNP	-	NULL	ENST00000367498.3	37	NULL	CCDS1368.1	1																																																																																			IVNS1ABP	-	-	ENSG00000116679		0.423	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	-	0.00	27	0	A	NM_006469		185270340	-1	tier1	-	no_errors	ENST00000494880	ensembl	human	known	74_37	rna	37.84	23	14	SNP	0.910	G
JAKMIP3	282973	genome.wustl.edu	37	10	133955458	133955458	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:133955458G>C	ENST00000298622.4	+	10	1646	c.1508G>C	c.(1507-1509)cGg>cCg	p.R503P		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	503						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTGAGGTTCCGGCAGCTGACC	0.607																																																	0													97.0	64.0	75.0					10																	133955458		2199	4294	6493	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1508G>C	10.37:g.133955458G>C	ENSP00000298622:p.Arg503Pro		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.R503P	ENST00000298622.4	37	c.1508	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645333	0.87859	.	.	ENSG00000188385	ENST00000298622	T	0.26518	1.73	3.67	3.67	0.42095	.	0.244823	0.33092	N	0.005282	T	0.47746	0.1462	M	0.64404	1.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.50285	-0.8846	10	0.49607	T	0.09	-22.0753	15.9465	0.79799	0.0:0.0:1.0:0.0	.	503	Q5VZ66	JKIP3_HUMAN	P	503	ENSP00000298622:R503P	ENSP00000298622:R503P	R	+	2	0	JAKMIP3	133805448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.251000	0.78297	2.073000	0.62155	0.561000	0.74099	CGG	JAKMIP3	-	NULL	ENSG00000188385		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0.00	86	0	G	NM_194303		133955458	+1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C
JPH4	84502	genome.wustl.edu	37	14	24045177	24045177	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:24045177G>A	ENST00000397118.3	-	4	1770	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.R290W	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	290					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCTGCGCCGATCTGCGCGC	0.781																																																	0													7.0	8.0	8.0					14																	24045177		1712	3564	5276	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.868C>T	14.37:g.24045177G>A	ENSP00000380307:p.Arg290Trp		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R290W	ENST00000397118.3	37	c.868	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	.	19.19	3.780522	0.70222	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.56275	0.47;0.47	3.97	0.749	0.18381	.	.	.	.	.	T	0.64713	0.2623	L	0.57536	1.79	0.31897	N	0.616501	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.958	T	0.68424	-0.5412	9	0.87932	D	0	.	10.7616	0.46268	0.0:0.0:0.5129:0.4871	.	290;290	A8K396;Q96JJ6	.;JPH4_HUMAN	W	290;290;290;291	ENSP00000348648:R290W;ENSP00000380307:R290W	ENSP00000267407:R291W	R	-	1	2	JPH4	23115017	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	0.907000	0.28531	0.299000	0.22661	-0.237000	0.12165	CGG	JPH4	-	pfam_MORN,smart_MORN,pirsf_Junctophilin	ENSG00000092051		0.781	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0.00	10	0	G	NM_032452		24045177	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	A
KANK1	23189	genome.wustl.edu	37	9	732675	732675	+	Intron	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:732675T>G	ENST00000382303.1	+	10	3897				KANK1_ENST00000382297.2_Intron|KANK1_ENST00000382293.3_Intron|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACTTTGGCAATAGAGTTGGCC	0.413																																																	0																																										SO:0001627	intron_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3245+58T>G	9.37:g.732675T>G			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	RNA	SNP	-	NULL	ENST00000382303.1	37	NULL	CCDS34976.1	9																																																																																			KANK1	-	-	ENSG00000107104		0.413	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0.00	50	0	T	NM_015158		732675	+1	tier1	-	no_errors	ENST00000489369	ensembl	human	known	74_37	rna	39.22	31	20	SNP	0.000	G
KCNT2	343450	genome.wustl.edu	37	1	196250003	196250003	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:196250003A>G	ENST00000294725.9	-	25	3812	c.2897T>C	c.(2896-2898)cTt>cCt	p.L966P	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L892P|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892P|KCNT2_ENST00000367433.5_Missense_Mutation_p.L942P|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											93.0	95.0	94.0					1																	196250003		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2897T>C	1.37:g.196250003A>G	ENSP00000294725:p.Leu966Pro		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L966P	ENST00000294725.9	37	c.2897	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384465	0.42308	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78595	-1.19;-1.19;-1.19	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	T	0.72366	0.3451	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.13145	0.004;0.007;0.004;0.007;0.004	B;B;B;B;B	0.15484	0.006;0.013;0.013;0.013;0.006	T	0.67023	-0.5775	10	0.25106	T	0.35	-12.0344	14.9129	0.70773	1.0:0.0:0.0:0.0	.	966;924;942;892;966	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	P	942;892;966	ENSP00000356403:L942P;ENSP00000356401:L892P;ENSP00000294725:L966P	ENSP00000294725:L966P	L	-	2	0	KCNT2	194516626	1.000000	0.71417	0.507000	0.27676	0.995000	0.86356	8.347000	0.90062	2.222000	0.72286	0.455000	0.32223	CTT	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0.00	34	0	A	NM_198503		196250003	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	60.00	16	24	SNP	0.977	G
KCNV1	27012	genome.wustl.edu	37	8	110980794	110980794	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:110980794A>G	ENST00000524391.1	-	4	2058	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C	KCNV1_ENST00000297404.1_Silent_p.C342C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	342					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTCTTCGTAACACTGGGTGA	0.473																																																	0													73.0	61.0	65.0					8																	110980794		2203	4300	6503	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1026T>C	8.37:g.110980794A>G			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.C342	ENST00000524391.1	37	c.1026	CCDS6314.1	8																																																																																			KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	20	0	A	NM_014379		110980794	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	30.77	9	4	SNP	1.000	G
KIAA1549L	25758	genome.wustl.edu	37	11	33565560	33565560	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:33565560A>C	ENST00000321505.4	+	1	1740	c.1560A>C	c.(1558-1560)gaA>gaC	p.E520D	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E520D|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E520D			Q6ZVL6	K154L_HUMAN	KIAA1549-like	520						integral component of membrane (GO:0016021)											AAACAGCTGAAGTTGCATATT	0.498																																																	0													148.0	148.0	148.0					11																	33565560		2026	4202	6228	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1560A>C	11.37:g.33565560A>C	ENSP00000315295:p.Glu520Asp		B0QYU0	Missense_Mutation	SNP	NULL	p.E520D	ENST00000321505.4	37	c.1560	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	4.642	0.119332	0.08881	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.77	-0.443	0.12249	.	1.037580	0.07609	N	0.924951	T	0.29914	0.0748	L	0.57536	1.79	0.09310	N	1	B;P	0.41265	0.067;0.744	B;B	0.39027	0.025;0.288	T	0.23154	-1.0196	9	0.14656	T	0.56	-2.1311	6.1379	0.20243	0.4533:0.1268:0.4199:0.0	.	520;520	E9PAT2;Q6ZVL6-2	.;.	D	520;520;520;360	.	ENSP00000265654:E520D	E	+	3	2	C11orf41	33522136	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.214000	0.09292	-0.108000	0.12066	-0.499000	0.04595	GAA	KIAA1549L	-	NULL	ENSG00000110427		0.498	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0.00	51	0	A	NM_012194		33565560	+1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.000	C
KIAA1598	57698	genome.wustl.edu	37	10	118681020	118681020	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118681020T>A	ENST00000355371.4	-	12	1617	c.1120A>T	c.(1120-1122)Atg>Ttg	p.M374L	KIAA1598_ENST00000392901.4_Missense_Mutation_p.M314L|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.M374L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.M374L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	374					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ATCATGGACATGAGGGATCTT	0.418																																																	0													111.0	95.0	100.0					10																	118681020		2203	4300	6503	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1120A>T	10.37:g.118681020T>A	ENSP00000347532:p.Met374Leu		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.M374L	ENST00000355371.4	37	c.1120	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226787	0.39399	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.42	5.42	0.78866	.	0.309654	0.38837	N	0.001549	T	0.58935	0.2157	L	0.41710	1.295	0.35983	D	0.836115	P;B;B	0.38863	0.65;0.257;0.42	P;P;B	0.54140	0.743;0.557;0.099	T	0.57682	-0.7769	9	0.02654	T	1	-18.7396	13.5138	0.61528	0.0:0.0:0.0:1.0	.	374;374;344	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	L	374;374;374;314	.	ENSP00000260777:M374L	M	-	1	0	KIAA1598	118671010	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.518000	0.60510	2.174000	0.68829	0.533000	0.62120	ATG	KIAA1598	-	NULL	ENSG00000187164		0.418	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		-	0.00	37	0	T	NM_018330		118681020	-1	tier1	-	no_errors	ENST00000392903	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A
KIF2C	11004	genome.wustl.edu	37	1	45221617	45221617	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:45221617T>C	ENST00000372224.4	+	9	889	c.776T>C	c.(775-777)aTa>aCa	p.I259T	KIF2C_ENST00000372217.1_Missense_Mutation_p.I205T|KIF2C_ENST00000372222.3_Missense_Mutation_p.I146T|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372218.4_Missense_Mutation_p.I218T	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	259	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGCACAGAATATGTGTCTGT	0.498																																																	0													91.0	85.0	87.0					1																	45221617		2203	4300	6503	SO:0001583	missense	0			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.776T>C	1.37:g.45221617T>C	ENSP00000361298:p.Ile259Thr		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I259T	ENST00000372224.4	37	c.776	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839955	0.91117	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.94	5.94	0.96194	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75116	-0.3431	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	218;205;259	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	T	218;259;218;250;146;205	ENSP00000410346:I218T;ENSP00000361298:I259T;ENSP00000361292:I218T;ENSP00000395050:I250T;ENSP00000361296:I146T;ENSP00000361291:I205T	ENSP00000361291:I205T	I	+	2	0	KIF2C	44994204	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.040000	0.89188	2.279000	0.76181	0.459000	0.35465	ATA	KIF2C	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000142945		0.498	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1		0.00	32	0	T	NM_006845		45221617	+1			no_errors	ENST00000372224	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	GL000209.1	89559	89559	+	IGR	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrGL000209.1:89559C>T								None (None upstream) : None (None downstream)																							GCTCCAGGAGCTCATTTGACA	0.572																																																	0																																										SO:0001628	intergenic_variant	0																															GL000209.1.37:g.89559C>T				Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.S148		37	c.444		GL000209.1																																																																																			KIR2DL2	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000215764	0	0.572					KIR2DL2	HGNC			-	0.00	84	0	C			89559	+1	tier1	-	no_errors	ENST00000391731	ensembl	human	known	74_37	silent	6.25	135	9	SNP	NULL	T
KIRREL3	84623	genome.wustl.edu	37	11	126873697	126873697	+	5'Flank	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:126873697A>C	ENST00000525704.2	-	0	0				KIRREL3-AS3_ENST00000525678.1_RNA|KIRREL3_ENST00000533026.2_5'Flank	NM_001161707.1	NP_001155179.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)						hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCGGTGCCAAGTGCTGGGTC	0.711											OREG0021489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831		11.37:g.126873697A>C	Exception_encountered	1552	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	RNA	SNP	-	NULL	ENST00000525704.2	37	NULL	CCDS55796.1	11																																																																																			KIRREL3-AS3	-	-	ENSG00000218109		0.711	KIRREL3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIRREL3-AS3	HGNC	protein_coding	OTTHUMT00000386483.2		0.00	41	0	A	NM_032531		126873697	+1			no_errors	ENST00000525678	ensembl	human	known	74_37	rna	15.00	17	3	SNP	0.000	C
KLHL42	57542	genome.wustl.edu	37	12	27944734	27944734	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:27944734T>G	ENST00000381271.2	+	2	1277	c.966T>G	c.(964-966)gaT>gaG	p.D322E		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	322					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCGAGCAGGATGCGTGGAATT	0.473																																																	0													223.0	216.0	218.0					12																	27944734		2203	4300	6503	SO:0001583	missense	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.966T>G	12.37:g.27944734T>G	ENSP00000370671:p.Asp322Glu		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.D322E	ENST00000381271.2	37	c.966	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.946836|3.946836	0.73672|0.73672	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000543254|ENST00000381271	.|T	.|0.79940	.|-1.32	4.86|4.86	-0.183|-0.183	0.13284|0.13284	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87861|0.87861	0.6284|0.6284	M|M	0.84846|0.84846	2.72|2.72	0.42372|0.42372	D|D	0.99245|0.99245	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	D|D	0.85938|0.85938	0.1456|0.1456	5|10	.|0.62326	.|D	.|0.03	.|.	8.8642|8.8642	0.35276|0.35276	0.0:0.6501:0.0:0.3499|0.0:0.6501:0.0:0.3499	.|.	.|322	.|Q9P2K6	.|KLDC5_HUMAN	G|E	144|322	.|ENSP00000370671:D322E	.|ENSP00000370671:D322E	C|D	+|+	1|3	0|2	KLHDC5|KLHDC5	27836001|27836001	1.000000|1.000000	0.71417|0.71417	0.477000|0.477000	0.27303|0.27303	0.810000|0.810000	0.45777|0.45777	2.833000|2.833000	0.48159|0.48159	0.043000|0.043000	0.15746|0.15746	-0.297000|-0.297000	0.09499|0.09499	TGC|GAT	KLHL42	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000087448		0.473	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1	-	0.00	67	0	T	NM_020782		27944734	+1	tier1	-	no_errors	ENST00000381271	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.989	G
KMT2C	58508	genome.wustl.edu	37	7	151843811	151843811	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:151843811T>A	ENST00000262189.6	-	53	14122	c.13904A>T	c.(13903-13905)gAt>gTt	p.D4635V	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4692V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4635	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAAAATCTTATCCCAGACACC	0.388																																																	0													58.0	60.0	59.0					7																	151843811		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13904A>T	7.37:g.151843811T>A	ENSP00000262189:p.Asp4635Val		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4692V	ENST00000262189.6	37	c.14075	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975563	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.42900	0.96;0.96;0.96	5.18	5.18	0.71444	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.44483	U	0.000454	T	0.61211	0.2329	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64960	-0.6284	10	0.87932	D	0	.	15.0353	0.71741	0.0:0.0:0.0:1.0	.	4635;3753;4692	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4635;4692;1252	ENSP00000262189:D4635V;ENSP00000347325:D4692V;ENSP00000410411:D1252V	ENSP00000262189:D4635V	D	-	2	0	MLL3	151474744	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	8.036000	0.88901	1.955000	0.56771	0.455000	0.32223	GAT	KMT2C	-	pfam_FYrich_C,smart_FYrich_C	ENSG00000055609		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	42	0	T			151843811	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49445150	49445150	+	Silent	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:49445150G>C	ENST00000301067.7	-	10	2315	c.2316C>G	c.(2314-2316)ccC>ccG	p.P772P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	772	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCAGGCTGGGGGGACAGGT	0.677																																																	0													19.0	21.0	21.0					12																	49445150		1826	3850	5676	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2316C>G	12.37:g.49445150G>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P772	ENST00000301067.7	37	c.2316	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	58	0	G			49445150	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	51.79	26	29	SNP	0.275	C
KPNA1	3836	genome.wustl.edu	37	3	122146408	122146408	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:122146408C>T	ENST00000344337.6	-	13	1582	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608015.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	469					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AATCAAAGCACAGTAAGGGTT	0.398																																					Melanoma(12;340 801 11196 19797)												0													116.0	110.0	112.0					3																	122146408		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1406G>A	3.37:g.122146408C>T	ENSP00000343701:p.Cys469Tyr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.C469Y	ENST00000344337.6	37	c.1406	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068933	0.76301	.	.	ENSG00000114030	ENST00000344337	T	0.29397	1.57	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.74881	2.28	0.80722	D	1	P	0.36027	0.533	B	0.43990	0.438	T	0.47736	-0.9094	10	0.72032	D	0.01	-7.8486	18.346	0.90322	0.0:1.0:0.0:0.0	.	469	P52294	IMA1_HUMAN	Y	469	ENSP00000343701:C469Y	ENSP00000343701:C469Y	C	-	2	0	KPNA1	123629098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.627000	0.83176	2.822000	0.97130	0.650000	0.86243	TGT	KPNA1	-	superfamily_ARM-type_fold	ENSG00000114030		0.398	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	-	0.00	44	0	C	NM_002264		122146408	-1	tier1	-	no_errors	ENST00000344337	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	T
KRT12	3859	genome.wustl.edu	37	17	39020020	39020020	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:39020020G>A	ENST00000251643.4	-	4	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	302	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACTGCGCCCGCATATCATTG	0.552																																																	0													57.0	59.0	58.0					17																	39020020		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.904C>T	17.37:g.39020020G>A	ENSP00000251643:p.Arg302Trp		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R302W	ENST00000251643.4	37	c.904	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210959	0.79240	.	.	ENSG00000187242	ENST00000251643	D	0.93488	-3.23	5.58	1.98	0.26296	Filament (1);	0.000000	0.56097	D	0.000036	D	0.97052	0.9037	M	0.92833	3.35	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.97090	0.9790	10	0.87932	D	0	.	13.1781	0.59639	0.0:0.0:0.4297:0.5703	.	302	Q99456	K1C12_HUMAN	W	302	ENSP00000251643:R302W	ENSP00000251643:R302W	R	-	1	2	KRT12	36273546	0.997000	0.39634	0.990000	0.47175	0.977000	0.68977	0.280000	0.18790	0.422000	0.26005	-0.467000	0.05162	CGG	KRT12	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000187242		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2		0.00	48	0	G	NM_000223		39020020	-1			no_errors	ENST00000251643	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
KRT6C	286887	genome.wustl.edu	37	12	52865858	52865858	+	Silent	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:52865858G>C	ENST00000252250.6	-	2	794	c.747C>G	c.(745-747)ctC>ctG	p.L249L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	249	Coil 1B.|Rod.			L -> F (in Ref. 1; AAC41769). {ECO:0000305}.	intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L249L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ACTTGTTCTTGAGGTCCTCCA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	62.0	68.0					12																	52865858		2203	4298	6501	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.747C>G	12.37:g.52865858G>C			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.L249	ENST00000252250.6	37	c.747	CCDS8829.1	12																																																																																			KRT6C	-	pfam_IF,prints_Keratin_II	ENSG00000170465		0.552	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0.00	74	0	G	NM_173086		52865858	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	silent	55.38	29	36	SNP	1.000	C
KRTAP24-1	643803	genome.wustl.edu	37	21	31655245	31655245	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:31655245A>G	ENST00000340345.4	-	1	31	c.6T>C	c.(4-6)ccT>ccC	p.P2P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	2						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGAGCCTGCAGGCATGCTCA	0.488																																																	0													30.0	31.0	31.0					21																	31655245		2032	4207	6239	SO:0001819	synonymous_variant	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.6T>C	21.37:g.31655245A>G			Q1XDX0	Silent	SNP	pfam_KRTAP_PMG	p.P2	ENST00000340345.4	37	c.6	CCDS42915.1	21																																																																																			KRTAP24-1	-	NULL	ENSG00000188694		0.488	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	-	0.00	21	0	A	NM_001085455		31655245	-1	tier1	-	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.000	G
L1TD1	54596	genome.wustl.edu	37	1	62675655	62675657	+	In_Frame_Del	DEL	GGA	GGA	-	rs532563709|rs199552452		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:62675655_62675657delGGA	ENST00000498273.1	+	4	1504_1506	c.1209_1211delGGA	c.(1207-1212)ctggag>ctg	p.E409del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CCTCAGGGCTggaggaggaggag	0.537																																																	0																																										SO:0001651	inframe_deletion	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1209_1211delGGA	1.37:g.62675664_62675666delGGA	ENSP00000419901:p.Glu409del		Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E407in_frame_del	ENST00000498273.1	37	c.1209_1211	CCDS619.1	1																																																																																			L1TD1	-	NULL	ENSG00000240563		0.537	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1		0.00	31	0	GGA	NM_019079		62675657	+1	tier1		no_errors	ENST00000498273	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	0.002:0.001:0.000	-
LANCL1	10314	genome.wustl.edu	37	2	211302544	211302544	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:211302544A>G	ENST00000443314.1	-	6	1085	c.743T>C	c.(742-744)gTa>gCa	p.V248A	LANCL1_ENST00000233714.4_Missense_Mutation_p.V248A|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.V248A|LANCL1_ENST00000441020.3_Missense_Mutation_p.V248A|LANCL1_ENST00000431941.2_Missense_Mutation_p.V248A			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	248					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GACGTAGTCTACACTGGGCTT	0.463																																																	0													96.0	89.0	92.0					2																	211302544		2203	4300	6503	SO:0001583	missense	0			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.743T>C	2.37:g.211302544A>G	ENSP00000388713:p.Val248Ala			Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.V248A	ENST00000443314.1	37	c.743	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	A	28.4	4.917906	0.92249	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.62	5.62	0.85841	Six-hairpin glycosidase-like (1);	0.174867	0.49305	D	0.000152	T	0.61110	0.2321	M	0.86651	2.83	0.58432	D	0.999999	P	0.44139	0.827	P	0.49387	0.609	T	0.69168	-0.5216	10	0.87932	D	0	.	15.8159	0.78599	1.0:0.0:0.0:0.0	.	248	O43813	LANC1_HUMAN	A	248	ENSP00000388713:V248A;ENSP00000393323:V248A;ENSP00000393597:V248A;ENSP00000233714:V248A;ENSP00000397646:V248A	ENSP00000233714:V248A	V	-	2	0	LANCL1	211010789	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	2.133000	0.65898	0.482000	0.46254	GTA	LANCL1	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like	ENSG00000115365		0.463	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	-	0.00	39	0	A	NM_006055		211302544	-1	tier1	-	no_errors	ENST00000233714	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	G
LFNG	3955	genome.wustl.edu	37	7	2552880	2552880	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:2552880C>T	ENST00000402506.1	+	2	263	c.137C>T	c.(136-138)aCa>aTa	p.T46I		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gacagatggacagatggatgg	0.562																																																	0													133.0	125.0	127.0					7																	2552880		1568	3582	5150	SO:0001583	missense	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.137C>T	7.37:g.2552880C>T	ENSP00000385764:p.Thr46Ile		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like	p.T46I	ENST00000402506.1	37	c.137	CCDS55081.1	7	.	.	.	.	.	.	.	.	.	.	C	7.077	0.569507	0.13560	.	.	ENSG00000106003	ENST00000402506	T	0.73258	-0.73	2.36	1.47	0.22746	.	.	.	.	.	T	0.49047	0.1534	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.46133	-0.9213	7	0.87932	D	0	.	4.9157	0.13844	0.0:0.8209:0.0:0.1791	.	.	.	.	I	46	ENSP00000385764:T46I	ENSP00000385764:T46I	T	+	2	0	LFNG	2519406	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.432000	0.06956	0.564000	0.29238	0.491000	0.48974	ACA	LFNG	-	NULL	ENSG00000106003		0.562	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325023.1		0.00	35	0	C	NM_002304		2552880	+1			no_errors	ENST00000402506	ensembl	human	putative	74_37	missense	6.67	70	5	SNP	0.003	T
LGI2	55203	genome.wustl.edu	37	4	25028544	25028544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:25028544G>T	ENST00000382114.4	-	3	472	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	96						extracellular region (GO:0005576)		p.S96L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GATCGTGAATGAGTTAGAATT	0.383																																																	1	Substitution - Missense(1)	lung(1)											111.0	107.0	108.0					4																	25028544		2203	4300	6503	SO:0001587	stop_gained	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.287C>A	4.37:g.25028544G>T	ENSP00000371548:p.Ser96*		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Nonsense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S96*	ENST00000382114.4	37	c.287	CCDS3431.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.923988|7.923988	0.98563|0.98563	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|.	.|.	.|.	5.92|5.92	5.07|5.07	0.68467|0.68467	.|.	.|0.188987	.|0.47455	.|D	.|0.000223	T|.	0.38532|.	0.1044|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34950|.	-0.9808|.	3|.	.|0.02654	.|T	.|1	-10.4428|-10.4428	16.3485|16.3485	0.83171|0.83171	0.0:0.0:0.867:0.133|0.0:0.0:0.867:0.133	.|.	.|.	.|.	.|.	N|X	87|96	.|.	.|ENSP00000371548:S96X	H|S	-|-	1|2	0|0	LGI2|LGI2	24637642|24637642	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.993000|0.993000	0.82548|0.82548	9.226000|9.226000	0.95229|0.95229	1.469000|1.469000	0.48083|0.48083	0.655000|0.655000	0.94253|0.94253	CAT|TCA	LGI2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000153012		0.383	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1		0.00	19	0	G			25028544	-1			no_errors	ENST00000382114	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.997	T
LIPN	643418	genome.wustl.edu	37	10	90528548	90528548	+	Splice_Site	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:90528548G>C	ENST00000404459.1	+	5	535		c.e5-1			NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGTTCTCTCAGGGTTTGTAGC	0.393																																																	0													86.0	80.0	82.0					10																	90528548		1842	4080	5922	SO:0001630	splice_region_variant	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.536-1G>C	10.37:g.90528548G>C			A7KIH9	Splice_Site	SNP	-	e5-1	ENST00000404459.1	37	c.536-1	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703758	0.68501	.	.	ENSG00000204020	ENST00000404459	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2407	0.73468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPN	90518528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.640000	0.74319	2.652000	0.90054	0.650000	0.86243	.	LIPN	-	-	ENSG00000204020		0.393	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	-	0.00	60	0	G	XM_926751	Intron	90528548	+1	tier1	-	no_errors	ENST00000404459	ensembl	human	known	74_37	splice_site	35.29	32	18	SNP	1.000	C
LONP1	9361	genome.wustl.edu	37	19	5696723	5696723	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:5696723C>G	ENST00000360614.3	-	11	1888	c.1731G>C	c.(1729-1731)ttG>ttC	p.L577F	LONP1_ENST00000585374.1_Missense_Mutation_p.L463F|LONP1_ENST00000590729.1_Missense_Mutation_p.L447F|LONP1_ENST00000593119.1_Missense_Mutation_p.L513F|LONP1_ENST00000540670.2_Missense_Mutation_p.L381F	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTCTTCTTCAAACACTGGA	0.627																																																	0													89.0	73.0	78.0					19																	5696723		2203	4300	6503	SO:0001583	missense	0			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1731G>C	19.37:g.5696723C>G	ENSP00000353826:p.Leu577Phe			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.L577F	ENST00000360614.3	37	c.1731	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526343	0.64860	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.91686	-2.89;-2.89	4.85	4.85	0.62838	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.165528	0.40818	N	0.001001	D	0.92061	0.7484	M	0.65975	2.015	0.58432	D	0.999993	B;B;B	0.34399	0.452;0.452;0.452	B;B;B	0.43990	0.438;0.424;0.438	D	0.91691	0.5366	10	0.62326	D	0.03	-12.3143	9.2064	0.37291	0.0:0.9003:0.0:0.0997	.	577;513;577	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	F	577;541;381	ENSP00000353826:L577F;ENSP00000441523:L381F	ENSP00000351177:L541F	L	-	3	2	LONP1	5647723	0.982000	0.34865	1.000000	0.80357	0.383000	0.30230	0.202000	0.17295	2.257000	0.74773	0.485000	0.47835	TTG	LONP1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.627	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000451662.1		0.00	77	0	C	NM_004793		5696723	-1			no_errors	ENST00000360614	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	G
LPHN3	23284	genome.wustl.edu	37	4	62813834	62813834	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:62813834T>C	ENST00000514591.1	+	16	2770	c.2441T>C	c.(2440-2442)tTc>tCc	p.F814S	LPHN3_ENST00000545650.1_Missense_Mutation_p.F814S|LPHN3_ENST00000512091.2_Missense_Mutation_p.F814S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F814S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F882S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F882S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F814S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F882S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F882S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F814S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F882S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F814S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F882S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F882S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F814S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	801	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGAAAATTTCAACCCTAAC	0.363																																																	0													68.0	60.0	63.0					4																	62813834		1842	4094	5936	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2441T>C	4.37:g.62813834T>C	ENSP00000422533:p.Phe814Ser		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.F882S	ENST00000514591.1	37	c.2645	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371057	0.82573	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.33;-0.34;-0.34;-0.34;-0.33;-0.34;-0.35;-0.35;-0.35;-0.34;-0.34;-0.37;-0.37;-0.36;-0.36	5.98	5.98	0.97165	GPS domain (1);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	M	0.82056	2.57	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.994	T	0.78620	-0.2133	10	0.16896	T	0.51	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	814;801;814	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	S	814;814;882;882;814;814;801;814;882;882;882;814;814;814;882;882;814	ENSP00000423388:F814S;ENSP00000422533:F814S;ENSP00000423787:F882S;ENSP00000425033:F882S;ENSP00000424120:F814S;ENSP00000439831:F814S;ENSP00000421476:F882S;ENSP00000424030:F882S;ENSP00000421372:F882S;ENSP00000425201:F814S;ENSP00000423434:F814S;ENSP00000421627:F814S;ENSP00000420931:F882S;ENSP00000425884:F882S;ENSP00000424258:F814S	ENSP00000280009:F814S	F	+	2	0	LPHN3	62496429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.307000	0.77673	0.529000	0.55759	TTC	LPHN3	-	smart_GPS_dom	ENSG00000150471		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0.00	35	0	T			62813834	+1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	76.92	6	20	SNP	1.000	C
LRRC16B	90668	genome.wustl.edu	37	14	24524274	24524274	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:24524274G>A	ENST00000342740.5	+	7	614		c.e7-1		LRRC16B_ENST00000334420.7_Splice_Site	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTGCCCCACAGGTGGCTTCTC	0.537																																																	0													135.0	112.0	120.0					14																	24524274		2203	4300	6503	SO:0001630	splice_region_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.461-1G>A	14.37:g.24524274G>A			Q8TEF7|Q96HS9	Splice_Site	SNP	-	e7-1	ENST00000342740.5	37	c.461-1	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394312	0.62066	.	.	ENSG00000186648	ENST00000342740	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6262	0.56630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC16B	23594114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.961000	0.93122	2.342000	0.79632	0.462000	0.41574	.	LRRC16B	-	-	ENSG00000186648		0.537	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1		0.00	62	0	G	NM_138360	Intron	24524274	+1			no_errors	ENST00000342740	ensembl	human	known	74_37	splice_site	5.88	48	3	SNP	1.000	A
LRRC4C	57689	genome.wustl.edu	37	11	40137493	40137493	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:40137493A>C	ENST00000278198.2	-	2	2313	c.350T>G	c.(349-351)aTt>aGt	p.I117S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I117S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I117S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I117S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	117					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAAGCCCCAATTTCAATGGT	0.423																																																	0													70.0	70.0	70.0					11																	40137493		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.350T>G	11.37:g.40137493A>C	ENSP00000278198:p.Ile117Ser		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I117S	ENST00000278198.2	37	c.350	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435590	0.25813	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.73	5.73	0.89815	.	0.183385	0.42821	D	0.000650	T	0.02418	0.0074	N	0.01668	-0.77	0.51767	D	0.999933	B	0.28082	0.2	B	0.33254	0.16	T	0.55289	-0.8164	10	0.09084	T	0.74	.	15.1921	0.73053	1.0:0.0:0.0:0.0	.	117	Q9HCJ2	LRC4C_HUMAN	S	117	ENSP00000278198:I117S;ENSP00000436976:I117S;ENSP00000437132:I117S;ENSP00000434761:I117S	ENSP00000278198:I117S	I	-	2	0	LRRC4C	40094069	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.371000	0.79600	2.185000	0.69588	0.477000	0.44152	ATT	LRRC4C	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0.00	44	0	A	NM_020929		40137493	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.991	C
LRRC32	2615	genome.wustl.edu	37	11	76371138	76371138	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:76371138C>T	ENST00000407242.2	-	3	1741	c.1499G>A	c.(1498-1500)gGc>gAc	p.G500D	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G500D|LRRC32_ENST00000260061.5_Missense_Mutation_p.G500D|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	500					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGCCCGTTGCCCTGCAGTGC	0.647																																																	0													30.0	30.0	30.0					11																	76371138		2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1499G>A	11.37:g.76371138C>T	ENSP00000384126:p.Gly500Asp		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.G500D	ENST00000407242.2	37	c.1499	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702415	0.48307	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04809	3.55;3.55;3.55	4.4	3.46	0.39613	.	0.120017	0.56097	D	0.000030	T	0.05777	0.0151	N	0.14661	0.345	0.58432	D	0.999998	D	0.61697	0.99	P	0.54889	0.763	T	0.56583	-0.7955	10	0.16420	T	0.52	.	12.6831	0.56932	0.0:0.9178:0.0:0.0822	.	500	Q14392	LRC32_HUMAN	D	500	ENSP00000260061:G500D;ENSP00000384126:G500D;ENSP00000385766:G500D	ENSP00000260061:G500D	G	-	2	0	LRRC32	76048786	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.428000	0.59894	2.279000	0.76181	0.491000	0.48974	GGC	LRRC32	-	NULL	ENSG00000137507		0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0.00	32	0	C	NM_005512		76371138	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.997	T
LRRIQ1	84125	genome.wustl.edu	37	12	85517961	85517961	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:85517961A>T	ENST00000393217.2	+	17	3732	c.3671A>T	c.(3670-3672)aAg>aTg	p.K1224M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1224								p.K1224T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTATCACCAAGAAAGATGAA	0.408																																																	2	Substitution - Missense(2)	large_intestine(2)											98.0	102.0	101.0					12																	85517961		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3671A>T	12.37:g.85517961A>T	ENSP00000376910:p.Lys1224Met		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K1224M	ENST00000393217.2	37	c.3671	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	9.187	1.025064	0.19433	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55413	0.52	5.52	3.08	0.35506	.	0.662303	0.14387	N	0.322759	T	0.44286	0.1286	N	0.24115	0.695	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.49999	0.533;0.628	T	0.26503	-1.0101	10	0.72032	D	0.01	.	6.9784	0.24690	0.7748:0.1493:0.0759:0.0	.	1224;1199	Q96JM4;C9JI57	LRIQ1_HUMAN;.	M	1224;1199;1224	ENSP00000376910:K1224M	ENSP00000256007:K1224M	K	+	2	0	LRRIQ1	84042092	0.014000	0.17966	0.006000	0.13384	0.028000	0.11728	2.664000	0.46783	0.348000	0.23949	0.477000	0.44152	AAG	LRRIQ1	-	NULL	ENSG00000133640		0.408	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	31	0	A	NM_032165		85517961	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.012	T
LSR	51599	genome.wustl.edu	37	19	35758274	35758274	+	Silent	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:35758274T>G	ENST00000361790.3	+	9	1710	c.1551T>G	c.(1549-1551)ggT>ggG	p.G517G	USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Silent_p.G361G|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000602122.1_Silent_p.G497G|LSR_ENST00000354900.3_Silent_p.G498G|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000360798.3_Silent_p.G449G|LSR_ENST00000347609.4_Silent_p.G459G|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	517					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGAGTAATGGTGGGAGAAGCC	0.726																																																	0													10.0	15.0	14.0					19																	35758274		2104	4140	6244	SO:0001819	synonymous_variant	0			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1551T>G	19.37:g.35758274T>G			A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.G517	ENST00000361790.3	37	c.1551	CCDS12450.1	19																																																																																			LSR	-	NULL	ENSG00000105699		0.726	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2		0.00	9	0	T	NM_015925		35758274	+1			no_errors	ENST00000361790	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.945	G
LUZP2	338645	genome.wustl.edu	37	11	24759804	24759804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:24759804C>T	ENST00000336930.6	+	4	355	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	LUZP2_ENST00000533227.1_Nonsense_Mutation_p.Q11*|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	97						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCAAAATCAGCTTAAGGA	0.373																																																	0													77.0	79.0	79.0					11																	24759804		2203	4300	6503	SO:0001587	stop_gained	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.289C>T	11.37:g.24759804C>T	ENSP00000336817:p.Gln97*		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Nonsense_Mutation	SNP	NULL	p.Q97*	ENST00000336930.6	37	c.289	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.446823	0.96205	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	.	.	.	5.77	5.77	0.91146	.	0.069038	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.5682	17.4594	0.87616	0.0:1.0:0.0:0.0	.	.	.	.	X	97;97;11	.	ENSP00000336817:Q97X	Q	+	1	0	LUZP2	24716380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.098000	0.71458	2.725000	0.93324	0.655000	0.94253	CAG	LUZP2	-	NULL	ENSG00000187398		0.373	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0.00	77	0	C	NM_001009909		24759804	+1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T
MAGEB5	347541	genome.wustl.edu	37	X	26236218	26236218	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:26236218A>C	ENST00000602297.1	+	2	1047	c.800A>C	c.(799-801)aAg>aCg	p.K267T	MAGEB5_ENST00000379029.2_Missense_Mutation_p.K267T	NM_001271752.1	NP_001258681.1	Q9BZ81	MAGB5_HUMAN	melanoma antigen family B, 5	267										lung(1)|ovary(1)	2						CTCAGGGCGAAGTTCAGCAGC	0.438																																																	0																																										SO:0001583	missense	0			AF333705	CCDS65233.1	Xp22	2012-04-20			ENSG00000188408	ENSG00000188408			23795	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 3"""	300466				10861452	Standard	NM_001271752		Approved	MAGE-B5, CT3.3	uc031thc.1	Q9BZ81	OTTHUMG00000021288	ENST00000602297.1:c.800A>C	X.37:g.26236218A>C	ENSP00000473493:p.Lys267Thr			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K267T	ENST00000602297.1	37	c.800		X	.	.	.	.	.	.	.	.	.	.	A	2.922	-0.222915	0.06061	.	.	ENSG00000188408	ENST00000379029	T	0.03386	3.95	3.81	-7.63	0.01290	.	.	.	.	.	T	0.01489	0.0048	N	0.12920	0.275	0.09310	N	1	.	.	.	.	.	.	T	0.44034	-0.9354	7	0.14252	T	0.57	.	1.7565	0.02983	0.1258:0.2916:0.3162:0.2664	.	.	.	.	T	267	ENSP00000368315:K267T	ENSP00000368315:K267T	K	+	2	0	MAGEB5	26146139	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.942000	0.01541	-2.895000	0.00314	-0.369000	0.07265	AAG	MAGEB5	-	NULL	ENSG00000188408		0.438	MAGEB5-001	KNOWN	basic|appris_principal	protein_coding	MAGEB5	HGNC	protein_coding	OTTHUMT00000056126.2	-	0.00	45	0	A	XM_293407		26236218	+1	tier1	-	no_errors	ENST00000379029	ensembl	human	known	74_37	missense	80.00	5	20	SNP	0.000	C
MALAT1	378938	genome.wustl.edu	37	11	65267814	65267814	+	lincRNA	SNP	G	G	A	rs199502340		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:65267814G>A	ENST00000534336.1	+	0	2582				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTGGACTTTGAGTTAAGATT	0.353																																																	0													42.0	43.0	43.0					11																	65267814		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267814G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.353	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	-	0.00	43	0	G	NR_002819		65267814	+1	tier1	-	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	41.46	24	17	SNP	0.981	A
MAML3	55534	genome.wustl.edu	37	4	140811438	140811438	+	Silent	SNP	G	G	T	rs375901234		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:140811438G>T	ENST00000509479.2	-	2	2008	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	MAML3_ENST00000327122.5_Silent_p.P228P|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGTAGAAAAGGGAGGACCAG	0.587																																																	0													102.0	103.0	103.0					4																	140811438		2037	4201	6238	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1152C>A	4.37:g.140811438G>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.P384	ENST00000509479.2	37	c.1152	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	-	0.00	30	0	G			140811438	-1	tier1	-	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.997	T
MAMLD1	10046	genome.wustl.edu	37	X	149638884	149638884	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:149638884C>A	ENST00000370401.2	+	4	1349	c.1039C>A	c.(1039-1041)Cac>Aac	p.H347N	MAMLD1_ENST00000432680.2_Missense_Mutation_p.H322N|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H347N|MAMLD1_ENST00000426613.2_Missense_Mutation_p.H322N|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	347				PH -> LQ (in Ref. 1; AAC50551). {ECO:0000305}.	male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					Gccatcaccacacccaccacc	0.622																																																	0													87.0	56.0	67.0					X																	149638884		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1039C>A	X.37:g.149638884C>A	ENSP00000359428:p.His347Asn		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.H322N	ENST00000370401.2	37	c.964	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	7.705	0.693976	0.15039	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.51	4.63	0.57726	.	0.512523	0.20560	N	0.089933	T	0.69904	0.3163	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.41848	0.557;0.557;0.763;0.763	B;B;P;B	0.47346	0.299;0.299;0.544;0.291	T	0.67585	-0.5633	9	.	.	.	-15.4961	14.7549	0.69557	0.1456:0.8544:0.0:0.0	.	309;322;322;347	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	N	309;347;322;347;322	ENSP00000359428:H347N;ENSP00000414517:H322N;ENSP00000262858:H347N;ENSP00000397438:H322N	.	H	+	1	0	MAMLD1	149389542	0.979000	0.34478	0.029000	0.17559	0.149000	0.21700	4.187000	0.58344	1.053000	0.40415	0.600000	0.82982	CAC	MAMLD1	-	NULL	ENSG00000013619		0.622	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0.00	32	0	C	NM_005491		149638884	+1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	72.73	6	16	SNP	0.940	A
MANEAL	149175	genome.wustl.edu	37	1	38265722	38265722	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:38265722G>C	ENST00000373045.6	+	4	1602	c.1221G>C	c.(1219-1221)tgG>tgC	p.W407C	MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.W213C|MANEAL_ENST00000329006.5_Missense_Mutation_p.W185C|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	407						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.W185C(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAATGAGTGGCACGAGGGCA	0.577																																																	1	Substitution - Missense(1)	liver(1)											75.0	80.0	78.0					1																	38265722		2203	4300	6503	SO:0001583	missense	0			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1221G>C	1.37:g.38265722G>C	ENSP00000362136:p.Trp407Cys		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.W407C	ENST00000373045.6	37	c.1221	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101617	0.76983	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86318	0.5904	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89363	0.3669	9	0.87932	D	0	-10.4826	17.918	0.88958	0.0:0.0:1.0:0.0	.	185;407	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	C	407;213;185	.	ENSP00000328770:W185C	W	+	3	0	MANEAL	38038309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.662000	0.90505	0.655000	0.94253	TGG	MANEAL	-	NULL	ENSG00000185090		0.577	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2	-	0.00	44	0	G	NM_152496		38265722	+1	tier1	-	no_errors	ENST00000373045	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	C
MAP2	4133	genome.wustl.edu	37	2	210595014	210595014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:210595014C>T	ENST00000360351.4	+	15	5883	c.5377C>T	c.(5377-5379)Cga>Tga	p.R1793*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.R1789*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.R525*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.R437*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.R437*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1793					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCACCCCGACGACTCAGCAA	0.552																																					Pancreas(27;423 979 28787 29963)												0													89.0	80.0	83.0					2																	210595014		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5377C>T	2.37:g.210595014C>T	ENSP00000353508:p.Arg1793*		Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R1793*	ENST00000360351.4	37	c.5377	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	46	12.937441	0.99707	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.48	4.57	0.56435	.	0.000000	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-8.7007	14.3242	0.66507	0.2584:0.7416:0.0:0.0	.	.	.	.	X	525;1793;437;437;1789	.	ENSP00000199940:R525X	R	+	1	2	MAP2	210303259	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	2.613000	0.46351	2.571000	0.86741	0.650000	0.86243	CGA	MAP2	-	NULL	ENSG00000078018		0.552	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0.00	28	0	C	NM_001039538		210595014	+1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	nonsense	50.00	21	21	SNP	1.000	T
MAP2K5	5607	genome.wustl.edu	37	15	68061972	68061972	+	Silent	SNP	G	G	A	rs149823125		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:68061972G>A	ENST00000178640.5	+	20	1794	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S	MAP2K5_ENST00000354498.5_Silent_p.S353S|MAP2K5_ENST00000395476.2_Silent_p.S379S|MAP2K5_ENST00000340972.4_Silent_p.S199S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	389	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAGAGTTCTCGGAGCCATTTG	0.463																																																	0								G	,,	0,4400		0,0,2200	139.0	118.0	125.0		1059,1137,1167	-2.5	0.9	15	dbSNP_134	125	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	MAP2K5	NM_001206804.1,NM_002757.3,NM_145160.2	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	353/413,379/439,389/449	68061972	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1167G>A	15.37:g.68061972G>A			B4DE43|Q92961|Q92962	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S389	ENST00000178640.5	37	c.1167	CCDS10224.1	15																																																																																			MAP2K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137764		0.463	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	-	0.00	53	0	G	NM_145162		68061972	+1	tier1	rs149823125	no_errors	ENST00000178640	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.719	A
MBD5	55777	genome.wustl.edu	37	2	149247238	149247238	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:149247238A>C	ENST00000407073.1	+	12	4335	c.3338A>C	c.(3337-3339)cAg>cCg	p.Q1113P	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1346P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1113					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTACAACTCAGATCAGCCCC	0.502																																																	0													134.0	127.0	129.0					2																	149247238		2203	4300	6503	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3338A>C	2.37:g.149247238A>C	ENSP00000386049:p.Gln1113Pro		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.Q1113P	ENST00000407073.1	37	c.3338	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088861	0.36855	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.20598	2.06;2.06	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000018	T	0.32406	0.0828	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.69078	0.994;0.997	D;D	0.78314	0.986;0.991	T	0.16988	-1.0384	10	0.87932	D	0	-3.5957	15.6116	0.76727	1.0:0.0:0.0:0.0	.	1346;1113	E9PHH0;Q9P267	.;MBD5_HUMAN	P	1113;1346	ENSP00000386049:Q1113P;ENSP00000384672:Q1346P	ENSP00000384672:Q1346P	Q	+	2	0	MBD5	148963708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.336000	0.90033	2.276000	0.75962	0.455000	0.32223	CAG	MBD5	-	NULL	ENSG00000204406		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0.00	51	0	A			149247238	+1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	29.23	46	19	SNP	1.000	C
METTL12	751071	genome.wustl.edu	37	11	62434850	62434850	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:62434850C>T	ENST00000532971.1	+	0	1307				RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf83_ENST00000531323.1_5'Flank|SNORA57_ENST00000383870.1_RNA|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12							mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						gaatcaaaacccctgcgctga	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.*327C>T	11.37:g.62434850C>T			B7Z4C1	RNA	SNP	-	NULL	ENST00000532971.1	37	NULL	CCDS41657.1	11																																																																																			METTL12	-	-	ENSG00000214756		0.433	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	-	0.00	20	0	C	NM_001043229		62434850	+1	tier1	-	no_errors	ENST00000398922	ensembl	human	known	74_37	rna	21.43	11	3	SNP	0.000	T
MEX3A	92312	genome.wustl.edu	37	1	156047381	156047381	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:156047381G>A	ENST00000532414.2	-	2	546	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	183	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACGTCCTCCCGTCGCCCTGTC	0.602																																																	0													37.0	41.0	40.0					1																	156047381		2161	4273	6434	SO:0001583	missense	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.547C>T	1.37:g.156047381G>A	ENSP00000432845:p.Arg183Trp			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.R183W	ENST00000532414.2	37	c.547	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527144	0.64860	.	.	ENSG00000254726	ENST00000532414	T	0.31247	1.5	5.15	4.21	0.49690	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.067924	0.56097	D	0.000037	T	0.21307	0.0513	N	0.08118	0	0.47094	D	0.999312	D	0.89917	1.0	D	0.73380	0.98	T	0.29027	-1.0025	10	0.87932	D	0	.	11.4352	0.50064	0.0:0.0:0.6449:0.3551	.	183	A1L020	MEX3A_HUMAN	W	183	ENSP00000432845:R183W	ENSP00000432845:R183W	R	-	1	2	MEX3A	154314005	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.723000	0.47277	1.104000	0.41587	0.462000	0.41574	CGG	MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000254726		0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0.00	48	0	G	NM_001093725		156047381	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A
MFSD2B	388931	genome.wustl.edu	37	2	24239739	24239739	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:24239739C>T	ENST00000406420.3	+	4	388	c.372C>T	c.(370-372)atC>atT	p.I124I	MFSD2B_ENST00000338315.4_Silent_p.I124I	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	124					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCCCTTCATCGCCCTGGCCT	0.667																																																	0													57.0	63.0	61.0					2																	24239739		2062	4176	6238	SO:0001819	synonymous_variant	0				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.372C>T	2.37:g.24239739C>T			B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.I124	ENST00000406420.3	37	c.372	CCDS46228.1	2																																																																																			MFSD2B	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000205639		0.667	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	-	0.00	80	0	C	NM_001080473		24239739	+1	tier1	-	no_errors	ENST00000338315	ensembl	human	known	74_37	silent	37.50	35	21	SNP	0.000	T
MIB2	142678	genome.wustl.edu	37	1	1562725	1562725	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:1562725T>C	ENST00000357210.4	+	12	1814	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	MIB2_ENST00000355826.5_Missense_Mutation_p.L576P|MIB2_ENST00000378710.3_Missense_Mutation_p.L497P|MIB2_ENST00000505820.2_Missense_Mutation_p.L590P|MIB2_ENST00000378708.1_Missense_Mutation_p.L439P|MIB2_ENST00000504599.1_Missense_Mutation_p.L489P|MIB2_ENST00000360522.4_Missense_Mutation_p.L498P|MIB2_ENST00000518681.1_Missense_Mutation_p.L525P|MIB2_ENST00000378712.1_Missense_Mutation_p.L410P|MIB2_ENST00000520777.1_Missense_Mutation_p.L586P	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	533					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTGCCTACCTGGGCCAGGTG	0.662																																																	0													46.0	58.0	54.0					1																	1562725		2087	4207	6294	SO:0001583	missense	0			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1598T>C	1.37:g.1562725T>C	ENSP00000349741:p.Leu533Pro		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.L590P	ENST00000357210.4	37	c.1769		1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822830	0.32237	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	3.92	3.92	0.45320	Ankyrin repeat-containing domain (4);	0.150583	0.44483	D	0.000455	D	0.88644	0.6492	M	0.77486	2.375	0.58432	D	0.999998	D;D;D;D;D;D;D	0.76494	0.993;0.99;0.999;0.999;0.999;0.995;0.986	P;D;D;D;D;D;D	0.73380	0.81;0.95;0.959;0.968;0.98;0.917;0.917	D	0.87274	0.2288	10	0.39692	T	0.17	-0.4791	8.1602	0.31194	0.1931:0.0:0.0:0.8069	.	498;439;410;525;586;519;533	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;.;MIB2_HUMAN	P	586;533;498;497;576;525;590;410;489;439	ENSP00000428660:L586P;ENSP00000349741:L533P;ENSP00000353713:L498P;ENSP00000367982:L497P;ENSP00000348081:L576P;ENSP00000428264:L525P;ENSP00000426103:L590P;ENSP00000367984:L410P;ENSP00000426128:L489P;ENSP00000367980:L439P	ENSP00000348081:L576P	L	+	2	0	MIB2	1552588	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	3.984000	0.56923	1.636000	0.50526	0.374000	0.22700	CTG	MIB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000197530		0.662	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	MIB2	HGNC	protein_coding			0.00	63	0	T	NM_080875		1562725	+1			no_errors	ENST00000505820	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	C
LINC00152	112597	genome.wustl.edu	37	2	112199091	112199091	+	IGR	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:112199091G>A								AC068491.3 (57251 upstream) : AC017002.1 (49758 downstream)																							CTACCTCGTCGAAAGCTATCT	0.423																																																	0																																										SO:0001628	intergenic_variant	0																															2.37:g.112199091G>A				RNA	SNP	-	NULL		37	NULL		2																																																																																			MIR4435-1HG	-	-	ENSG00000172965	0	0.423					MIR4435-1HG	HGNC			-	0.00	34	0	G			112199091	-1	tier1	-	no_errors	ENST00000603310	ensembl	human	known	74_37	rna	69.39	15	34	SNP	0.000	A
MMP24	10893	genome.wustl.edu	37	20	33862215	33862215	+	Missense_Mutation	SNP	C	C	T	rs372291830		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33862215C>T	ENST00000246186.6	+	9	1826	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	581		Cleavage; by furin. {ECO:0000250}.			cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GAAGGAGCGGCGGCTGCCCCA	0.642																																																	0													80.0	97.0	92.0					20																	33862215		2127	4224	6351	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1741C>T	20.37:g.33862215C>T	ENSP00000246186:p.Arg581Trp		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R581W	ENST00000246186.6	37	c.1741	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037035	0.75617	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.32023	1.47	4.97	2.94	0.34122	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.298413	0.32273	N	0.006323	T	0.39410	0.1077	L	0.34521	1.04	0.40599	D	0.981568	D	0.61697	0.99	P	0.61658	0.892	T	0.23868	-1.0176	10	0.66056	D	0.02	.	12.7128	0.57100	0.3001:0.6999:0.0:0.0	.	581	Q9Y5R2	MMP24_HUMAN	W	581;529	ENSP00000246186:R581W	ENSP00000246186:R581W	R	+	1	2	MMP24	33325629	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.973000	0.63763	0.453000	0.26858	0.563000	0.77884	CGG	MMP24	-	pfam_Pept_M10A_metallopeptidase_C	ENSG00000125966		0.642	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	-	0.00	40	0	C	NM_006690		33862215	+1	tier1	-	no_errors	ENST00000246186	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	T
MTNR1B	4544	genome.wustl.edu	37	11	92714995	92714995	+	Silent	SNP	G	G	T	rs200681545	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:92714995G>T	ENST00000257068.2	+	2	612	c.606G>T	c.(604-606)gcG>gcT	p.A202A		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	202					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607																																																	0													62.0	59.0	60.0					11																	92714995		2201	4298	6499	SO:0001819	synonymous_variant	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.606G>T	11.37:g.92714995G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.A202	ENST00000257068.2	37	c.606	CCDS8290.1	11																																																																																			MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn	ENSG00000134640		0.607	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1		0.00	44	0	G			92714995	+1			no_errors	ENST00000257068	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	T
MTR	4548	genome.wustl.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																																	0										61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.K700fs	ENST00000366577.5	37	c.2093	CCDS1614.1	1																																																																																			MTR	-	pfam_Cbl-bd_cap,superfamily_Cbl-bd_cap,pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	52	0	A	NM_000254		237024474	+1	tier1		no_errors	ENST00000366577	ensembl	human	known	74_37	frame_shift_del	15.79	32	6	DEL	0.988	-
MUC16	94025	genome.wustl.edu	37	19	9085978	9085978	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9085978A>C	ENST00000397910.4	-	1	6040	c.5837T>G	c.(5836-5838)gTc>gGc	p.V1946G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1946	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTAGAAATGACTTCTTCCAC	0.488																																																	0													194.0	191.0	192.0					19																	9085978		2070	4202	6272	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5837T>G	19.37:g.9085978A>C	ENSP00000381008:p.Val1946Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.V1946G	ENST00000397910.4	37	c.5837	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	8.042	0.764011	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	0.235	0.235	0.15431	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.59056	0.851	T	0.45527	-0.9255	7	0.87932	D	0	.	.	.	.	.	1946	B5ME49	.	G	1946	ENSP00000381008:V1946G	ENSP00000381008:V1946G	V	-	2	0	MUC16	8946978	0.008000	0.16893	0.719000	0.30619	0.722000	0.41435	0.125000	0.15749	0.263000	0.21812	0.260000	0.18958	GTC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	56	0	A	NM_024690		9085978	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	75.76	16	50	SNP	0.794	C
MUC16	94025	genome.wustl.edu	37	19	9086331	9086331	+	Silent	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9086331T>A	ENST00000397910.4	-	1	5687	c.5484A>T	c.(5482-5484)acA>acT	p.T1828T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1828	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATCCATGGTGTCACCTCCA	0.483																																																	0													159.0	154.0	156.0					19																	9086331		1964	4155	6119	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5484A>T	19.37:g.9086331T>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T1828	ENST00000397910.4	37	c.5484	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	51	0	T	NM_024690		9086331	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.003	A
MUC19	283463	genome.wustl.edu	37	12	40924259	40924259	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:40924259G>A	ENST00000474954.1	+	10	3074		c.e10-1		MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						CTCATTTGCAGAAGCCACAAC	0.418																																																	0																																										SO:0001630	splice_region_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.3075-1G>A	12.37:g.40924259G>A			Q8NA85	Splice_Site	SNP	-	NULL	ENST00000474954.1	37	c.NULL		12	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304958	0.05495	.	.	ENSG00000205592	ENST00000424466	.	.	.	0.82	0.82	0.18793	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9428	0.13975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC19	39210526	0.034000	0.19679	0.009000	0.14445	0.021000	0.10359	2.125000	0.42016	0.714000	0.32081	0.467000	0.42956	.	MUC19	-	-	ENSG00000205592		0.418	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	-	0.00	66	0	G	XM_003403524	Intron	40924259	+1	tier1	-	no_errors	ENST00000474954	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	0.012	A
MUC6	4588	genome.wustl.edu	37	11	1016198	1016200	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:1016198_1016200delAGA	ENST00000421673.2	-	31	6651_6653	c.6601_6603delTCT	c.(6601-6603)tctdel	p.S2201del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2201	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCAGCTGGAGAAGAAGGAAAA	0.557																																																	0																																										SO:0001651	inframe_deletion	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6601_6603delTCT	11.37:g.1016201_1016203delAGA	ENSP00000406861:p.Ser2201del		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2201in_frame_del	ENST00000421673.2	37	c.6603_6601	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0.00	28	0	AGA	XM_290540		1016200	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	in_frame_del	42.86	12	9	DEL	0.001:0.010:0.003	-
LINC01317	104355287	genome.wustl.edu	37	2	33951149	33951150	+	lincRNA	INS	-	-	TTA	rs57321494|rs72402832|rs71409648	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:33951149_33951150insTTA	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							tatttatttacttatttctttC	0.421														2380	0.47524	0.4085	0.621	5008	,	,		15013	0.4345		0.5189	False		,,,				2504	0.4591																0																																												0																															2.37:g.33951150_33951152dupTTA				RNA	INS	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.421	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1		0.00	10	0	0			33951150	-1			no_errors	ENST00000474610	ensembl	human	known	74_37	rna	33.33	4	2	INS	0.333:0.331	TTA
MYH1	4619	genome.wustl.edu	37	17	10404070	10404070	+	Splice_Site	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:10404070C>A	ENST00000226207.5	-	28	3833		c.e28-1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAAGGTTTCCCTGCATTCAAA	0.423																																																	0													116.0	105.0	109.0					17																	10404070		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3739-1G>T	17.37:g.10404070C>A			Q14CA4|Q9Y622	Splice_Site	SNP	-	e26-1	ENST00000226207.5	37	c.3739-1	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838578	0.91117	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6413	0.95758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10344795	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.797000	0.85911	2.716000	0.92895	0.650000	0.86243	.	MYH1	-	-	ENSG00000109061		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0.00	69	0	C	NM_005963	Intron	10404070	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	splice_site	5.45	52	3	SNP	1.000	A
MYH7	4625	genome.wustl.edu	37	14	23886717	23886717	+	Missense_Mutation	SNP	C	C	T	rs397516211		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:23886717C>T	ENST00000355349.3	-	31	4510	c.4348G>A	c.(4348-4350)Gac>Aac	p.D1450N	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1450					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCACCTTGTCGAAGTTCCTC	0.622																																																	0													84.0	82.0	82.0					14																	23886717		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4348G>A	14.37:g.23886717C>T	ENSP00000347507:p.Asp1450Asn		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1450N	ENST00000355349.3	37	c.4348	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.425772	0.96131	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82803	-1.65	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.93766	0.8007	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95091	0.8222	9	0.66056	D	0.02	.	18.4709	0.90774	0.0:1.0:0.0:0.0	.	1450	P12883	MYH7_HUMAN	N	1450;1455	ENSP00000347507:D1450N	ENSP00000347507:D1450N	D	-	1	0	MYH7	22956557	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	5.489000	0.66875	2.609000	0.88269	0.561000	0.74099	GAC	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	28	0	C	NM_000257		23886717	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	T
MYO1F	4542	genome.wustl.edu	37	19	8587572	8587572	+	Missense_Mutation	SNP	G	G	A	rs368617557		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:8587572G>A	ENST00000338257.8	-	26	3263	c.2996C>T	c.(2995-2997)cCg>cTg	p.P999L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	999					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTCTGAGGGCGGACGTGCCCG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		12827	0.0		0.001	False		,,,				2504	0.0																0								G	LEU/PRO	0,3866		0,0,1933	25.0	27.0	26.0		2996	2.2	0.8	19		26	2,8270		0,2,4134	no	missense	MYO1F	NM_012335.3	98	0,2,6067	AA,AG,GG		0.0242,0.0,0.0165	benign	999/1099	8587572	2,12136	1933	4136	6069	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2996C>T	19.37:g.8587572G>A	ENSP00000344871:p.Pro999Leu		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.P999L	ENST00000338257.8	37	c.2996	CCDS42494.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.038|4.038	0.004553|0.004553	0.07866|0.07866	0.0|0.0	2.42E-4|2.42E-4	ENSG00000142347|ENSG00000142347	ENST00000338257|ENST00000305795	D|.	0.87729|.	-2.29|.	5.48|5.48	2.15|2.15	0.27550|0.27550	.|.	.|0.301734	.|0.20824	.|N	.|0.085009	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.22421|0.22421	0.69|0.69	0.40511|0.40511	D|D	0.980738|0.980738	B|.	0.10296|.	0.003|.	B|.	0.09377|.	0.004|.	T|T	0.37079|0.37079	-0.9721|-0.9721	9|7	0.34782|0.56958	T|D	0.22|0.05	.|.	9.9194|9.9194	0.41455|0.41455	0.1361:0.0:0.7476:0.1163|0.1361:0.0:0.7476:0.1163	.|.	999|.	O00160|.	MYO1F_HUMAN|.	L|C	999|1043	ENSP00000344871:P999L|.	ENSP00000344871:P999L|ENSP00000304899:R1043C	P|R	-|-	2|1	0|0	MYO1F|MYO1F	8493572|8493572	0.926000|0.926000	0.31397|0.31397	0.830000|0.830000	0.32933|0.32933	0.008000|0.008000	0.06430|0.06430	1.486000|1.486000	0.35530|0.35530	0.034000|0.034000	0.15491|0.15491	-2.824000|-2.824000	0.00108|0.00108	CCG|CGC	MYO1F	-	NULL	ENSG00000142347		0.697	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0.00	84	0	G			8587572	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	79.31	24	92	SNP	0.986	A
MYO3A	53904	genome.wustl.edu	37	10	26436474	26436474	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:26436474C>G	ENST00000265944.5	+	23	2787	c.2621C>G	c.(2620-2622)cCt>cGt	p.P874R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	874	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P874L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAACCACCCTCTGACCAAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											146.0	124.0	131.0					10																	26436474		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2621C>G	10.37:g.26436474C>G	ENSP00000265944:p.Pro874Arg		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P874R	ENST00000265944.5	37	c.2621	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549931	0.86127	.	.	ENSG00000095777	ENST00000265944	D	0.86769	-2.17	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.047920	0.85682	D	0.000000	D	0.91898	0.7435	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91083	0.4901	10	0.45353	T	0.12	.	19.5226	0.95192	0.0:1.0:0.0:0.0	.	874	Q8NEV4	MYO3A_HUMAN	R	874	ENSP00000265944:P874R	ENSP00000265944:P874R	P	+	2	0	MYO3A	26476480	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.776000	0.85560	2.690000	0.91761	0.555000	0.69702	CCT	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0.00	22	0	C	NM_017433		26436474	+1			no_errors	ENST00000265944	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	G
MYOM2	9172	genome.wustl.edu	37	8	2054306	2054306	+	Missense_Mutation	SNP	G	G	T	rs568244508		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:2054306G>T	ENST00000262113.4	+	23	3058	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D398Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	973	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D973N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAGAATCCGGATAAGGAGGA	0.413																																																	1	Substitution - Missense(1)	lung(1)											113.0	113.0	113.0					8																	2054306		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2917G>T	8.37:g.2054306G>T	ENSP00000262113:p.Asp973Tyr		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D973Y	ENST00000262113.4	37	c.2917	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841747	0.51057	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.41065	1.01;1.01	5.43	5.43	0.79202	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200909	0.49916	D	0.000121	T	0.62792	0.2457	M	0.67953	2.075	0.50313	D	0.999863	D	0.76494	0.999	P	0.62649	0.905	T	0.64786	-0.6325	10	0.62326	D	0.03	.	19.242	0.93888	0.0:0.0:1.0:0.0	.	973	P54296	MYOM2_HUMAN	Y	973;398	ENSP00000262113:D973Y;ENSP00000428396:D398Y	ENSP00000262113:D973Y	D	+	1	0	MYOM2	2041713	1.000000	0.71417	0.421000	0.26609	0.034000	0.12701	9.503000	0.97984	2.536000	0.85505	0.643000	0.83706	GAT	MYOM2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000036448		0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0.00	39	0	G	NM_003970		2054306	+1			no_errors	ENST00000262113	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.999	T
NCAM1	4684	genome.wustl.edu	37	11	113104002	113104002	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:113104002A>C	ENST00000533760.1	+	12	1871	c.1272A>C	c.(1270-1272)gaA>gaC	p.E424D	NCAM1_ENST00000316851.7_Missense_Mutation_p.E542D|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E551D	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	552	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGTTGGTGAAGAAGTATGGC	0.522																																																	0													81.0	85.0	84.0					11																	113104002		2092	4215	6307	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1272A>C	11.37:g.113104002A>C	ENSP00000473281:p.Glu424Asp		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.E542D	ENST00000533760.1	37	c.1626		11	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451819	0.43531	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.57107	0.42;0.42	5.84	1.56	0.23342	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.317042	0.29233	U	0.012752	T	0.42562	0.1208	.	.	.	0.80722	D	1	B;B;B;B	0.28760	0.221;0.15;0.18;0.051	B;B;B;B	0.28709	0.054;0.054;0.09;0.093	T	0.24870	-1.0148	9	0.49607	T	0.09	-27.701	10.8396	0.46706	0.4113:0.0:0.5887:0.0	.	552;542;552;542	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	D	424;551;542	ENSP00000384055:E551D;ENSP00000318472:E542D	ENSP00000318472:E542D	E	+	3	2	NCAM1	112609212	0.995000	0.38212	0.990000	0.47175	0.913000	0.54294	0.297000	0.19101	0.006000	0.14734	0.533000	0.62120	GAA	NCAM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149294		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2		0.00	40	0	A	NM_000615		113104002	+1			no_errors	ENST00000316851	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.998	C
NCF4	4689	genome.wustl.edu	37	22	37273671	37273671	+	Splice_Site	SNP	C	C	T	rs200598824		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:37273671C>T	ENST00000248899.6	+	10	1010	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	276	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CCCATGCAGGCGGGAGTTCCA	0.557																																																	0													51.0	54.0	53.0					22																	37273671		2203	4300	6503	SO:0001630	splice_region_variant	0			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.825-1C>T	22.37:g.37273671C>T			A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.R276W	ENST00000248899.6	37	c.826	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766972	0.69878	.	.	ENSG00000100365	ENST00000248899	T	0.23950	1.88	5.44	4.38	0.52667	Phox/Bem1p (2);	.	.	.	.	T	0.45776	0.1359	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.45687	-0.9244	9	0.87932	D	0	.	13.9157	0.63895	0.1515:0.8485:0.0:0.0	.	276	Q15080	NCF4_HUMAN	W	276	ENSP00000248899:R276W	ENSP00000248899:R276W	R	+	1	2	NCF4	35603617	0.976000	0.34144	1.000000	0.80357	0.817000	0.46193	0.031000	0.13710	2.556000	0.86216	0.650000	0.86243	CGG	NCF4	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000100365		0.557	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	-	0.00	62	0	C	NM_000631	Missense_Mutation	37273671	+1	tier1	rs200598824	no_errors	ENST00000248899	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T
NCOA6	23054	genome.wustl.edu	37	20	33329232	33329232	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33329232C>T	ENST00000374796.2	-	12	7398	c.4828G>A	c.(4828-4830)Gct>Act	p.A1610T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1610T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1610					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATGTGTTAGCTGAAGTTGTG	0.458																																																	0													120.0	108.0	112.0					20																	33329232		2203	4300	6503	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4828G>A	20.37:g.33329232C>T	ENSP00000363929:p.Ala1610Thr		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.A1610T	ENST00000374796.2	37	c.4828	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023616	0.19433	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23950	1.88;1.88	5.25	4.29	0.51040	.	0.159715	0.44097	D	0.000483	T	0.14227	0.0344	N	0.12182	0.205	0.30771	N	0.743032	B	0.26081	0.141	B	0.24974	0.057	T	0.11348	-1.0591	10	0.17832	T	0.49	-5.5528	12.9277	0.58270	0.4262:0.5738:0.0:0.0	.	1610	Q14686	NCOA6_HUMAN	T	1610	ENSP00000363929:A1610T;ENSP00000351894:A1610T	ENSP00000351894:A1610T	A	-	1	0	NCOA6	32792893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.292000	0.33342	1.523000	0.49018	0.591000	0.81541	GCT	NCOA6	-	NULL	ENSG00000198646		0.458	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0.00	70	0	C	NM_014071		33329232	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	missense	47.22	38	34	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	16042327	16042327	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:16042327C>T	ENST00000268712.3	-	12	1604	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	NCOR1_ENST00000395851.1_Silent_p.K449K|RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395848.1_Silent_p.K340K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	449	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		attaCTTGTCCTTAAAGATCT	0.294																																																	0													29.0	27.0	28.0					17																	16042327		2183	4255	6438	SO:0001819	synonymous_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1347G>A	17.37:g.16042327C>T			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K449	ENST00000268712.3	37	c.1347	CCDS11175.1	17																																																																																			NCOR1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000141027		0.294	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5		0.00	25	0	C	NM_006311		16042327	-1			no_errors	ENST00000268712	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.998	T
NDST1	3340	genome.wustl.edu	37	5	149900889	149900889	+	Missense_Mutation	SNP	A	A	T	rs145198292	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:149900889A>T	ENST00000261797.6	+	2	575	c.73A>T	c.(73-75)Atc>Ttc	p.I25F	NDST1_ENST00000523767.1_Missense_Mutation_p.I25F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	25				FIFCL -> QVVCQ (in Ref. 4; AAH12888). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGTTCATCTTCTGCCT	0.642																																																	0													135.0	118.0	124.0					5																	149900889		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.73A>T	5.37:g.149900889A>T	ENSP00000261797:p.Ile25Phe		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.I25F	ENST00000261797.6	37	c.73	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	A	8.606	0.887966	0.17540	.	.	ENSG00000070614	ENST00000522491;ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.44881	0.91;0.93;1.25	5.22	-9.95	0.00446	.	1.293400	0.04900	N	0.451247	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30973	0.052;0.302;0.052	B;B;B	0.28784	0.094;0.055;0.063	T	0.05517	-1.0880	10	0.20519	T	0.43	.	3.4464	0.07482	0.4327:0.1717:0.3078:0.0878	.	25;25;25	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	F	25	ENSP00000427813:I25F;ENSP00000428604:I25F;ENSP00000261797:I25F	ENSP00000261797:I25F	I	+	1	0	NDST1	149881082	0.002000	0.14202	0.004000	0.12327	0.297000	0.27493	-0.277000	0.08502	-2.842000	0.00334	-3.172000	0.00057	ATC	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0.00	49	0	A	NM_001543		149900889	+1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	90.91	6	60	SNP	0.001	T
NID1	4811	genome.wustl.edu	37	1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697																																																	1	Substitution - Missense(1)	prostate(1)											20.0	20.0	20.0					1																	236156998		2200	4297	6497	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2702G>A	1.37:g.236156998C>T	ENSP00000264187:p.Arg901His		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R901H	ENST00000264187.6	37	c.2702	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023124	0.93462	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.64991	-0.13;-0.13	5.69	4.78	0.61160	Thyroglobulin type-1 (6);	0.102238	0.64402	D	0.000002	T	0.76779	0.4035	M	0.79693	2.465	0.28115	N	0.930829	D;D	0.71674	0.998;0.996	P;P	0.61722	0.819;0.893	T	0.73069	-0.4099	10	0.45353	T	0.12	.	14.0528	0.64749	0.0:0.9269:0.0:0.0731	.	768;901	P14543-2;P14543	.;NID1_HUMAN	H	901;768	ENSP00000264187:R901H;ENSP00000355554:R768H	ENSP00000264187:R901H	R	-	2	0	NID1	234223621	0.997000	0.39634	0.158000	0.22627	0.980000	0.70556	3.508000	0.53378	1.404000	0.46819	0.555000	0.69702	CGC	NID1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000116962		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0.00	26	0	C	NM_002508		236156998	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.949	T
NIPBL	25836	genome.wustl.edu	37	5	37020917	37020917	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:37020917A>T	ENST00000282516.8	+	27	5765	c.5266A>T	c.(5266-5268)Att>Ttt	p.I1756F	NIPBL_ENST00000448238.2_Missense_Mutation_p.I1756F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1756					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCTTGCTTGATTGTTCGATA	0.343																																																	0													232.0	225.0	228.0					5																	37020917		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5266A>T	5.37:g.37020917A>T	ENSP00000282516:p.Ile1756Phe		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1756F	ENST00000282516.8	37	c.5266	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801689	0.90538	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66995	-0.24;-0.24	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.74674	0.952;0.984	D	0.84921	0.0854	10	0.72032	D	0.01	.	16.0724	0.80943	1.0:0.0:0.0:0.0	.	1756;1756	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	1756	ENSP00000282516:I1756F;ENSP00000406266:I1756F	ENSP00000282516:I1756F	I	+	1	0	NIPBL	37056674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.869000	0.69613	2.189000	0.69895	0.528000	0.53228	ATT	NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	50	0	A	NM_015384		37020917	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	T
NLGN4X	57502	genome.wustl.edu	37	X	5827149	5827149	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:5827149A>G	ENST00000381095.3	-	4	1384	c.757T>C	c.(757-759)Tcg>Ccg	p.S253P	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S253P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S253P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S253P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S273P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	253					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCAGCCCCCGAGCCAAAGATG	0.582																																																	0													69.0	64.0	66.0					X																	5827149		2203	4300	6503	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.757T>C	X.37:g.5827149A>G	ENSP00000370485:p.Ser253Pro		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.S273P	ENST00000381095.3	37	c.817	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534498	0.45073	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	T	0.78997	0.4372	M	0.74546	2.27	0.52501	D	0.999958	P;D;D	0.89917	0.903;1.0;0.999	P;D;D	0.81914	0.561;0.995;0.921	T	0.79999	-0.1566	9	0.59425	D	0.04	.	10.9666	0.47416	1.0:0.0:0.0:0.0	.	310;253;273	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	P	253;273;253;253;253	ENSP00000370485:S253P;ENSP00000370483:S273P;ENSP00000275857:S253P;ENSP00000370482:S253P;ENSP00000439203:S253P	ENSP00000275857:S253P	S	-	1	0	NLGN4X	5837149	1.000000	0.71417	0.778000	0.31720	0.272000	0.26649	5.943000	0.70211	1.222000	0.43521	0.486000	0.48141	TCG	NLGN4X	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000146938		0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0.00	82	0	A	NM_020742		5827149	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	12.70	54	8	SNP	1.000	G
NLRC5	84166	genome.wustl.edu	37	16	57092939	57092939	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:57092939C>T	ENST00000262510.6	+	29	4111	c.3886C>T	c.(3886-3888)Ccc>Tcc	p.P1296S	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.P1267S|NLRC5_ENST00000436936.1_Missense_Mutation_p.P1296S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1267S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1296					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAGACACTGCCCTCCTGCCC	0.572																																																	0													227.0	207.0	214.0					16																	57092939		2198	4300	6498	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3886C>T	16.37:g.57092939C>T	ENSP00000262510:p.Pro1296Ser		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.P1296S	ENST00000262510.6	37	c.3886	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.063|0.063	-1.218980|-1.218980	0.01542|0.01542	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.50277	.|0.75;5.67;0.75;5.67;0.75	4.73|4.73	2.63|2.63	0.31362|0.31362	.|.	.|.	.|.	.|.	.|.	T|T	0.23210|0.23210	0.0561|0.0561	N|N	0.11000|0.11000	0.08|0.08	0.21697|0.21697	N|N	0.999585|0.999585	.|B;B;B;B	.|0.16166	.|0.004;0.007;0.016;0.004	.|B;B;B;B	.|0.16289	.|0.004;0.015;0.01;0.003	T|T	0.21759|0.21759	-1.0236|-1.0236	5|9	.|0.11485	.|T	.|0.65	.|.	6.0599|6.0599	0.19832|0.19832	0.0:0.7637:0.0:0.2363|0.0:0.7637:0.0:0.2363	.|.	.|980;1267;1296;1296	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	V|S	1047;47|1296;1267;1296;739;1267;772	.|ENSP00000262510:P1296S;ENSP00000308886:P1267S;ENSP00000389739:P1296S;ENSP00000441727:P1267S;ENSP00000441597:P772S	.|ENSP00000262510:P1296S	A|P	+|+	2|1	0|0	NLRC5|NLRC5	55650440|55650440	0.409000|0.409000	0.25368|0.25368	0.789000|0.789000	0.31954|0.31954	0.010000|0.010000	0.07245|0.07245	0.619000|0.619000	0.24388|0.24388	1.219000|1.219000	0.43474|0.43474	-0.279000|-0.279000	0.10071|0.10071	GCC|CCC	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0.00	36	0	C	NM_032206		57092939	+1			no_errors	ENST00000262510	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.779	T
NLRP7	199713	genome.wustl.edu	37	19	55450465	55450465	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:55450465G>A	ENST00000590030.1	-	3	1762	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	NLRP7_ENST00000588756.1_Silent_p.C574C|NLRP7_ENST00000328092.5_Silent_p.C574C|NLRP7_ENST00000340844.2_Silent_p.C574C|NLRP7_ENST00000446217.1_Silent_p.C602C|NLRP7_ENST00000448121.2_Silent_p.C574C|NLRP7_ENST00000592784.1_Silent_p.C574C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	574							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACTCATACAGGCAGCCCAAGA	0.493																																																	0													81.0	78.0	79.0					19																	55450465		2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1722C>T	19.37:g.55450465G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C602	ENST00000590030.1	37	c.1806	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0.00	46	0	G	NM_139176		55450465	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	16.07	47	9	SNP	0.000	A
NOL4	8715	genome.wustl.edu	37	18	31802193	31802193	+	Intron	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:31802193C>A	ENST00000261592.5	-	1	562				NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000538587.1_5'Flank|NOL4_ENST00000590846.1_5'Flank|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTAGAGCCACCCCAGAAAAAG	0.517																																																	0																																										SO:0001627	intron_variant	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.264+760G>T	18.37:g.31802193C>A			B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	RNA	SNP	-	NULL	ENST00000261592.5	37	NULL	CCDS11907.2	18																																																																																			NOL4	-	-	ENSG00000101746		0.517	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	-	0.00	9	0	C	NM_003787		31802193	-1	tier1	-	no_errors	ENST00000587971	ensembl	human	known	74_37	rna	81.82	2	9	SNP	0.986	A
NOX3	50508	genome.wustl.edu	37	6	155749958	155749958	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:155749958T>C	ENST00000159060.2	-	9	1217	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	372	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGGAGGGCCTGTCCCTCTGC	0.527																																																	0													51.0	55.0	54.0					6																	155749958		2203	4300	6503	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1115A>G	6.37:g.155749958T>C	ENSP00000159060:p.Gln372Arg		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Q372R	ENST00000159060.2	37	c.1115	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425278	0.25639	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.67	-4.67	0.03319	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.995434	0.08139	N	0.991942	T	0.81692	0.4876	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.68823	-0.5307	10	0.20046	T	0.44	0.524	1.7801	0.03030	0.2023:0.1282:0.372:0.2975	.	372	Q9HBY0	NOX3_HUMAN	R	372	ENSP00000159060:Q372R	ENSP00000159060:Q372R	Q	-	2	0	NOX3	155791650	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	-0.831000	0.04405	-0.202000	0.10268	-0.380000	0.06706	CAG	NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.527	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0.00	77	0	T			155749958	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.000	C
NRG1	3084	genome.wustl.edu	37	8	32611911	32611911	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:32611911A>C	ENST00000405005.3	+	8	722	c.722A>C	c.(721-723)aAg>aCg	p.K241T	NRG1_ENST00000521670.1_Missense_Mutation_p.K241T|NRG1_ENST00000519301.1_Missense_Mutation_p.K191T|NRG1_ENST00000539990.1_Missense_Mutation_p.K84T|NRG1_ENST00000287842.3_Missense_Mutation_p.K238T|NRG1_ENST00000338921.4_Missense_Mutation_p.K249T|NRG1_ENST00000287845.5_Missense_Mutation_p.K212T|NRG1_ENST00000523079.1_Missense_Mutation_p.K238T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.K246T			Q02297	NRG1_HUMAN	neuregulin 1	241					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTACCAGAAGAGAGTGCTG	0.527																																																	0													218.0	144.0	169.0					8																	32611911		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.722A>C	8.37:g.32611911A>C	ENSP00000384620:p.Lys241Thr		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.K249T	ENST00000405005.3	37	c.746	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	19.76	3.886959	0.72410	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000518084;ENST00000522402;ENST00000519240;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;2.61;0.05	5.47	5.47	0.80525	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.60845	1.875	0.80722	D	1	D;D;P;B;P;P;B;B;B;B;P	0.76494	0.998;0.999;0.747;0.429;0.484;0.747;0.017;0.286;0.22;0.429;0.712	D;D;P;B;P;P;B;B;B;B;P	0.87578	0.996;0.998;0.679;0.396;0.531;0.781;0.015;0.396;0.264;0.396;0.525	T	0.78924	-0.2012	10	0.87932	D	0	-0.1043	15.5539	0.76177	1.0:0.0:0.0:0.0	.	84;87;238;212;246;237;249;238;241;246;241	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	T	208;191;314;238;249;246;241;212;238;241;241;92;87;84;84	ENSP00000430053:K208T;ENSP00000429582:K191T;ENSP00000429067:K314T;ENSP00000430120:K238T;ENSP00000343395:K249T;ENSP00000349275:K246T;ENSP00000287840:K241T;ENSP00000287845:K212T;ENSP00000287842:K238T;ENSP00000384620:K241T;ENSP00000428828:K241T;ENSP00000430862:K87T;ENSP00000428411:K84T;ENSP00000439276:K84T	ENSP00000287840:K241T	K	+	2	0	NRG1	32731453	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.077000	0.62373	0.528000	0.53228	AAG	NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0.00	60	0	A			32611911	+1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	48.65	18	18	SNP	1.000	C
NRXN3	9369	genome.wustl.edu	37	14	79746672	79746672	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:79746672G>A	ENST00000557594.1	+	1	991	c.38G>A	c.(37-39)cGc>cAc	p.R13H	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.R13H|NRXN3_ENST00000281127.7_Missense_Mutation_p.R13H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	13					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCCCTCCTCGCCGGCCGGCC	0.562																																																	0													144.0	141.0	142.0					14																	79746672		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.38G>A	14.37:g.79746672G>A	ENSP00000451672:p.Arg13His		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.R13H	ENST00000557594.1	37	c.38		14	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664476	0.67700	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.37915	1.29;1.36;1.17	5.58	5.58	0.84498	.	.	.	.	.	T	0.38558	0.1045	N	0.08118	0	0.80722	D	1	P;D;D	0.59767	0.856;0.986;0.976	B;D;P	0.64687	0.276;0.928;0.848	T	0.33954	-0.9848	8	.	.	.	.	17.8182	0.88642	0.0:0.0:1.0:0.0	.	13;13;13	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	H	13	ENSP00000451672:R13H;ENSP00000281127:R13H;ENSP00000394426:R13H	.	R	+	2	0	NRXN3	78816425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.146000	0.77373	2.647000	0.89833	0.558000	0.71614	CGC	NRXN3	-	NULL	ENSG00000021645		0.562	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0.00	79	0	G	NM_001105250		79746672	+1	tier1	-	no_errors	ENST00000428277	ensembl	human	known	74_37	missense	29.41	48	20	SNP	1.000	A
NT5M	56953	genome.wustl.edu	37	17	17209944	17209944	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:17209944G>T	ENST00000389022.4	+	2	571	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	119					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAAGGAGATGGCCAGCCTACA	0.517																																																	0													85.0	89.0	88.0					17																	17209944		2203	4300	6503	SO:0001583	missense	0			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.355G>T	17.37:g.17209944G>T	ENSP00000373674:p.Ala119Ser			Missense_Mutation	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.A119S	ENST00000389022.4	37	c.355	CCDS32581.1	17	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275571	0.23307	.	.	ENSG00000205309	ENST00000446264;ENST00000389022	T	0.43294	0.95	5.26	5.26	0.73747	HAD-like domain (2);	0.258334	0.43919	N	0.000507	T	0.25457	0.0619	N	0.12502	0.225	0.47862	D	0.999533	B;B;B	0.17038	0.0;0.0;0.02	B;B;B	0.25506	0.012;0.005;0.061	T	0.08659	-1.0711	10	0.08837	T	0.75	-21.1764	14.4728	0.67529	0.0:0.0:0.8527:0.1472	.	119;119;119	Q2I378;Q9NPB1;F6S3X3	.;NT5M_HUMAN;.	S	119	ENSP00000373674:A119S	ENSP00000373674:A119S	A	+	1	0	NT5M	17150669	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.454000	0.60068	2.451000	0.82905	0.537000	0.68136	GCC	NT5M	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	ENSG00000205309		0.517	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5M	HGNC	protein_coding	OTTHUMT00000446045.1		0.00	43	0	G			17209944	+1			no_errors	ENST00000389022	ensembl	human	known	74_37	missense	7.41	24	2	SNP	1.000	T
NXPE2	120406	genome.wustl.edu	37	11	114577404	114577404	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:114577404T>C	ENST00000389586.4	+	6	1622	c.1432T>C	c.(1432-1434)Ttg>Ctg	p.L478L	NXPE2_ENST00000375475.5_Intron	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	478						integral component of membrane (GO:0016021)											ACGTCTATTCTTGCGAAGCCC	0.428																																																	0													77.0	64.0	68.0					11																	114577404		692	1591	2283	SO:0001819	synonymous_variant	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.1432T>C	11.37:g.114577404T>C			Q2NKI8	Silent	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.L478	ENST00000389586.4	37	c.1432	CCDS44738.1	11																																																																																			NXPE2	-	NULL	ENSG00000204361		0.428	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	HGNC	protein_coding	OTTHUMT00000399181.1	-	0.00	69	0	T	NM_182495		114577404	+1	tier1	-	no_errors	ENST00000389586	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.001	C
OBSCN	84033	genome.wustl.edu	37	1	228487826	228487826	+	Intron	SNP	C	C	T	rs565361765		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:228487826C>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1263L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S4573L|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000602685.1_3'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGACCTCGGCCACGCTC	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20513	0.0		0.0	False		,,,				2504	0.0																0													101.0	82.0	88.0					1																	228487826		876	1991	2867	SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+5082C>T	1.37:g.228487826C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S1263L	ENST00000422127.1	37	c.3788	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266801	0.40095	.	.	ENSG00000154358	ENST00000366707	T	0.68765	-0.35	4.37	1.17	0.20885	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.50206	-0.8855	6	0.44086	T	0.13	.	5.0011	0.14264	0.1248:0.6076:0.1114:0.1562	.	.	.	.	L	1263	ENSP00000355668:S1263L	ENSP00000355668:S1263L	S	+	2	0	OBSCN	226554449	0.002000	0.14202	0.014000	0.15608	0.082000	0.17680	1.679000	0.37597	0.465000	0.27167	-0.258000	0.10820	TCG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	37	0	C	NM_052843		228487826	+1	tier1	-	no_errors	ENST00000366707	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	T
OLFML2A	169611	genome.wustl.edu	37	9	127549514	127549514	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:127549514C>T	ENST00000373580.3	+	2	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	117					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCGAGCTCCTCAAGGTAGACT	0.572																																																	0													49.0	56.0	54.0					9																	127549514		2001	4173	6174	SO:0001819	synonymous_variant	0			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.351C>T	9.37:g.127549514C>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.L117	ENST00000373580.3	37	c.351	CCDS6857.2	9																																																																																			OLFML2A	-	NULL	ENSG00000185585		0.572	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	-	0.00	33	0	C	NM_182487		127549514	+1	tier1	-	no_errors	ENST00000373580	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T
OR10X1	128367	genome.wustl.edu	37	1	158549548	158549548	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:158549548A>G	ENST00000368150.1	-	1	141	c.142T>C	c.(142-144)Ttt>Ctt	p.F48L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TAGAGACAAAAGAAGACCACA	0.438																																																	0													126.0	125.0	126.0					1																	158549548		2203	4300	6503	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.142T>C	1.37:g.158549548A>G	ENSP00000357132:p.Phe48Leu		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F48L	ENST00000368150.1	37	c.142	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	A	2.291	-0.362533	0.05103	.	.	ENSG00000186400	ENST00000368150	T	0.00287	8.29	4.99	-1.43	0.08884	.	0.593583	0.15119	N	0.279519	T	0.00012	0.0000	N	0.00201	-1.865	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.25641	-1.0126	10	0.02654	T	1	.	10.819	0.46593	0.5061:0.0:0.4939:0.0	.	48	Q8NGY0	O10X1_HUMAN	L	48	ENSP00000357132:F48L	ENSP00000357132:F48L	F	-	1	0	OR10X1	156816172	0.000000	0.05858	0.406000	0.26421	0.998000	0.95712	-0.184000	0.09698	-0.154000	0.11118	0.528000	0.53228	TTT	OR10X1	-	prints_GPCR_Rhodpsn	ENSG00000186400		0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0.00	29	0	A	NM_001004477		158549548	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	missense	42.22	26	19	SNP	0.000	G
OR2F1	26211	genome.wustl.edu	37	7	143657084	143657084	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:143657084T>C	ENST00000392899.1	+	1	58	c.21T>C	c.(19-21)acT>acC	p.T7T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	7					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T7T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATAACCAGACTTGGGTGAGTG	0.423																																																	1	Substitution - coding silent(1)	large_intestine(1)											130.0	131.0	131.0					7																	143657084		2203	4300	6503	SO:0001819	synonymous_variant	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.21T>C	7.37:g.143657084T>C			A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T7	ENST00000392899.1	37	c.21	CCDS5887.1	7																																																																																			OR2F1	-	NULL	ENSG00000213215		0.423	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	-	0.00	65	0	T			143657084	+1	tier1	-	no_errors	ENST00000392899	ensembl	human	known	74_37	silent	11.63	38	5	SNP	0.000	C
OR2T33	391195	genome.wustl.edu	37	1	248436926	248436926	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:248436926A>C	ENST00000318021.2	-	1	212	c.191T>G	c.(190-192)cTt>cGt	p.L64R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGAGGGAAAGTTGGCTCAG	0.547																																																	0													88.0	80.0	83.0					1																	248436926		2201	4300	6501	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.191T>G	1.37:g.248436926A>C	ENSP00000324687:p.Leu64Arg		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64R	ENST00000318021.2	37	c.191	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	17.82	3.482305	0.63962	.	.	ENSG00000177212	ENST00000318021	T	0.00520	6.85	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32055	U	0.006659	T	0.03651	0.0104	H	0.99582	4.64	0.44780	D	0.997782	D	0.62365	0.991	D	0.67725	0.953	T	0.01748	-1.1282	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	64	Q8NG76	O2T33_HUMAN	R	64	ENSP00000324687:L64R	ENSP00000324687:L64R	L	-	2	0	OR2T33	246503549	0.619000	0.27059	0.969000	0.41365	0.920000	0.55202	6.784000	0.75084	1.178000	0.42870	0.404000	0.27445	CTT	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177212		0.547	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0.00	101	0	A	NM_001004695		248436926	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	25.45	82	28	SNP	0.928	C
OR4A15	81328	genome.wustl.edu	37	11	55136271	55136271	+	Silent	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55136271T>G	ENST00000314706.3	+	1	912	c.912T>G	c.(910-912)acT>acG	p.T304T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAGTTCTAACTTTTATAACTC	0.383																																																	0													204.0	207.0	206.0					11																	55136271		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.912T>G	11.37:g.55136271T>G			Q6IFL4|Q96R65	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T304	ENST00000314706.3	37	c.912	CCDS31500.1	11																																																																																			OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.383	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1		0.00	66	0	T	NM_001005275		55136271	+1			no_errors	ENST00000314706	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	G
OR51F1	256892	genome.wustl.edu	37	11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:4790663A>C	ENST00000380383.1	-	1	505	c.506T>G	c.(505-507)cTt>cGt	p.L169R	OR51F1_ENST00000343430.3_Missense_Mutation_p.L162R|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162R(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											119.0	118.0	119.0					11																	4790663		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.506T>G	11.37:g.4790663A>C	ENSP00000369744:p.Leu169Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L169R	ENST00000380383.1	37	c.506		11	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922562	0.18056	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00169	8.63;8.63	5.03	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.270315	0.26654	N	0.023197	T	0.00608	0.0020	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27434	-1.0074	10	0.62326	D	0.03	.	10.171	0.42911	0.8506:0.0:0.0:0.1494	.	169	A6NGY5	O51F1_HUMAN	R	162;169	ENSP00000345163:L162R;ENSP00000369744:L169R	ENSP00000345163:L162R	L	-	2	0	OR51F1	4747239	0.001000	0.12720	0.044000	0.18714	0.003000	0.03518	0.788000	0.26872	0.916000	0.36871	0.533000	0.62120	CTT	OR51F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.398	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		-	0.00	31	0	A	NM_001004752		4790663	-1	tier1	-	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.102	C
OR4C16	219428	genome.wustl.edu	37	11	55340225	55340225	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55340225A>G	ENST00000314634.3	+	1	622	c.622A>G	c.(622-624)Agt>Ggt	p.S208G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTGTGCAGTGAGTTATGTCAT	0.433																																																	0													115.0	101.0	106.0					11																	55340225		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.622A>G	11.37:g.55340225A>G	ENSP00000324913:p.Ser208Gly		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S208G	ENST00000314634.3	37	c.622	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	A	6.054	0.378255	0.11466	.	.	ENSG00000181935	ENST00000314634	T	0.38240	1.15	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91561	3.22	0.09310	N	1	B	0.18741	0.03	B	0.30495	0.116	T	0.50013	-0.8877	10	0.45353	T	0.12	.	8.8665	0.35289	0.8109:0.1891:0.0:0.0	.	208	Q8NGL9	OR4CG_HUMAN	G	208	ENSP00000324913:S208G	ENSP00000324913:S208G	S	+	1	0	OR4C16	55096801	0.000000	0.05858	0.430000	0.26722	0.213000	0.24496	-0.936000	0.03946	2.097000	0.63578	0.448000	0.29417	AGT	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0.00	91	0	A	NM_001004701		55340225	+1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	35.71	45	25	SNP	0.068	G
OR8H2	390151	genome.wustl.edu	37	11	55873364	55873364	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55873364T>G	ENST00000313503.1	+	1	846	c.846T>G	c.(844-846)atT>atG	p.I282M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCGTGCTGA	0.353										HNSCC(53;0.14)																																							0													78.0	87.0	84.0					11																	55873364		2201	4295	6496	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.846T>G	11.37:g.55873364T>G	ENSP00000323982:p.Ile282Met		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I282M	ENST00000313503.1	37	c.846	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	t	9.190	1.025784	0.19512	.	.	ENSG00000181767	ENST00000313503	T	0.37752	1.18	3.58	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.117143	0.39083	N	0.001463	T	0.42108	0.1188	M	0.75085	2.285	0.19300	N	0.99997	P	0.49559	0.925	P	0.52672	0.706	T	0.31503	-0.9941	10	0.87932	D	0	.	4.488	0.11799	0.2192:0.4367:0.0:0.3442	.	282	Q8N162	OR8H2_HUMAN	M	282	ENSP00000323982:I282M	ENSP00000323982:I282M	I	+	3	3	OR8H2	55629940	0.000000	0.05858	0.956000	0.39512	0.061000	0.15899	-3.078000	0.00615	-0.016000	0.14127	-0.503000	0.04515	ATT	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181767		0.353	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	-	0.00	75	0	T	NM_001005200		55873364	+1	tier1	-	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	38.60	35	22	SNP	0.163	G
OR8D2	283160	genome.wustl.edu	37	11	124189303	124189303	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:124189303G>T	ENST00000357438.2	-	1	881	c.791C>A	c.(790-792)tCc>tAc	p.S264Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGTAGTGCTGGAAGGGGGCTT	0.448																																																	0													136.0	143.0	140.0					11																	124189303		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.791C>A	11.37:g.124189303G>T	ENSP00000350022:p.Ser264Tyr		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264Y	ENST00000357438.2	37	c.791	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544931	0.45280	.	.	ENSG00000197263	ENST00000357438	T	0.00274	8.35	3.34	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00724	0.0024	M	0.89904	3.07	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.17048	-1.0382	10	0.87932	D	0	.	12.3613	0.55205	0.0:0.0:0.8288:0.1711	.	264	Q9GZM6	OR8D2_HUMAN	Y	264	ENSP00000350022:S264Y	ENSP00000350022:S264Y	S	-	2	0	OR8D2	123694513	0.001000	0.12720	0.006000	0.13384	0.940000	0.58332	0.973000	0.29422	0.980000	0.38523	0.530000	0.56133	TCC	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197263		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1		0.00	32	0	G	NM_001002918		124189303	-1			no_errors	ENST00000357438	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.009	T
PARP4	143	genome.wustl.edu	37	13	24995335	24995335	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:24995335G>A	ENST00000381989.3	-	34	5202	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1699	Interaction with the major vault protein.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACTGCTTGGTGGCAGAGTCCC	0.478																																																	0													3.0	3.0	3.0					13																	24995335		1712	3630	5342	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.5097C>T	13.37:g.24995335G>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A1699	ENST00000381989.3	37	c.5097	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0.00	25	0	G	NM_006437		24995335	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.975	A
PASD1	139135	genome.wustl.edu	37	X	150780178	150780178	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:150780178A>G	ENST00000370357.4	+	4	405	c.160A>G	c.(160-162)Atc>Gtc	p.I54V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	54	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGAGTGATCATTTGTGT	0.333																																																	0													279.0	232.0	248.0					X																	150780178		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.160A>G	X.37:g.150780178A>G	ENSP00000359382:p.Ile54Val		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.I54V	ENST00000370357.4	37	c.160	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	5.131	0.209691	0.09757	.	.	ENSG00000166049	ENST00000370357	T	0.69561	-0.41	5.53	1.7	0.24286	PAS (2);	.	.	.	.	T	0.57257	0.2041	L	0.48218	1.51	0.09310	N	1	B	0.31485	0.325	B	0.35655	0.207	T	0.52457	-0.8573	9	0.62326	D	0.03	-18.3905	4.2	0.10462	0.6397:0.1716:0.1886:0.0	.	54	Q8IV76	PASD1_HUMAN	V	54	ENSP00000359382:I54V	ENSP00000359382:I54V	I	+	1	0	PASD1	150530834	0.978000	0.34361	0.002000	0.10522	0.040000	0.13550	2.668000	0.46816	-0.050000	0.13356	0.437000	0.28790	ATC	PASD1	-	superfamily_PAS,smart_PAS,pfscan_PAS	ENSG00000166049		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0.00	33	0	A	NM_173493		150780178	+1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.005	G
PASD1	139135	genome.wustl.edu	37	X	150842603	150842603	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:150842603A>C	ENST00000370357.4	+	15	2365	c.2120A>C	c.(2119-2121)aAc>aCc	p.N707T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	707						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCAAGTGAACACTTGGTCT	0.547																																																	0													116.0	109.0	111.0					X																	150842603		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2120A>C	X.37:g.150842603A>C	ENSP00000359382:p.Asn707Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.N707T	ENST00000370357.4	37	c.2120	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183597	0.38609	.	.	ENSG00000166049	ENST00000370357	T	0.35973	1.28	3.3	0.831	0.18860	.	.	.	.	.	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	P	0.37101	0.582	B	0.35655	0.207	T	0.16482	-1.0401	9	0.87932	D	0	-5.1288	3.0268	0.06094	0.6051:0.2529:0.142:0.0	.	707	Q8IV76	PASD1_HUMAN	T	707	ENSP00000359382:N707T	ENSP00000359382:N707T	N	+	2	0	PASD1	150593259	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.263000	0.18478	0.066000	0.16515	-0.452000	0.05504	AAC	PASD1	-	NULL	ENSG00000166049		0.547	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0.00	30	0	A	NM_173493		150842603	+1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	96.43	1	27	SNP	0.000	C
PCDH15	65217	genome.wustl.edu	37	10	55582963	55582963	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:55582963T>C	ENST00000320301.6	-	33	4917	c.4523A>G	c.(4522-4524)aAg>aGg	p.K1508R	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1510R|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1439R|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1485R|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1468R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1505R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1508					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTGCAGACTTCAGTTTGTT	0.383										HNSCC(58;0.16)																																							0													95.0	95.0	95.0					10																	55582963		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4523A>G	10.37:g.55582963T>C	ENSP00000322604:p.Lys1508Arg		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1508R	ENST00000320301.6	37	c.4523	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	8.981	0.975287	0.18736	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.66638	0.07;0.06;0.11;0.05;0.05;-0.22	5.91	0.84	0.18912	.	.	.	.	.	T	0.56645	0.1999	L	0.55990	1.75	0.23043	N	0.99838	B;B;B;B;B;B;B;B	0.19706	0.005;0.021;0.021;0.021;0.038;0.005;0.005;0.021	B;B;B;B;B;B;B;B	0.13407	0.009;0.009;0.009;0.009;0.009;0.009;0.009;0.009	T	0.44345	-0.9334	9	0.35671	T	0.21	.	6.9031	0.24293	0.0:0.1262:0.2181:0.6557	.	1485;1508;1510;1515;1439;1468;1505;1508	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	R	1468;1510;1485;1508;1505;1515;1439	ENSP00000378820:K1468R;ENSP00000354950:K1510R;ENSP00000378821:K1485R;ENSP00000322604:K1508R;ENSP00000378818:K1505R;ENSP00000412628:K1439R	ENSP00000322604:K1508R	K	-	2	0	PCDH15	55252969	1.000000	0.71417	0.000000	0.03702	0.064000	0.16182	1.353000	0.34045	-0.096000	0.12329	-0.297000	0.09499	AAG	PCDH15	-	NULL	ENSG00000150275		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	47	0	T	NM_033056		55582963	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.621	C
PCDH15	65217	genome.wustl.edu	37	10	55755405	55755405	+	Intron	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:55755405T>C	ENST00000320301.6	-	21	3263				PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.S958G|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTCTACTTACAGGAGGG	0.388										HNSCC(58;0.16)																																							0													134.0	127.0	130.0					10																	55755405		2203	4300	6503	SO:0001627	intron_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2868+3A>G	10.37:g.55755405T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S958G	ENST00000320301.6	37	c.2872	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720087	0.48728	.	.	ENSG00000150275	ENST00000373955	T	0.55234	0.53	5.93	5.93	0.95920	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40664	-0.9551	8	0.59425	D	0.04	.	16.0336	0.80603	0.0:0.0:0.0:1.0	.	958	Q96QU1-3	.	G	958	ENSP00000363066:S958G	ENSP00000363066:S958G	S	-	1	0	PCDH15	55425411	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.467000	0.66737	2.257000	0.74773	0.533000	0.62120	AGT	PCDH15	-	NULL	ENSG00000150275		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	46	0	T	NM_033056		55755405	-1	tier1	-	no_errors	ENST00000373955	ensembl	human	novel	74_37	missense	40.00	18	12	SNP	1.000	C
PCDH15	65217	genome.wustl.edu	37	10	55973754	55973754	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:55973754A>G	ENST00000320301.6	-	10	1434	c.1040T>C	c.(1039-1041)cTt>cCt	p.L347P	PCDH15_ENST00000395440.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395438.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395442.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395445.1_Missense_Mutation_p.L347P|PCDH15_ENST00000414778.1_Missense_Mutation_p.L352P|PCDH15_ENST00000373965.2_Missense_Mutation_p.L347P|PCDH15_ENST00000361849.3_Missense_Mutation_p.L347P|PCDH15_ENST00000437009.1_Missense_Mutation_p.L347P|PCDH15_ENST00000373955.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395433.1_Missense_Mutation_p.L325P|PCDH15_ENST00000395432.2_Missense_Mutation_p.L310P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395446.1_Missense_Mutation_p.L347P|PCDH15_ENST00000373957.3_Missense_Mutation_p.L325P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L352R(2)|p.L347R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGAGACTAAGTTCTGCTGT	0.363										HNSCC(58;0.16)																																							3	Substitution - Missense(3)	large_intestine(3)											88.0	89.0	89.0					10																	55973754		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1040T>C	10.37:g.55973754A>G	ENSP00000322604:p.Leu347Pro		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L347P	ENST00000320301.6	37	c.1040	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827124	0.71143	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;1.7;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74199	0.3685	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.984;0.984;0.99;0.99;0.99;0.999;0.987;0.984;0.979;0.982;0.993;0.994;0.982;0.984	T	0.79165	-0.1916	9	0.87932	D	0	.	14.6174	0.68558	1.0:0.0:0.0:0.0	.	325;347;347;352;347;310;347;347;347;347;347;352;347;325;347	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	347;352;347;347;347;347;347;347;310;347;325;325;347;347;352;347;347	ENSP00000363076:L347P;ENSP00000410304:L352P;ENSP00000378826:L347P;ENSP00000378832:L347P;ENSP00000378833:L347P;ENSP00000378829:L347P;ENSP00000378827:L347P;ENSP00000378820:L310P;ENSP00000354950:L347P;ENSP00000378821:L325P;ENSP00000363068:L325P;ENSP00000322604:L347P;ENSP00000378818:L347P;ENSP00000412628:L347P;ENSP00000363066:L347P	ENSP00000322604:L347P	L	-	2	0	PCDH15	55643760	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.592000	0.74095	1.998000	0.58463	0.455000	0.32223	CTT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	38	0	A	NM_033056		55973754	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G
PCDHA10	56139	genome.wustl.edu	37	5	140236574	140236574	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:140236574C>G	ENST00000307360.5	+	1	941	c.941C>G	c.(940-942)aCt>aGt	p.T314S	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T314S|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTAACACTTATGAAATT	0.398																																																	0													111.0	106.0	107.0					5																	140236574		2196	4271	6467	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.941C>G	5.37:g.140236574C>G	ENSP00000304234:p.Thr314Ser		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T314S	ENST00000307360.5	37	c.941	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757554	0.03019	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.49432	4.7;0.78	4.29	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14399	0.0348	N	0.02129	-0.67	0.09310	N	1	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.006;0.008	T	0.25641	-1.0126	9	0.08599	T	0.76	.	2.0732	0.03618	0.155:0.4107:0.1105:0.3237	.	314;314;314	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	314	ENSP00000421030:T314S;ENSP00000304234:T314S	ENSP00000304234:T314S	T	+	2	0	PCDHA10	140216758	0.000000	0.05858	0.466000	0.27168	0.990000	0.78478	-4.000000	0.00316	-0.183000	0.10585	0.561000	0.74099	ACT	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.398	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0.00	40	0	C	NM_018901		140236574	+1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.000	G
PCGF3	10336	genome.wustl.edu	37	4	737326	737326	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:737326G>A	ENST00000362003.5	+	7	722	c.327G>A	c.(325-327)aaG>aaA	p.K109K	PCGF3_ENST00000521023.2_Silent_p.K75K|PCGF3_ENST00000505655.2_Silent_p.K109K|PCGF3_ENST00000470161.2_Silent_p.K109K	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GAGACATCAAGGGGGAGACCT	0.542																																																	0													77.0	84.0	82.0					4																	737326		1964	4165	6129	SO:0001819	synonymous_variant	0			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.327G>A	4.37:g.737326G>A			D3DVN1|O15262	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K109	ENST00000362003.5	37	c.327	CCDS3339.2	4																																																																																			PCGF3	-	NULL	ENSG00000185619		0.542	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	-	0.00	39	0	G	NM_006315		737326	+1	tier1	-	no_errors	ENST00000362003	ensembl	human	known	74_37	silent	85.00	6	34	SNP	1.000	A
PCLO	27445	genome.wustl.edu	37	7	82586186	82586186	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:82586186G>T	ENST00000333891.9	-	5	4420	c.4083C>A	c.(4081-4083)agC>agA	p.S1361R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1361R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCCCGTGTCGCTCAGACCTT	0.423																																																	0													53.0	51.0	52.0					7																	82586186		1860	4090	5950	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4083C>A	7.37:g.82586186G>T	ENSP00000334319:p.Ser1361Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1361R	ENST00000333891.9	37	c.4083	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393999	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.32023	1.47;1.49	5.67	0.236	0.15471	.	.	.	.	.	T	0.50000	0.1590	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.47824	-0.9087	9	0.87932	D	0	.	9.3935	0.38388	0.7414:0.0:0.2586:0.0	.	1361;1361	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1292;1361;1361	ENSP00000334319:S1361R;ENSP00000388393:S1361R	ENSP00000334319:S1361R	S	-	3	2	PCLO	82424122	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	2.696000	0.47052	-0.131000	0.11578	-1.105000	0.02106	AGC	PCLO	-	NULL	ENSG00000186472		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0.00	55	0	G	NM_014510		82586186	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
PCNXL2	80003	genome.wustl.edu	37	1	233397060	233397060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:233397060G>T	ENST00000258229.9	-	4	722	c.488C>A	c.(487-489)tCa>tAa	p.S163*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	163						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTGTGCTGACAACTCCTA	0.353																																																	0													113.0	112.0	112.0					1																	233397060		1871	4099	5970	SO:0001587	stop_gained	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.488C>A	1.37:g.233397060G>T	ENSP00000258229:p.Ser163*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S163*	ENST00000258229.9	37	c.488	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.623009	0.98396	.	.	ENSG00000135749	ENST00000258229	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.2182	0.82241	0.0:0.0:1.0:0.0	.	.	.	.	X	163	.	ENSP00000258229:S163X	S	-	2	0	PCNXL2	231463683	1.000000	0.71417	0.811000	0.32455	0.987000	0.75469	6.019000	0.70818	2.644000	0.89710	0.655000	0.94253	TCA	PCNXL2	-	NULL	ENSG00000135749		0.353	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0.00	69	0	G	NM_014801		233397060	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	nonsense	20.00	48	12	SNP	0.990	T
PCP2	126006	genome.wustl.edu	37	19	7697660	7697660	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:7697660G>T	ENST00000311069.5	-	2	398	c.108C>A	c.(106-108)gaC>gaA	p.D36E	CTD-3214H19.4_ENST00000595866.1_Intron|CTD-3214H19.6_ENST00000601797.1_RNA|PCP2_ENST00000598935.1_Missense_Mutation_p.D20E	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	36	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						CCTCCATCCGGTCGCCCTGCA	0.672																																																	0													36.0	29.0	31.0					19																	7697660		2197	4294	6491	SO:0001583	missense	0			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.108C>A	19.37:g.7697660G>T	ENSP00000310585:p.Asp36Glu		M0R2R7|Q3KRG7	Missense_Mutation	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.D36E	ENST00000311069.5	37	c.108	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142518	0.37825	.	.	ENSG00000174788	ENST00000311069	.	.	.	5.03	1.32	0.21799	GoLoco motif (3);	0.377447	0.19807	N	0.105636	T	0.20780	0.0500	N	0.25647	0.755	0.27220	N	0.959681	B	0.33494	0.414	B	0.34038	0.174	T	0.12426	-1.0548	9	0.59425	D	0.04	-7.1103	3.247	0.06801	0.3289:0.0:0.4812:0.1899	.	36	Q8IVA1	PCP2_HUMAN	E	36	.	ENSP00000310585:D36E	D	-	3	2	PCP2	7603660	0.456000	0.25744	0.786000	0.31890	0.601000	0.36947	0.461000	0.21940	0.538000	0.28769	0.561000	0.74099	GAC	PCP2	-	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	ENSG00000174788		0.672	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	HGNC	protein_coding	OTTHUMT00000461026.2	-	0.00	108	0	G	XM_058956		7697660	-1	tier1	-	no_errors	ENST00000311069	ensembl	human	known	74_37	missense	19.17	97	23	SNP	0.342	T
PDPN	10630	genome.wustl.edu	37	1	13933737	13933737	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:13933737C>T	ENST00000509009.1	+	2	166	c.122C>T	c.(121-123)gCc>gTc	p.A41V	PDPN_ENST00000376057.4_Missense_Mutation_p.A122V|PDPN_ENST00000294489.6_Missense_Mutation_p.A122V|PDPN_ENST00000475043.1_Missense_Mutation_p.A4V|PDPN_ENST00000376061.4_Missense_Mutation_p.A4V|PDPN_ENST00000487038.1_Missense_Mutation_p.A4V|PDPN_ENST00000513143.1_Missense_Mutation_p.A4V					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ATGCCAGGTGCCGAAGATGAT	0.517																																																	0													98.0	91.0	94.0					1																	13933737		2203	4300	6503	SO:0001583	missense	0			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.122C>T	1.37:g.13933737C>T	ENSP00000422977:p.Ala41Val			Missense_Mutation	SNP	pfam_Podoplanin	p.A122V	ENST00000509009.1	37	c.365		1	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365881	0.05069	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.71	-7.97	0.01139	.	2.915610	0.01097	N	0.005291	T	0.13457	0.0326	L	0.28274	0.84	0.09310	N	1	B;B;B;B	0.14012	0.004;0.004;0.009;0.009	B;B;B;B	0.11329	0.004;0.006;0.006;0.006	T	0.37709	-0.9694	10	0.02654	T	1	-33.7306	8.7647	0.34696	0.2433:0.592:0.0:0.1647	.	46;4;122;122	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	122;122;113;41;4;4;4;4	ENSP00000294489:A122V;ENSP00000365225:A122V;ENSP00000426302:A113V;ENSP00000422977:A41V;ENSP00000365229:A4V;ENSP00000425304:A4V;ENSP00000427537:A4V;ENSP00000426063:A4V	ENSP00000294489:A122V	A	+	2	0	PDPN	13806324	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.937000	0.01547	-1.510000	0.01796	-0.345000	0.07892	GCC	PDPN	-	pfam_Podoplanin	ENSG00000162493		0.517	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	PDPN	HGNC	protein_coding	OTTHUMT00000367736.1		0.00	56	0	C	NM_006474		13933737	+1			no_errors	ENST00000294489	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T
PDPR	55066	genome.wustl.edu	37	16	70187460	70187460	+	Missense_Mutation	SNP	G	G	C	rs543584154		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:70187460G>C	ENST00000288050.4	+	18	3176	c.2219G>C	c.(2218-2220)cGg>cCg	p.R740P	PDPR_ENST00000567046.1_Missense_Mutation_p.R98P|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.R740P|PDPR_ENST00000542659.1_Missense_Mutation_p.R85P|PDPR_ENST00000398122.3_Missense_Mutation_p.R640P|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	740					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGAGAGTCTCGGGTGAAATTA	0.468																																																	0													61.0	64.0	63.0					16																	70187460		1917	4142	6059	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2219G>C	16.37:g.70187460G>C	ENSP00000288050:p.Arg740Pro		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.R740P	ENST00000288050.4	37	c.2219	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592511	0.86953	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	D;D;D	0.83335	-1.71;-1.71;-1.71	6.04	6.04	0.98038	.	0.148889	0.64402	D	0.000018	D	0.89347	0.6689	M	0.88105	2.93	0.80722	D	1	D	0.54601	0.967	P	0.54431	0.752	D	0.88480	0.3068	10	0.34782	T	0.22	.	12.7334	0.57210	0.0818:0.0:0.9182:0.0	.	740	Q8NCN5	PDPR_HUMAN	P	740;640;85	ENSP00000288050:R740P;ENSP00000381190:R640P;ENSP00000441690:R85P	ENSP00000288050:R740P	R	+	2	0	PDPR	68744961	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.903000	0.87398	2.873000	0.98535	0.561000	0.74099	CGG	PDPR	-	NULL	ENSG00000090857		0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0.00	107	0	G	NM_017990		70187460	+1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	8.79	83	8	SNP	1.000	C
PGBD4	161779	genome.wustl.edu	37	15	34396391	34396391	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:34396391G>A	ENST00000397766.2	+	1	2118	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	553										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AGGATGGCAAGAAGATCCGGA	0.438																																																	0													132.0	110.0	117.0					15																	34396391		2201	4298	6499	SO:0001819	synonymous_variant	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1659G>A	15.37:g.34396391G>A			A1L487|A8K0C6|Q8N9E8	Silent	SNP	NULL	p.K553	ENST00000397766.2	37	c.1659	CCDS10033.1	15																																																																																			PGBD4	-	NULL	ENSG00000182405		0.438	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1	-	0.00	37	0	G			34396391	+1	tier1	-	no_errors	ENST00000397766	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.000	A
PHLDB2	90102	genome.wustl.edu	37	3	111603396	111603396	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:111603396C>A	ENST00000431670.2	+	2	883	c.472C>A	c.(472-474)Cat>Aat	p.H158N	PHLDB2_ENST00000393925.3_Missense_Mutation_p.H158N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H185N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H158N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	158						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATAAATCGCATGACAATGT	0.527																																																	0													75.0	79.0	78.0					3																	111603396		2203	4300	6503	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.472C>A	3.37:g.111603396C>A	ENSP00000405405:p.His158Asn		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H158N	ENST00000431670.2	37	c.472	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715474	0.48622	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31247	1.5;1.53;1.51;1.51;1.53;1.51	5.61	5.61	0.85477	.	0.263038	0.39274	N	0.001402	T	0.40067	0.1102	L	0.40543	1.245	0.37492	D	0.916426	P;P;D;P;B	0.58620	0.627;0.898;0.983;0.744;0.053	B;B;P;B;B	0.54590	0.142;0.359;0.756;0.271;0.013	T	0.12656	-1.0539	10	0.33141	T	0.24	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	158;158;158;158;185	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	185;185;158;158;158;158;158;158;158	ENSP00000377500:H185N;ENSP00000405405:H158N;ENSP00000405292:H158N;ENSP00000418296:H158N;ENSP00000377502:H158N;ENSP00000418319:H158N	ENSP00000352764:H185N	H	+	1	0	PHLDB2	113086086	0.964000	0.33143	0.995000	0.50966	0.641000	0.38312	2.657000	0.46724	2.813000	0.96785	0.655000	0.94253	CAT	PHLDB2	-	NULL	ENSG00000144824		0.527	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	-	0.00	46	0	C	NM_145753		111603396	+1	tier1	-	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.999	A
PLCB1	23236	genome.wustl.edu	37	20	8782721	8782724	+	Intron	DEL	TTCT	TTCT	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:8782721_8782724delTTCT	ENST00000338037.6	+	31	3450				PLCB1_ENST00000378637.2_Frame_Shift_Del_p.FL1148fs|PLCB1_ENST00000378641.3_Frame_Shift_Del_p.FL1148fs	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCTCCTCATTCTTGTCGGAAAC	0.485																																																	0																																										SO:0001627	intron_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3423+11813TTCT>-	20.37:g.8782721_8782724delTTCT			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Frame_Shift_Del	DEL	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F1148fs	ENST00000338037.6	37	c.3442_3445	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.485	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3		0.00	78	0	TTCT			8782724	+1	tier1		no_errors	ENST00000378637	ensembl	human	known	74_37	frame_shift_del	10.90	188	23	DEL	1.000:1.000:1.000:1.000	-
PLCE1	51196	genome.wustl.edu	37	10	96030305	96030305	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:96030305G>T	ENST00000371380.3	+	17	4687	c.4452G>T	c.(4450-4452)tcG>tcT	p.S1484S	PLCE1_ENST00000371375.1_Silent_p.S1176S|PLCE1_ENST00000260766.3_Silent_p.S1484S|PLCE1_ENST00000371385.3_Silent_p.S1176S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCATCATATCGATTGAGAACC	0.438																																																	0													132.0	126.0	128.0					10																	96030305		1986	4160	6146	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4452G>T	10.37:g.96030305G>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S1484	ENST00000371380.3	37	c.4452	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000138193		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0.00	58	0	G	NM_016341		96030305	+1			no_errors	ENST00000260766	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.045	T
PNLIPRP3	119548	genome.wustl.edu	37	10	118236172	118236172	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118236172T>G	ENST00000369230.3	+	11	1327	c.1181T>G	c.(1180-1182)cTt>cGt	p.L394R		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	394	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.L394R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGTGGAAAACTTGAGCCAGGC	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											105.0	103.0	104.0					10																	118236172		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1181T>G	10.37:g.118236172T>G	ENSP00000358232:p.Leu394Arg			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.L394R	ENST00000369230.3	37	c.1181	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943168	0.34283	.	.	ENSG00000203837	ENST00000369230	T	0.79554	-1.28	4.13	4.13	0.48395	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.332224	0.21185	N	0.078747	D	0.88698	0.6507	M	0.80616	2.505	0.29351	N	0.865356	D	0.89917	1.0	D	0.78314	0.991	D	0.84160	0.0428	10	0.87932	D	0	.	11.3315	0.49479	0.0:0.0:0.0:1.0	.	394	Q17RR3	LIPR3_HUMAN	R	394	ENSP00000358232:L394R	ENSP00000358232:L394R	L	+	2	0	PNLIPRP3	118226162	0.173000	0.23056	0.633000	0.29310	0.140000	0.21249	3.790000	0.55461	1.819000	0.53055	0.533000	0.62120	CTT	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0.00	52	0	T	XM_058404		118236172	+1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.917	G
POSTN	10631	genome.wustl.edu	37	13	38154722	38154722	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:38154722T>G	ENST00000379747.4	-	11	1622	c.1505A>C	c.(1504-1506)aAg>aCg	p.K502T	POSTN_ENST00000379749.4_Missense_Mutation_p.K502T|POSTN_ENST00000379742.4_Missense_Mutation_p.K502T|POSTN_ENST00000541481.1_Missense_Mutation_p.K502T|POSTN_ENST00000379743.4_Missense_Mutation_p.K502T|POSTN_ENST00000541179.1_Missense_Mutation_p.K502T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	502	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGTTTTAACTTTTCATGGAG	0.428																																																	0													293.0	280.0	284.0					13																	38154722		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1505A>C	13.37:g.38154722T>G	ENSP00000369071:p.Lys502Thr		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.K502T	ENST00000379747.4	37	c.1505	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501870	0.26949	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.02	3.81	0.43845	FAS1 domain (3);	0.266840	0.42053	D	0.000765	T	0.65450	0.2692	N	0.00521	-1.4	0.25901	N	0.983358	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.001;0.002;0.001;0.001;0.001	T	0.58763	-0.7579	10	0.13470	T	0.59	-17.4226	4.7656	0.13130	0.2652:0.0:0.2876:0.4472	.	502;502;502;502;502;502;502	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	502	ENSP00000437959:K502T;ENSP00000369073:K502T;ENSP00000369071:K502T;ENSP00000369067:K502T;ENSP00000369066:K502T;ENSP00000437953:K502T	ENSP00000369066:K502T	K	-	2	0	POSTN	37052722	0.996000	0.38824	0.845000	0.33349	0.974000	0.67602	3.337000	0.52120	2.000000	0.58554	0.455000	0.32223	AAG	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.428	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	99	0	T	NM_006475		38154722	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	42.20	63	46	SNP	0.767	G
BMP8A	353500	genome.wustl.edu	37	1	39991161	39991161	+	Intron	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:39991161G>C	ENST00000331593.5	+	7	1405				RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCTCAGGGCTGCTCTTA	0.612																																																	0																																										SO:0001627	intron_variant	0			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1060-160G>C	1.37:g.39991161G>C			Q5T3A5	RNA	SNP	-	NULL	ENST00000331593.5	37	NULL	CCDS437.1	1																																																																																			RP11-69E11.4	-	-	ENSG00000182109		0.612	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIEL	Clone_based_vega_gene	protein_coding	OTTHUMT00000023079.1	-	0.00	27	0	G	NM_181809		39991161	-1	tier1	-	no_errors	ENST00000331856	ensembl	human	known	74_37	rna	25.00	36	12	SNP	0.001	C
PPP2R5E	5529	genome.wustl.edu	37	14	63861976	63861976	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:63861976A>T	ENST00000337537.3	-	7	1310	c.708T>A	c.(706-708)aaT>aaA	p.N236K	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.N236K|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.N160K|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	236					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CAGCTACACCATTGAAGTGTT	0.408																																																	0													87.0	89.0	88.0					14																	63861976		2201	4300	6501	SO:0001583	missense	0			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.708T>A	14.37:g.63861976A>T	ENSP00000337641:p.Asn236Lys		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.N236K	ENST00000337537.3	37	c.708	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722304	0.89298	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.72982	0.979;0.917	D	0.91407	0.5148	9	0.87932	D	0	-11.1504	15.8237	0.78678	1.0:0.0:0.0:0.0	.	236;236	B7ZKK9;Q16537	.;2A5E_HUMAN	K	236;236;160	.	ENSP00000337641:N236K	N	-	3	2	PPP2R5E	62931729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	2.193000	0.70182	0.519000	0.50382	AAT	PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000154001		0.408	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	-	0.00	76	0	A	NM_006246		63861976	-1	tier1	-	no_errors	ENST00000337537	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
PRDM13	59336	genome.wustl.edu	37	6	100056626	100056626	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:100056626G>T	ENST00000369215.4	+	2	459	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	52	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGTGCGCATGGTGAGAGGGGA	0.592																																																	0													35.0	41.0	39.0					6																	100056626		2000	4162	6162	SO:0001583	missense	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.154G>T	6.37:g.100056626G>T	ENSP00000358217:p.Val52Leu		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.V52L	ENST00000369215.4	37	c.154	CCDS43487.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.107892	0.94292	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06933	3.27;3.24	5.1	5.1	0.69264	SET domain (2);	0.000000	0.31071	U	0.008308	T	0.14527	0.0351	L	0.37630	1.12	0.50171	D	0.999854	D	0.76494	0.999	D	0.76071	0.987	T	0.02933	-1.1092	10	0.87932	D	0	-28.0774	18.1797	0.89773	0.0:0.0:1.0:0.0	.	52	Q9H4Q3	PRD13_HUMAN	L	52;62	ENSP00000358217:V52L;ENSP00000358216:V62L	ENSP00000358216:V62L	V	+	1	0	PRDM13	100163347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.269000	0.58890	2.393000	0.81446	0.558000	0.71614	GTG	PRDM13	-	pfscan_SET_dom	ENSG00000112238		0.592	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	-	0.00	88	0	G			100056626	+1	tier1	-	no_errors	ENST00000369215	ensembl	human	known	74_37	missense	7.21	103	8	SNP	1.000	T
PREX2	80243	genome.wustl.edu	37	8	68934343	68934343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:68934343delA	ENST00000288368.4	+	4	686	c.409delA	c.(409-411)aacfs	p.N137fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	137	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTTGAACTCAACAAAATAAG	0.318																																																	0													124.0	118.0	120.0					8																	68934343		2202	4300	6502	SO:0001589	frameshift_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.409delA	8.37:g.68934343delA	ENSP00000288368:p.Asn137fs		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.N137fs	ENST00000288368.4	37	c.409	CCDS6201.1	8																																																																																			PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1		0.00	42	0	A	NM_025170		68934343	+1	tier1		no_errors	ENST00000288368	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	1.000	-
PREX2	80243	genome.wustl.edu	37	8	68934346	68934346	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:68934346A>C	ENST00000288368.4	+	4	689	c.412A>C	c.(412-414)Aaa>Caa	p.K138Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	138	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACTCAACAAAATAAGAAC	0.323																																																	0													123.0	117.0	119.0					8																	68934346		2202	4300	6502	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.412A>C	8.37:g.68934346A>C	ENSP00000288368:p.Lys138Gln		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K138Q	ENST00000288368.4	37	c.412	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738470	0.89573	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.70282	-0.47	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.91635	0.999;0.981;0.991	D	0.83714	0.0189	10	0.62326	D	0.03	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	138;138;138	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	138	ENSP00000288368:K138Q	ENSP00000288368:K138Q	K	+	1	0	PREX2	69096900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.939000	0.92951	2.317000	0.78254	0.460000	0.39030	AAA	PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	41	0	A	NM_025170		68934346	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	C
PRICKLE1	144165	genome.wustl.edu	37	12	42858541	42858541	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:42858541G>T	ENST00000455697.1	-	7	1580	c.1295C>A	c.(1294-1296)cCc>cAc	p.P432H	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P432H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P432H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P432H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P432H|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	432					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCTCATTGGGCTGTGGCTG	0.433																																																	0													63.0	66.0	65.0					12																	42858541		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1295C>A	12.37:g.42858541G>T	ENSP00000401060:p.Pro432His		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P432H	ENST00000455697.1	37	c.1295	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560872	0.45590	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.61	3.77	0.43336	.	0.320136	0.30999	N	0.008460	T	0.47021	0.1423	N	0.19112	0.55	0.34943	D	0.750516	B	0.26876	0.162	B	0.36186	0.219	T	0.58393	-0.7644	10	0.72032	D	0.01	-12.606	11.8119	0.52188	0.0671:0.1233:0.8096:0.0	.	432	Q96MT3	PRIC1_HUMAN	H	432	ENSP00000401060:P432H;ENSP00000398947:P432H;ENSP00000448359:P432H;ENSP00000345064:P432H;ENSP00000449819:P432H	ENSP00000345064:P432H	P	-	2	0	PRICKLE1	41144808	1.000000	0.71417	0.719000	0.30619	0.968000	0.65278	4.689000	0.61723	0.816000	0.34421	0.650000	0.86243	CCC	PRICKLE1	-	NULL	ENSG00000139174		0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1		0.00	31	0	G			42858541	-1			no_errors	ENST00000345127	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	T
PRIM2	5558	genome.wustl.edu	37	6	57244771	57244771	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:57244771T>C	ENST00000607273.1	+	6	619	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	178					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGGACTTAAGTTGGGGTTCGA	0.318																																																	0													50.0	53.0	52.0					6																	57244771		1910	4117	6027	SO:0001819	synonymous_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.532T>C	6.37:g.57244771T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	pfam_DNA_primase_lsu_euk/arc	p.L178	ENST00000607273.1	37	c.532		6																																																																																			PRIM2	-	NULL	ENSG00000146143		0.318	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0.00	131	0	T	NM_000947		57244771	+1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	silent	11.21	103	13	SNP	0.000	C
PRIMA1	145270	genome.wustl.edu	37	14	94192344	94192344	+	Intron	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:94192344G>A	ENST00000393140.1	-	5	462				PRIMA1_ENST00000393143.1_Intron|PRIMA1_ENST00000316227.3_Missense_Mutation_p.A123V	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1						establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TCCCTAGATGGCATGGTTCCT	0.552																																																	0																																										SO:0001627	intron_variant	0				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.360-4452C>T	14.37:g.94192344G>A			Q86XR6	Missense_Mutation	SNP	NULL	p.A123V	ENST00000393140.1	37	c.368	CCDS9912.1	14	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246987	0.39697	.	.	ENSG00000175785	ENST00000316227	.	.	.	3.35	2.44	0.29823	.	.	.	.	.	T	0.36690	0.0976	.	.	.	0.22354	N	0.999176	.	.	.	.	.	.	T	0.23904	-1.0175	5	0.48119	T	0.1	.	5.8379	0.18617	0.145:0.0:0.855:0.0	.	.	.	.	V	123	.	ENSP00000320948:A123V	A	-	2	0	PRIMA1	93262097	0.670000	0.27512	0.928000	0.36995	0.742000	0.42306	1.182000	0.32029	1.891000	0.54761	0.289000	0.19496	GCC	PRIMA1	-	NULL	ENSG00000175785		0.552	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1	-	0.00	31	0	G	NM_178013		94192344	-1	tier1	-	no_errors	ENST00000316227	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.973	A
PRKAA1	5562	genome.wustl.edu	37	5	40767767	40767767	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:40767767T>C	ENST00000397128.2	-	6	630	c.622A>G	c.(622-624)Ata>Gta	p.I208V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.I223V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			I -> L (in Ref. 6; AAA64850). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTGCTCCATATATCTACCTCT	0.353																																																	0													88.0	82.0	84.0					5																	40767767		1856	4098	5954	SO:0001583	missense	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.622A>G	5.37:g.40767767T>C	ENSP00000380317:p.Ile208Val		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I223V	ENST00000397128.2	37	c.667	CCDS3932.2	5	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787906	0.31593	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.22539	1.95;1.95	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.11313	0.125	0.80722	D	1	P;P	0.41546	0.649;0.754	B;P	0.44623	0.365;0.455	T	0.03957	-1.0989	10	0.02654	T	1	-20.6861	15.9962	0.80250	0.0:0.0:0.0:1.0	.	208;223	Q13131;Q13131-2	AAPK1_HUMAN;.	V	208;223	ENSP00000380317:I208V;ENSP00000346148:I223V	ENSP00000346148:I223V	I	-	1	0	AC008810.1	40803524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.180000	0.69256	0.459000	0.35465	ATA	PRKAA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132356		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0.00	40	0	T	NM_006251		40767767	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	C
CERS3	204219	genome.wustl.edu	37	15	101088125	101088126	+	5'Flank	INS	-	-	T	rs532048470|rs574236631|rs111634080	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:101088125_101088126insT	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACATGCTACAGTTTTTTTTTTC	0.347													|||unknown(HR)	294	0.0587061	0.0204	0.1902	5008	,	,		16134	0.0437		0.0487	False		,,,				2504	0.0429																0																																										SO:0001631	upstream_gene_variant	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088135_101088135dupT	Exception_encountered		Q8NE64|Q8NEN6	RNA	INS	-	NULL	ENST00000560944.1	37	NULL		15																																																																																			RP11-526I2.5	-	-	ENSG00000270127		0.347	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000417720.1		0.00	31	0	-	NM_178842		101088126	-1	tier1		no_errors	ENST00000602585	ensembl	human	known	74_37	rna	10.34	26	3	INS	0.000:0.000	T
PRL	5617	genome.wustl.edu	37	6	22290493	22290493	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:22290493T>C	ENST00000306482.1	-	4	920	c.402A>G	c.(400-402)caA>caG	p.Q134Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	134					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CCGGGGCTTCTTGCATACCAC	0.502																																																	0													111.0	103.0	106.0					6																	22290493		2203	4300	6503	SO:0001819	synonymous_variant	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.402A>G	6.37:g.22290493T>C			Q15199|Q92996	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.Q134	ENST00000306482.1	37	c.402	CCDS4548.1	6																																																																																			PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000172179		0.502	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0.00	17	0	T	NM_000948		22290493	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.017	C
PRMT6	55170	genome.wustl.edu	37	1	107600103	107600103	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:107600103C>T	ENST00000370078.1	+	1	803	c.766C>T	c.(766-768)Cta>Tta	p.L256L	PRMT6_ENST00000361318.5_Silent_p.L197L			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	256	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTTTGCTCAGCTAGAGCTCTC	0.692																																																	0													21.0	26.0	24.0					1																	107600103		1947	4143	6090	SO:0001819	synonymous_variant	0			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.766C>T	1.37:g.107600103C>T			A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.L256	ENST00000370078.1	37	c.766	CCDS41360.2	1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562522	0.27915	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65557	-0.6139	5	0.87932	D	0	-4.7025	10.363	0.44006	0.0:0.9112:0.0:0.0888	.	.	.	.	V	149	.	ENSP00000440829:A149V	A	+	2	0	PRMT6	107401626	1.000000	0.71417	0.902000	0.35471	0.163000	0.22366	2.708000	0.47152	2.584000	0.87258	0.442000	0.29010	GCT	PRMT6	-	pfam_Arg_MeTrfase	ENSG00000198890		0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	-	0.00	35	0	C	NM_018137		107600103	+1	tier1	-	no_errors	ENST00000370078	ensembl	human	known	74_37	silent	32.69	35	17	SNP	1.000	T
PRR12	57479	genome.wustl.edu	37	19	50098808	50098808	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:50098808delC	ENST00000418929.2	+	4	1228	c.1216delC	c.(1216-1218)cccfs	p.P409fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCCACCAGGCCCCCCCCACC	0.687																																																	0										49,3127		7,35,1546	7.0	8.0	8.0			-3.1	0.1	19		8	92,7166		6,80,3543	no	frameshift	PRR12	NM_020719.1		13,115,5089	A1A1,A1R,RR		1.2676,1.5428,1.3514			50098808	141,10293	1723	3929	5652	SO:0001589	frameshift_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1216delC	19.37:g.50098808delC	ENSP00000394510:p.Pro409fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.P408fs	ENST00000418929.2	37	c.1216	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0.00	24	0	C	NM_020719		50098808	+1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	6.90	27	2	DEL	0.210	-
PRUNE2	158471	genome.wustl.edu	37	9	79318388	79318389	+	Frame_Shift_Ins	INS	-	-	T	rs376038487|rs11267615	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:79318388_79318389insT	ENST00000376718.3	-	9	8263_8264	c.8140_8141insA	c.(8140-8142)ttgfs	p.L2714fs	PRUNE2_ENST00000428286.1_Frame_Shift_Ins_p.L2355fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2714				Missing (in Ref. 4; BAD93351, 5; AAR15150/AAR15151 and 6; BAA20822). {ECO:0000305}.	apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAGCCTGCAACGTAACTGCA	0.52																																																	0																																										SO:0001589	frameshift_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8140_8141insA	9.37:g.79318388_79318389insT	ENSP00000365908:p.Leu2714fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Ins	INS	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2355fs	ENST00000376718.3	37	c.7064_7063	CCDS47982.1	9																																																																																			PRUNE2	-	NULL	ENSG00000106772		0.520	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0.00	45	0	-	NM_138818		79318389	-1	tier1		no_errors	ENST00000428286	ensembl	human	known	74_37	frame_shift_ins	15.00	17	3	INS	0.010:0.000	T
PSMA8	143471	genome.wustl.edu	37	18	23724574	23724574	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:23724574G>T	ENST00000308268.6	+	2	243	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	PSMA8_ENST00000415576.2_Missense_Mutation_p.V52F|PSMA8_ENST00000343848.6_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAAAAAATCTGTTGCCAAGCT	0.358																																																	0													135.0	134.0	134.0					18																	23724574		2203	4300	6503	SO:0001583	missense	0			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.154G>T	18.37:g.23724574G>T	ENSP00000311121:p.Val52Phe		B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.V52F	ENST00000308268.6	37	c.154	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.069166	0.93950	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000538664	T;T	0.23147	1.92;1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	H	0.94462	3.54	0.80722	D	1	P;P;P	0.44776	0.656;0.843;0.811	B;P;P	0.51324	0.434;0.666;0.638	T	0.67086	-0.5759	10	0.72032	D	0.01	-21.8408	16.7371	0.85449	0.0:0.0:1.0:0.0	.	26;52;52	F5GY34;Q8TAA3;Q8TAA3-5	.;PSA7L_HUMAN;.	F	52;52;26	ENSP00000311121:V52F;ENSP00000409284:V52F	ENSP00000311121:V52F	V	+	1	0	PSMA8	21978572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.857000	0.92250	2.826000	0.97356	0.655000	0.94253	GTT	PSMA8	-	pfam_Proteasome_sua/b	ENSG00000154611		0.358	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	-	0.00	55	0	G	NM_144662		23724574	+1	tier1	-	no_errors	ENST00000308268	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
PSMB6	5694	genome.wustl.edu	37	17	4700750	4700750	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:4700750G>A	ENST00000270586.3	+	3	239	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ATCGCCAATCGAGTGACTGAC	0.547																																																	0													167.0	144.0	152.0					17																	4700750		2203	4300	6503	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.188G>A	17.37:g.4700750G>A	ENSP00000270586:p.Arg63Gln		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.R63Q	ENST00000270586.3	37	c.188	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521574	0.64747	.	.	ENSG00000142507	ENST00000270586	T	0.22336	1.96	5.65	4.68	0.58851	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.52126	1.63	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.12400	-1.0549	10	0.51188	T	0.08	-2.1169	12.3576	0.55184	0.0802:0.0:0.9198:0.0	.	63	P28072	PSB6_HUMAN	Q	63	ENSP00000270586:R63Q	ENSP00000270586:R63Q	R	+	2	0	PSMB6	4647708	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.802000	0.85969	1.636000	0.50526	-0.136000	0.14681	CGA	PSMB6	-	pfam_Proteasome_sua/b	ENSG00000142507		0.547	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2		0.00	31	0	G	NM_002798		4700750	+1			no_errors	ENST00000270586	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
PTCHD4	442213	genome.wustl.edu	37	6	47846773	47846773	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:47846773T>C	ENST00000339488.4	-	3	1840	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	603						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GAAGCAATGATATTGCTTTCA	0.433																																																	0													86.0	86.0	86.0					6																	47846773		2203	4300	6503	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1807A>G	6.37:g.47846773T>C	ENSP00000341914:p.Ile603Val		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.I603V	ENST00000339488.4	37	c.1807	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986146	0.35036	.	.	ENSG00000244694	ENST00000339488	D	0.85339	-1.97	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	L	0.39245	1.2	0.80722	D	1	P	0.46142	0.873	D	0.63113	0.911	T	0.82172	-0.0589	10	0.19147	T	0.46	.	16.35	0.83199	0.0:0.0:0.0:1.0	.	603	Q6ZW05	CF138_HUMAN	V	603	ENSP00000341914:I603V	ENSP00000341914:I603V	I	-	1	0	C6orf138	47954732	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.971000	0.70440	2.270000	0.75569	0.528000	0.53228	ATC	PTCHD4	-	pfam_Patched	ENSG00000244694		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	-	0.00	40	0	T	NM_001013732		47846773	-1	tier1	-	no_errors	ENST00000339488	ensembl	human	known	74_37	missense	20.69	22	6	SNP	1.000	C
PTPRA	5786	genome.wustl.edu	37	20	3005237	3005237	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:3005237C>T	ENST00000216877.6	+	16	1957	c.1557C>T	c.(1555-1557)acC>acT	p.T519T	PTPRA_ENST00000380393.3_Silent_p.T528T|PTPRA_ENST00000358719.4_Silent_p.T384T|PTPRA_ENST00000425918.2_Silent_p.T539T|PTPRA_ENST00000318266.5_Silent_p.T519T|PTPRA_ENST00000399903.2_Silent_p.T528T|PTPRA_ENST00000356147.3_Silent_p.T519T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	528					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCAGGGACCAGCAACAATG	0.458																																																	0													115.0	118.0	117.0					20																	3005237		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1557C>T	20.37:g.3005237C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T539	ENST00000216877.6	37	c.1617	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type	ENSG00000132670		0.458	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	-	0.00	50	0	C			3005237	+1	tier1	-	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	11.61	136	18	SNP	1.000	T
PTPRE	5791	genome.wustl.edu	37	10	129866416	129866416	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:129866416G>T	ENST00000254667.3	+	12	1152	c.873G>T	c.(871-873)agG>agT	p.R291S	PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Missense_Mutation_p.R233S|PTPRE_ENST00000419012.2_Missense_Mutation_p.R291S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	291	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AAGCCCCCAGGCTGGTCTCAC	0.597																																					Colon(52;977 1184 20575 41685)												0													44.0	45.0	44.0					10																	129866416		2203	4300	6503	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.873G>T	10.37:g.129866416G>T	ENSP00000254667:p.Arg291Ser		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R291S	ENST00000254667.3	37	c.873	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504002	0.44558	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.15017	2.46;2.46;2.46	3.88	2.98	0.34508	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.64402	D	0.000001	T	0.51449	0.1675	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;1.0	T	0.62402	-0.6862	10	0.87932	D	0	.	10.0372	0.42135	0.1689:0.0:0.8311:0.0	.	269;291;233;291	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	S	291;269;291;233	ENSP00000254667:R291S;ENSP00000402337:R291S;ENSP00000303350:R233S	ENSP00000254667:R291S	R	+	3	2	PTPRE	129756406	1.000000	0.71417	0.599000	0.28851	0.386000	0.30323	1.449000	0.35123	0.952000	0.37798	-0.343000	0.07986	AGG	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.597	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	-	0.00	53	0	G			129866416	+1	tier1	-	no_errors	ENST00000254667	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	T
PTPRK	5796	genome.wustl.edu	37	6	128643411	128643411	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:128643411T>G	ENST00000368215.3	-	3	267	c.268A>C	c.(268-270)Aaa>Caa	p.K90Q	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.K90Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.K90Q|PTPRK_ENST00000368227.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.K90Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000525459.1_Missense_Mutation_p.K90Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	90	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGTCTGGCTTTTTCTCCAGGG	0.388																																																	0													135.0	131.0	132.0					6																	128643411		2203	4300	6503	SO:0001583	missense	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.268A>C	6.37:g.128643411T>G	ENSP00000357198:p.Lys90Gln		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.K90Q	ENST00000368215.3	37	c.268		6	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785295	0.49997	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37;4.37	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.062748	0.64402	D	0.000010	T	0.04861	0.0131	L	0.56199	1.76	0.26460	N	0.975469	P;B;B;D;P;B	0.71674	0.922;0.086;0.214;0.998;0.458;0.403	P;B;B;D;B;B	0.69824	0.627;0.201;0.127;0.966;0.188;0.118	T	0.25082	-1.0142	10	0.48119	T	0.1	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	90;90;90;90;90;90	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	Q	90	ENSP00000357209:K90Q;ENSP00000357210:K90Q;ENSP00000432973:K90Q;ENSP00000357196:K90Q;ENSP00000357193:K90Q;ENSP00000357198:K90Q;ENSP00000357190:K90Q;ENSP00000434116:K90Q	ENSP00000357190:K90Q	K	-	1	0	PTPRK	128685104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.279000	0.51670	2.323000	0.78572	0.528000	0.53228	AAA	PTPRK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000152894		0.388	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0.00	32	0	T			128643411	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	G
PYROXD2	84795	genome.wustl.edu	37	10	100157138	100157140	+	In_Frame_Del	DEL	TCA	TCA	-	rs560401937		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:100157138_100157140delTCA	ENST00000370575.4	-	6	635_637	c.587_589delTGA	c.(586-591)atgagg>agg	p.M196del	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	196							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGAGCGACCTCATCCTTTGCAG	0.591																																																	0																																										SO:0001651	inframe_deletion	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.587_589delTGA	10.37:g.100157138_100157140delTCA	ENSP00000359607:p.Met196del		D3DR61|Q5TAA9|Q9BRQ1	In_Frame_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.M196in_frame_del	ENST00000370575.4	37	c.589_587	CCDS7474.1	10																																																																																			PYROXD2	-	NULL	ENSG00000119943		0.591	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2		0.00	30	0	TCA	NM_032709		100157140	-1	tier1		no_errors	ENST00000370575	ensembl	human	known	74_37	in_frame_del	18.52	22	5	DEL	0.091:0.559:0.990	-
RAG2	5897	genome.wustl.edu	37	11	36615296	36615296	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:36615296G>T	ENST00000311485.3	-	2	584	c.423C>A	c.(421-423)tcC>tcA	p.S141S	C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	141					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCACATTAATGGAATGACCAT	0.428									Familial Hemophagocytic Lymphohistiocytosis																																								0													139.0	130.0	133.0					11																	36615296		2202	4298	6500	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.423C>A	11.37:g.36615296G>T			A8K9E9|Q8TBL4	Silent	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.S141	ENST00000311485.3	37	c.423	CCDS7903.1	11																																																																																			RAG2	-	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000175097		0.428	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1	-	0.00	29	0	G	NM_000536		36615296	-1	tier1	-	no_errors	ENST00000311485	ensembl	human	known	74_37	silent	37.50	10	6	SNP	1.000	T
RBM10	8241	genome.wustl.edu	37	X	47044965	47044965	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:47044965G>T	ENST00000377604.3	+	20	3033	c.2291G>T	c.(2290-2292)tGc>tTc	p.C764F	RBM10_ENST00000329236.7_Missense_Mutation_p.C686F|RBM10_ENST00000345781.6_Missense_Mutation_p.C687F	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	764					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCTGCTCTGCCGACGCCAG	0.657																																					Melanoma(171;120 2705 19495 39241)												0													31.0	24.0	26.0					X																	47044965		2198	4291	6489	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2291G>T	X.37:g.47044965G>T	ENSP00000366829:p.Cys764Phe		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.C764F	ENST00000377604.3	37	c.2291	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151249	0.78001	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	D;D;D	0.90197	-2.19;-2.63;-2.37	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.997;0.999;1.0;0.996;0.999	D	0.96542	0.9401	10	0.62326	D	0.03	-23.2985	16.1684	0.81786	0.0:0.0:1.0:0.0	.	687;829;763;686;764	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	F	764;686;687	ENSP00000366829:C764F;ENSP00000328848:C686F;ENSP00000329659:C687F	ENSP00000328848:C686F	C	+	2	0	RBM10	46929909	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.805000	0.99149	2.509000	0.84616	0.600000	0.82982	TGC	RBM10	-	pfscan_Znf_C2H2	ENSG00000182872		0.657	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	-	0.00	14	0	G	NM_005676		47044965	+1	tier1	-	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T
RBM44	375316	genome.wustl.edu	37	2	238725989	238725990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:238725989_238725990insT	ENST00000409864.1	+	3	684_685	c.430_431insT	c.(430-432)gttfs	p.V144fs	RBM44_ENST00000316997.4_Frame_Shift_Ins_p.V144fs|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.N147fs*1(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAAGAGGAGGTTTTTTTTAAT	0.307																																																	2	Insertion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.438dupT	2.37:g.238725997_238725997dupT	ENSP00000386727:p.Val144fs		A0AUW3	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N147fs	ENST00000409864.1	37	c.430_431	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.307	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2		0.00	72	0	-	NM_001080504		238725990	+1	tier1		no_errors	ENST00000316997	ensembl	human	known	74_37	frame_shift_ins	46.51	46	40	INS	0.000:0.000	T
RBMXL3	139804	genome.wustl.edu	37	X	114426914	114426914	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:114426914T>G	ENST00000424776.3	+	1	2952	c.2910T>G	c.(2908-2910)agT>agG	p.S970R	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	970	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCATCAAGAGTTACGGCCTGA	0.662																																																	0													39.0	38.0	38.0					X																	114426914		692	1591	2283	SO:0001583	missense	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.2910T>G	X.37:g.114426914T>G	ENSP00000417451:p.Ser970Arg		B4DXC0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S970R	ENST00000424776.3	37	c.2910	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	T	7.705	0.693947	0.15039	.	.	ENSG00000175718	ENST00000424776	T	0.05382	3.45	0.149	-0.298	0.12814	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	P	0.55011	0.766	T	0.32719	-0.9896	9	0.87932	D	0	.	2.1903	0.03897	0.0:0.3309:0.335:0.334	.	970	Q8N7X1	RMXL3_HUMAN	R	970	ENSP00000417451:S970R	ENSP00000417451:S970R	S	+	3	2	RBMXL3	114333170	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.439000	0.02414	-1.194000	0.02684	-1.195000	0.01675	AGT	RBMXL3	-	NULL	ENSG00000175718		0.662	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	-	0.00	35	0	T	NM_001145346		114426914	+1	tier1	-	no_errors	ENST00000424776	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.002	G
RFFL	117584	genome.wustl.edu	37	17	33353417	33353417	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:33353417A>G	ENST00000315249.7	-	2	378	c.156T>C	c.(154-156)gcT>gcC	p.A52A	RFFL_ENST00000413582.2_Silent_p.A52A|RFFL_ENST00000447669.2_Silent_p.A52A|RFFL_ENST00000378516.2_Silent_p.A52A|RFFL_ENST00000584655.1_Silent_p.A52A|RFFL_ENST00000394597.2_Silent_p.A52A|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Silent_p.A52A|RFFL_ENST00000415395.2_Silent_p.A52A					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTGCAAAGTGAGCCCCACAGG	0.597																																																	0													93.0	65.0	74.0					17																	33353417		2203	4300	6503	SO:0001819	synonymous_variant	0			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.156T>C	17.37:g.33353417A>G				Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.A52	ENST00000315249.7	37	c.156	CCDS11286.1	17																																																																																			RFFL	-	superfamily_Znf_FYVE_PHD	ENSG00000092871		0.597	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	-	0.00	40	0	A	NM_057178		33353417	-1	tier1	-	no_errors	ENST00000315249	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.798	G
RIMS2	9699	genome.wustl.edu	37	8	105025817	105025817	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:105025817A>G	ENST00000507740.1	+	16	2870	c.2634A>G	c.(2632-2634)ggA>ggG	p.G878G	RIMS2_ENST00000406091.3_Silent_p.G1064G|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Silent_p.G903G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1126	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAATGACTGGAAGATCTGCCC	0.493										HNSCC(12;0.0054)																																							0													121.0	118.0	119.0					8																	105025817		1993	4170	6163	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2634A>G	8.37:g.105025817A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.G1064	ENST00000507740.1	37	c.3192	CCDS43761.1	8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.493	RIMS2-005	NOVEL	basic|CCDS	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367215.1	-	0.00	51	0	A	NM_001100117		105025817	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	55.32	21	26	SNP	1.000	G
RING1	6015	genome.wustl.edu	37	6	33177715	33177715	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:33177715G>T	ENST00000374656.4	+	4	471	c.263G>T	c.(262-264)cGa>cTa	p.R88L	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	88	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCTACCTGCCGAAAGAAGCTG	0.552																																																	0													59.0	53.0	55.0					6																	33177715		2203	4300	6503	SO:0001583	missense	0				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.263G>T	6.37:g.33177715G>T	ENSP00000363787:p.Arg88Leu		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R88L	ENST00000374656.4	37	c.263	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668164	0.67814	.	.	ENSG00000204227	ENST00000374656	T	0.76186	-1.0	4.01	3.12	0.35913	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.64402	D	0.000003	T	0.79470	0.4451	M	0.79258	2.445	0.46499	D	0.999073	D	0.76494	0.999	D	0.68192	0.956	T	0.81803	-0.0765	10	0.87932	D	0	-38.5207	10.5303	0.44973	0.0:0.0:0.8049:0.1951	.	88	Q06587	RING1_HUMAN	L	88	ENSP00000363787:R88L	ENSP00000363787:R88L	R	+	2	0	RING1	33285693	1.000000	0.71417	0.953000	0.39169	0.936000	0.57629	9.189000	0.94928	0.857000	0.35407	0.542000	0.68232	CGA	RING1	-	pfscan_Znf_RING	ENSG00000204227		0.552	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	HGNC	protein_coding	OTTHUMT00000076609.2		0.00	45	0	G			33177715	+1			no_errors	ENST00000374656	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.989	T
RMDN1	51115	genome.wustl.edu	37	8	87517307	87517307	+	Intron	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:87517307C>A	ENST00000406452.3	-	2	407				RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Intron|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1							microtubule (GO:0005874)|mitochondrion (GO:0005739)											GTCATGCCTCCTTCCACCTCC	0.527																																																	0																																										SO:0001627	intron_variant	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.247+1916G>T	8.37:g.87517307C>A			A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	RNA	SNP	-	NULL	ENST00000406452.3	37	NULL	CCDS34918.1	8																																																																																			RMDN1	-	-	ENSG00000176623		0.527	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN1	HGNC	protein_coding	OTTHUMT00000374770.2	-	0.00	53	0	C	NM_016033		87517307	-1	tier1	-	no_errors	ENST00000518772	ensembl	human	putative	74_37	rna	7.14	52	4	SNP	0.934	A
RUVBL2	10856	genome.wustl.edu	37	19	49510282	49510282	+	Silent	SNP	G	G	T	rs367568788		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:49510282G>T	ENST00000595090.1	+	5	737	c.273G>T	c.(271-273)gcG>gcT	p.A91A	RUVBL2_ENST00000601968.1_Silent_p.A46A|RUVBL2_ENST00000413176.2_Silent_p.A46A	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	91					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAGGCATGGCGCAGGCCCTGG	0.637																																																	0													28.0	33.0	31.0					19																	49510282		2059	4179	6238	SO:0001819	synonymous_variant	0			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.273G>T	19.37:g.49510282G>T			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.A91	ENST00000595090.1	37	c.273	CCDS42588.1	19																																																																																			RUVBL2	-	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000183207		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1		0.00	34	0	G			49510282	+1			no_errors	ENST00000595090	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.687	T
RYR2	6262	genome.wustl.edu	37	1	237659920	237659920	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:237659920A>C	ENST00000366574.2	+	20	2388	c.2071A>C	c.(2071-2073)Act>Cct	p.T691P	RYR2_ENST00000360064.6_Missense_Mutation_p.T689P|RYR2_ENST00000542537.1_Missense_Mutation_p.T675P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	691	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTGAAGCAACTCACCTGCG	0.502																																																	0													98.0	104.0	102.0					1																	237659920		1944	4143	6087	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2071A>C	1.37:g.237659920A>C	ENSP00000355533:p.Thr691Pro		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T689P	ENST00000366574.2	37	c.2065	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034097	0.54896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.62364	0.03;0.03;0.03	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.086601	0.47455	D	0.000234	T	0.57301	0.2044	N	0.10760	0.04	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	T	0.57717	-0.7763	10	0.18276	T	0.48	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	691	Q92736	RYR2_HUMAN	P	691;689;675	ENSP00000355533:T691P;ENSP00000353174:T689P;ENSP00000443798:T675P	ENSP00000353174:T689P	T	+	1	0	RYR2	235726543	1.000000	0.71417	0.428000	0.26697	0.863000	0.49368	7.394000	0.79862	2.288000	0.76882	0.528000	0.53228	ACT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	74	0	A	NM_001035		237659920	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.994	C
FSD2	123722	genome.wustl.edu	37	15	83424704	83424704	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:83424704C>T	ENST00000334574.8	-	0	5827				SCARNA15_ENST00000516881.1_RNA|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000561107.1_RNA|RP11-752G15.6_ENST00000544685.2_RNA|RP11-752G15.6_ENST00000558687.1_RNA|RP11-752G15.6_ENST00000559366.1_RNA			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2											breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTGGAGACTAAGAAAATA	0.343																																																	0													88.0	83.0	84.0					15																	83424704		876	1991	2867	SO:0001624	3_prime_UTR_variant	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.*3396G>A	15.37:g.83424704C>T			B3KVG1|B7ZM02	RNA	SNP	-	NULL	ENST00000334574.8	37	NULL	CCDS45332.1	15																																																																																			SCARNA15	-	-	ENSG00000252690		0.343	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARNA15	HGNC	protein_coding	OTTHUMT00000418385.1	-	0.00	56	0	C	NM_001007122		83424704	+1	tier1	-	no_errors	ENST00000516881	ensembl	human	known	74_37	rna	18.75	26	6	SNP	1.000	T
SDK1	221935	genome.wustl.edu	37	7	4169634	4169634	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:4169634A>G	ENST00000404826.2	+	27	4173	c.4034A>G	c.(4033-4035)aAg>aGg	p.K1345R	SDK1_ENST00000389531.3_Missense_Mutation_p.K1345R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1345	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCTGCGCAAGTTCGTGCTC	0.657																																																	0													56.0	53.0	54.0					7																	4169634		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4034A>G	7.37:g.4169634A>G	ENSP00000385899:p.Lys1345Arg		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K1345R	ENST00000404826.2	37	c.4034	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	A	34	5.323113	0.95708	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57273	0.41;0.41	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.81802	2.56	0.58432	D	0.999997	P;D	0.89917	0.927;1.0	P;D	0.87578	0.767;0.998	T	0.77213	-0.2670	10	0.56958	D	0.05	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	1345;1345	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	R	1345	ENSP00000385899:K1345R;ENSP00000374182:K1345R	ENSP00000374182:K1345R	K	+	2	0	SDK1	4136160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.553000	0.90686	2.198000	0.70561	0.533000	0.62120	AAG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	39	0	A	NM_152744		4169634	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	44.12	37	30	SNP	1.000	G
SERPINB9	5272	genome.wustl.edu	37	6	2890433	2890433	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:2890433G>C	ENST00000380698.4	-	7	1184	c.1095C>G	c.(1093-1095)aaC>aaG	p.N365K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	365					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ACAGAATGCTGTTGGCTCTGT	0.542																																																	0													70.0	63.0	65.0					6																	2890433		2203	4300	6503	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1095C>G	6.37:g.2890433G>C	ENSP00000370074:p.Asn365Lys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.N365K	ENST00000380698.4	37	c.1095	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032414	0.07543	.	.	ENSG00000170542	ENST00000380698	D	0.82803	-1.65	4.66	1.6	0.23607	Serpin domain (3);	0.755929	0.13670	N	0.370928	T	0.53850	0.1822	L	0.35288	1.05	0.09310	N	1	B	0.11235	0.004	B	0.23150	0.044	T	0.45745	-0.9240	10	0.24483	T	0.36	.	7.1947	0.25845	0.0849:0.0:0.5382:0.3769	.	365	P50453	SPB9_HUMAN	K	365	ENSP00000370074:N365K	ENSP00000370074:N365K	N	-	3	2	SERPINB9	2835432	0.000000	0.05858	0.170000	0.22879	0.774000	0.43823	-0.204000	0.09425	0.616000	0.30141	-0.137000	0.14449	AAC	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170542		0.542	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0.00	35	0	G			2890433	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.094	C
SETBP1	26040	genome.wustl.edu	37	18	42281628	42281628	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:42281628A>G	ENST00000282030.5	+	2	613	c.317A>G	c.(316-318)aAg>aGg	p.K106R	SETBP1_ENST00000426838.4_Missense_Mutation_p.K106R	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	106						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTGAAGCTAAAGATTCAGACC	0.473									Schinzel-Giedion syndrome																																								0													92.0	94.0	93.0					18																	42281628		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.317A>G	18.37:g.42281628A>G	ENSP00000282030:p.Lys106Arg		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.K106R	ENST00000282030.5	37	c.317	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609998	0.87258	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.76578	-1.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	L	0.46157	1.445	0.43164	D	0.994957	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.86593	0.1861	10	0.87932	D	0	.	15.9206	0.79562	1.0:0.0:0.0:0.0	.	106;106	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	R	106	ENSP00000282030:K106R	ENSP00000282030:K106R	K	+	2	0	SETBP1	40535626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.248000	0.95456	2.148000	0.66965	0.482000	0.46254	AAG	SETBP1	-	NULL	ENSG00000152217		0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0.00	52	0	A	NM_001130110		42281628	+1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	G
SETD5	55209	genome.wustl.edu	37	3	9482266	9482266	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:9482266G>A	ENST00000406341.1	+	7	884	c.694G>A	c.(694-696)Gcg>Acg	p.A232T	SETD5_ENST00000407969.1_Missense_Mutation_p.A251T|SETD5_ENST00000302463.6_Missense_Mutation_p.A134T|SETD5_ENST00000402466.1_Missense_Mutation_p.A134T|SETD5_ENST00000402198.1_Missense_Mutation_p.A232T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	232										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTACAGAACGCGCTTGAACA	0.393																																																	0													100.0	95.0	97.0					3																	9482266		1902	4120	6022	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.694G>A	3.37:g.9482266G>A	ENSP00000383939:p.Ala232Thr		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A232T	ENST00000406341.1	37	c.694	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552695	0.65425	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.91843	-2.59;-2.92;-2.59;-2.59;0.92;-2.92	5.37	4.44	0.53790	.	0.318231	0.29964	N	0.010742	T	0.79811	0.4510	N	0.08118	0	0.30897	N	0.72975	P;P;P	0.49358	0.923;0.509;0.493	B;B;B	0.39152	0.292;0.077;0.089	T	0.77838	-0.2439	10	0.24483	T	0.36	-4.0829	9.0494	0.36367	0.0:0.3939:0.4847:0.1214	.	134;232;251	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	T	232;134;232;251;121;134	ENSP00000385852:A232T;ENSP00000384429:A134T;ENSP00000383939:A232T;ENSP00000384114:A251T;ENSP00000408837:A121T;ENSP00000302028:A134T	ENSP00000302028:A134T	A	+	1	0	SETD5	9457266	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.303000	0.43646	2.697000	0.92050	0.655000	0.94253	GCG	SETD5	-	NULL	ENSG00000168137		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	-	0.00	71	0	G	XM_371614		9482266	+1	tier1	-	no_errors	ENST00000402198	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	A
SGCG	6445	genome.wustl.edu	37	13	23853606	23853606	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:23853606T>G	ENST00000218867.3	+	5	618	c.494T>G	c.(493-495)cTt>cGt	p.L165R	SGCG_ENST00000545013.1_Missense_Mutation_p.L165R|SGCG_ENST00000537476.1_Missense_Mutation_p.L165R	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	165					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ACAGATAAACTTCGAGTAACT	0.388																																																	0													103.0	89.0	94.0					13																	23853606		2203	4300	6503	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.494T>G	13.37:g.23853606T>G	ENSP00000218867:p.Leu165Arg		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.L165R	ENST00000218867.3	37	c.494	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198220	0.38806	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.97688	-4.49;-4.49;-4.49	5.37	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99000	1.0811	10	0.72032	D	0.01	2.7267	11.6754	0.51427	0.1328:0.0:0.0:0.8672	.	165	Q13326	SGCG_HUMAN	R	165	ENSP00000218867:L165R;ENSP00000444100:L165R;ENSP00000442232:L165R	ENSP00000218867:L165R	L	+	2	0	SGCG	22751606	1.000000	0.71417	0.990000	0.47175	0.042000	0.13812	5.447000	0.66606	0.865000	0.35603	0.529000	0.55759	CTT	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.388	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	-	0.00	28	0	T	NM_000231		23853606	+1	tier1	-	no_errors	ENST00000218867	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	G
SI	6476	genome.wustl.edu	37	3	164735779	164735779	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:164735779A>C	ENST00000264382.3	-	29	3561	c.3499T>G	c.(3499-3501)Tta>Gta	p.L1167V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGTTGAGTAAGAAAACACCA	0.338										HNSCC(35;0.089)																																							0													109.0	107.0	108.0					3																	164735779		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3499T>G	3.37:g.164735779A>C	ENSP00000264382:p.Leu1167Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1167V	ENST00000264382.3	37	c.3499	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656788	0.47467	.	.	ENSG00000090402	ENST00000264382	D	0.85339	-1.97	5.17	-0.418	0.12344	Glycoside hydrolase-type carbohydrate-binding (1);	0.082067	0.50627	D	0.000116	D	0.90717	0.7087	H	0.95328	3.655	0.37697	D	0.92407	D	0.56746	0.977	P	0.52481	0.7	D	0.91224	0.5009	10	0.87932	D	0	.	9.7904	0.40702	0.6154:0.0:0.3845:0.0	.	1167	P14410	SUIS_HUMAN	V	1167	ENSP00000264382:L1167V	ENSP00000264382:L1167V	L	-	1	2	SI	166218473	0.975000	0.34042	0.840000	0.33206	0.547000	0.35210	0.774000	0.26675	0.052000	0.16007	0.402000	0.26972	TTA	SI	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000090402		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	46	0	A	NM_001041		164735779	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	45.45	42	35	SNP	0.691	C
SIGLEC9	27180	genome.wustl.edu	37	19	51633330	51633330	+	Silent	SNP	C	C	T	rs143905990	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:51633330C>T	ENST00000250360.3	+	7	1453	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	462					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCAAGATCCACAGATGAGAAA	0.542																																																	0													61.0	58.0	59.0					19																	51633330		2203	4300	6503	SO:0001819	synonymous_variant	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1386C>T	19.37:g.51633330C>T			Q6GTU4|Q9BYI9	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.H462	ENST00000250360.3	37	c.1386	CCDS12825.1	19																																																																																			SIGLEC9	-	NULL	ENSG00000129450		0.542	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	-	0.00	44	0	C	NM_014441		51633330	+1	tier1	-	no_errors	ENST00000250360	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.009	T
SIL1	64374	genome.wustl.edu	37	5	138286898	138286898	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:138286898G>A	ENST00000394817.2	-	9	1130	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	SIL1_ENST00000265195.5_Missense_Mutation_p.R331C|SIL1_ENST00000509534.1_Missense_Mutation_p.R338C|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	331					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGACCACGCGCACGGCGAGC	0.642									Marinesco-Sjgren syndrome																																								0													46.0	39.0	41.0					5																	138286898		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.991C>T	5.37:g.138286898G>A	ENSP00000378294:p.Arg331Cys		D3DQC2|Q8N2L3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R331C	ENST00000394817.2	37	c.991	CCDS4209.1	5	.	.	.	.	.	.	.	.	.	.	G	15.58	2.877119	0.51801	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.52295	0.67;0.67;0.67	6.08	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.73959	-0.3818	10	0.87932	D	0	-9.8156	16.172	0.81825	0.0:0.1336:0.8664:0.0	.	338;331	D6REA1;Q9H173	.;SIL1_HUMAN	C	331;331;338	ENSP00000378294:R331C;ENSP00000265195:R331C;ENSP00000426858:R338C	ENSP00000265195:R331C	R	-	1	0	SIL1	138314797	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	6.637000	0.74304	1.567000	0.49668	-0.176000	0.13171	CGC	SIL1	-	superfamily_ARM-type_fold	ENSG00000120725		0.642	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1		0.00	83	0	G	NM_022464		138286898	-1			no_errors	ENST00000265195	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A
SIM2	6493	genome.wustl.edu	37	21	38115737	38115737	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:38115737G>A	ENST00000290399.6	+	9	1661	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	SIM2_ENST00000430056.3_Missense_Mutation_p.A350T	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	350	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGTGTCCACTGCCAAGTCCCA	0.532																																																	0													119.0	122.0	121.0					21																	38115737		2203	4300	6503	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1048G>A	21.37:g.38115737G>A	ENSP00000290399:p.Ala350Thr		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.A350T	ENST00000290399.6	37	c.1048	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.376|7.376	0.627845|0.627845	0.14257|0.14257	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.05513|.	3.44;3.43|.	4.49|4.49	-1.14|-1.14	0.09741|0.09741	Single-minded, C-terminal (1);|.	0.511841|.	0.13686|.	U|.	0.369855|.	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.01874|0.01874	-0.695|-0.695	0.22142|0.22142	N|N	0.999339|0.999339	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.31668|0.31668	-0.9935|-0.9935	10|5	0.21540|.	T|.	0.41|.	.|.	7.9172|7.9172	0.29825|0.29825	0.0:0.0747:0.4223:0.503|0.0:0.0747:0.4223:0.503	.|.	350;350|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	T|Y	350|287	ENSP00000290399:A350T;ENSP00000404176:A350T|.	ENSP00000290399:A350T|.	A|C	+|+	1|2	0|0	SIM2|SIM2	37037607|37037607	0.809000|0.809000	0.29036|0.29036	0.350000|0.350000	0.25708|0.25708	0.987000|0.987000	0.75469|0.75469	1.320000|1.320000	0.33666|0.33666	-0.413000|-0.413000	0.07507|0.07507	-0.521000|-0.521000	0.04368|0.04368	GCC|TGC	SIM2	-	NULL	ENSG00000159263		0.532	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	-	0.00	40	0	G	NM_009586		38115737	+1	tier1	-	no_errors	ENST00000290399	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.784	A
SIRT4	23409	genome.wustl.edu	37	12	120750388	120750388	+	Silent	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:120750388G>A	ENST00000202967.4	+	3	686	c.627G>A	c.(625-627)gaG>gaA	p.E209E	SIRT4_ENST00000537892.1_3'UTR|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCTCAGAGGAGCAAGTCC	0.582																																																	0													62.0	59.0	60.0					12																	120750388		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.627G>A	12.37:g.120750388G>A				Silent	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.E209	ENST00000202967.4	37	c.627	CCDS9194.1	12																																																																																			SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000089163		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	-	0.00	48	0	G	NM_012240		120750388	+1	tier1	-	no_errors	ENST00000202967	ensembl	human	known	74_37	silent	26.09	51	18	SNP	0.994	A
SKA3	221150	genome.wustl.edu	37	13	21750528	21750528	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:21750528T>C	ENST00000314759.5	-	1	213	c.89A>G	c.(88-90)gAc>gGc	p.D30G	MRP63_ENST00000309594.4_5'Flank|SKA3_ENST00000400018.3_Missense_Mutation_p.D30G	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	30					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCCTCTCCGTCCAGCGCTCG	0.721																																																	0													6.0	7.0	7.0					13																	21750528		2118	4198	6316	SO:0001583	missense	0			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.89A>G	13.37:g.21750528T>C	ENSP00000319417:p.Asp30Gly		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	NULL	p.D30G	ENST00000314759.5	37	c.89	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501161	0.44455	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23348	1.91;1.91	5.68	1.84	0.25277	.	0.713755	0.14067	N	0.343695	T	0.18800	0.0451	L	0.41236	1.265	0.27425	N	0.954174	B;B	0.24426	0.103;0.103	B;B	0.25291	0.059;0.059	T	0.20107	-1.0285	10	0.54805	T	0.06	-0.0194	4.5683	0.12198	0.0:0.1806:0.1646:0.6548	.	30;30	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	G	30	ENSP00000319417:D30G;ENSP00000382896:D30G	ENSP00000298260:D30G	D	-	2	0	SKA3	20648528	0.000000	0.05858	0.795000	0.32087	0.881000	0.50899	0.064000	0.14437	0.381000	0.24851	0.482000	0.46254	GAC	SKA3	-	NULL	ENSG00000165480		0.721	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1		0.00	12	0	T	NM_145061		21750528	-1			no_errors	ENST00000314759	ensembl	human	known	74_37	missense	28.57	5	2	SNP	0.803	C
SLC2A10	81031	genome.wustl.edu	37	20	45354893	45354893	+	Silent	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:45354893A>C	ENST00000359271.2	+	2	1468	c.1218A>C	c.(1216-1218)gcA>gcC	p.A406A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	406					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGGGCATGCACTGCTGCGCT	0.632																																																	0													41.0	41.0	41.0					20																	45354893		2203	4300	6503	SO:0001819	synonymous_variant	0			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1218A>C	20.37:g.45354893A>C			A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A406	ENST00000359271.2	37	c.1218	CCDS13402.1	20																																																																																			SLC2A10	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197496		0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SLC2A10	HGNC	protein_coding	OTTHUMT00000079578.2	-	0.00	89	0	A			45354893	+1	tier1	-	no_errors	ENST00000359271	ensembl	human	known	74_37	silent	5.88	112	7	SNP	0.000	C
SLC39A12	221074	genome.wustl.edu	37	10	18250769	18250769	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:18250769A>T	ENST00000377369.2	+	3	794	c.521A>T	c.(520-522)tAc>tTc	p.Y174F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y40F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y174F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y174F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	174					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACCAGGCAGTACTTTGACACT	0.408																																																	0													62.0	61.0	61.0					10																	18250769		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.521A>T	10.37:g.18250769A>T	ENSP00000366586:p.Tyr174Phe		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.Y174F	ENST00000377369.2	37	c.521	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050145	0.55218	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.64085	1.99;1.99;1.99;-0.08	5.59	5.59	0.84812	.	1.451800	0.03700	N	0.248361	T	0.73745	0.3626	M	0.65975	2.015	0.38283	D	0.942475	P;P;P	0.49253	0.921;0.872;0.921	P;B;P	0.47705	0.555;0.352;0.555	T	0.63462	-0.6632	10	0.72032	D	0.01	-4.3263	15.7769	0.78228	1.0:0.0:0.0:0.0	.	174;174;174	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	174;174;174;40;94	ENSP00000366586:Y174F;ENSP00000366591:Y174F;ENSP00000366588:Y174F;ENSP00000440445:Y40F	ENSP00000366586:Y174F	Y	+	2	0	SLC39A12	18290775	1.000000	0.71417	0.923000	0.36655	0.576000	0.36127	4.498000	0.60373	2.117000	0.64856	0.528000	0.53228	TAC	SLC39A12	-	NULL	ENSG00000148482		0.408	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0.00	51	0	A	NM_152725		18250769	+1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	50.00	19	19	SNP	1.000	T
SLC39A12	221074	genome.wustl.edu	37	10	18289737	18289737	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:18289737A>T	ENST00000377369.2	+	11	2015	c.1742A>T	c.(1741-1743)gAa>gTa	p.E581V	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E447V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E580V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E544V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	581					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTGTGTCATGAAATCCCACAT	0.423																																																	0													113.0	95.0	101.0					10																	18289737		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1742A>T	10.37:g.18289737A>T	ENSP00000366586:p.Glu581Val		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.E581V	ENST00000377369.2	37	c.1742	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442740	0.83993	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.88282	0.2937	10	0.87932	D	0	-25.4045	16.1203	0.81346	1.0:0.0:0.0:0.0	.	580;581;544	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	581;544;580;447;501	ENSP00000366586:E581V;ENSP00000366591:E544V;ENSP00000366588:E580V;ENSP00000440445:E447V	ENSP00000366586:E581V	E	+	2	0	SLC39A12	18329743	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.287000	0.95975	2.274000	0.75844	0.533000	0.62120	GAA	SLC39A12	-	pfam_ZIP	ENSG00000148482		0.423	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0.00	83	0	A	NM_152725		18289737	+1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	63.93	22	39	SNP	1.000	T
SLC5A10	125206	genome.wustl.edu	37	17	18872717	18872717	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:18872717G>A	ENST00000395645.3	+	7	640	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	SLC5A10_ENST00000417251.2_Missense_Mutation_p.V208I|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V208I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	208					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGTGGGGGCTGTCATCCTGAC	0.642																																																	0													53.0	61.0	58.0					17																	18872717		2178	4282	6460	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.622G>A	17.37:g.18872717G>A	ENSP00000379007:p.Val208Ile		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V208I	ENST00000395645.3	37	c.622	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	4.636	0.118229	0.08881	.	.	ENSG00000154025	ENST00000395647;ENST00000417251;ENST00000395645	D;D;D	0.87256	-2.23;-2.23;-2.23	4.94	0.623	0.17654	.	0.272597	0.29145	N	0.013001	T	0.69655	0.3135	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.55885	-0.8070	10	0.27785	T	0.31	.	10.6444	0.45610	0.3575:0.0:0.6425:0.0	.	208;208;208	B4DPI0;A0PJK1;A0PJK1-4	.;SC5AA_HUMAN;.	I	208	ENSP00000379008:V208I;ENSP00000401875:V208I;ENSP00000379007:V208I	ENSP00000379007:V208I	V	+	1	0	SLC5A10	18813442	0.002000	0.14202	0.964000	0.40570	0.349000	0.29174	0.004000	0.13106	0.231000	0.21079	-0.254000	0.11334	GTC	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.642	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0.00	49	0	G	NM_152351		18872717	+1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.186	A
SLC6A12	6539	genome.wustl.edu	37	12	307123	307123	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:307123C>T	ENST00000428720.1	-	9	1636	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.C298Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.C298Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.C298Y|SLC6A12_ENST00000424061.2_Missense_Mutation_p.C298Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	298					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCACCCCTGGCAGATGGCAAA	0.597																																																	0													72.0	81.0	78.0					12																	307123		2203	4300	6503	SO:0001583	missense	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.893G>A	12.37:g.307123C>T	ENSP00000388184:p.Cys298Tyr		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.C298Y	ENST00000428720.1	37	c.893	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236941	0.79800	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	3.95	3.95	0.45737	.	0.056774	0.64402	D	0.000001	D	0.91071	0.7190	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94533	0.7738	10	0.66056	D	0.02	.	16.2044	0.82114	0.0:1.0:0.0:0.0	.	298	P48065	S6A12_HUMAN	Y	298	ENSP00000352702:C298Y;ENSP00000380464:C298Y;ENSP00000388184:C298Y;ENSP00000399136:C298Y;ENSP00000444268:C298Y	ENSP00000352702:C298Y	C	-	2	0	SLC6A12	177384	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.543000	0.82106	2.041000	0.60428	0.561000	0.74099	TGC	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.597	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2		0.00	47	0	C	NM_003044		307123	-1			no_errors	ENST00000359674	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
SLC7A10	56301	genome.wustl.edu	37	19	33703263	33703263	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:33703263G>T	ENST00000253188.4	-	5	869	c.723C>A	c.(721-723)ggC>ggA	p.G241G		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	241					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGGCGAAGGAGCCCTGGAGGA	0.627																																																	0													42.0	37.0	39.0					19																	33703263		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.723C>A	19.37:g.33703263G>T			B2RE84	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.G241	ENST00000253188.4	37	c.723	CCDS12431.1	19																																																																																			SLC7A10	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000130876		0.627	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2		0.00	41	0	G	NM_019849		33703263	-1			no_errors	ENST00000253188	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.998	T
SLC8A1	6546	genome.wustl.edu	37	2	40342680	40342680	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:40342680A>G	ENST00000403092.1	-	11	2668	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	SLC8A1_ENST00000405269.1_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F874L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F871L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F843L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F843L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F874L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F879L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	879					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTCCCAGGAAGACATTCACC	0.567																																																	0													106.0	86.0	93.0					2																	40342680		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2635T>C	2.37:g.40342680A>G	ENSP00000384763:p.Phe879Leu		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.F879L	ENST00000403092.1	37	c.2635	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675068	0.88445	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.07	6.07	0.98685	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.41710	1.295	0.80722	D	1	D;D;D;D	0.89917	0.974;0.999;1.0;1.0	D;D;D;D	0.91635	0.953;0.997;0.986;0.999	T	0.71421	-0.4598	10	0.87932	D	0	.	14.5809	0.68288	1.0:0.0:0.0:0.0	.	843;866;874;879	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	L	843;879;874;879;874;843;843;879;871;866;843;843	ENSP00000383886:F843L;ENSP00000440727:F874L;ENSP00000384763:F879L;ENSP00000385678:F874L;ENSP00000385188:F843L;ENSP00000385535:F843L;ENSP00000332931:F879L;ENSP00000384908:F871L;ENSP00000385811:F843L;ENSP00000443515:F843L	ENSP00000332931:F879L	F	-	1	0	SLC8A1	40196184	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.210000	0.95106	2.326000	0.78906	0.533000	0.62120	TTC	SLC8A1	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000183023		0.567	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0.00	40	0	A	NM_021097		40342680	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	G
SLCO1C1	53919	genome.wustl.edu	37	12	20876179	20876179	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:20876179T>G	ENST00000266509.2	+	9	1545	c.1177T>G	c.(1177-1179)Ttt>Gtt	p.F393V	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F393V|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F393V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F275V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.F344V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	393					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CAGGGCCAACTTTGTGATCGG	0.453																																																	0													146.0	126.0	133.0					12																	20876179		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1177T>G	12.37:g.20876179T>G	ENSP00000266509:p.Phe393Val		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.F393V	ENST00000266509.2	37	c.1177	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344233	0.61073	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.54	4.54	0.55810	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.73753	2.245	0.80722	D	1	D;B;B;B	0.54397	0.966;0.223;0.422;0.411	P;B;B;B	0.58013	0.831;0.394;0.394;0.394	T	0.59112	-0.7515	10	0.34782	T	0.22	.	14.3364	0.66592	0.0:0.0:0.0:1.0	.	275;344;393;393	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	V	393;344;393;393;275	ENSP00000444149:F393V;ENSP00000438665:F344V;ENSP00000266509:F393V;ENSP00000370964:F393V;ENSP00000444527:F275V	ENSP00000266509:F393V	F	+	1	0	SLCO1C1	20767446	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.782000	0.68973	2.031000	0.59945	0.459000	0.35465	TTT	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.453	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0.00	43	0	T	NM_017435		20876179	+1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	55.88	30	38	SNP	1.000	G
SLCO1B1	10599	genome.wustl.edu	37	12	21294585	21294585	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:21294585G>T	ENST00000256958.2	+	2	173	c.77G>T	c.(76-78)gGa>gTa	p.G26V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	26					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TACTGCAATGGATTGAAGGTA	0.284																																																	0													68.0	69.0	69.0					12																	21294585		2203	4295	6498	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.77G>T	12.37:g.21294585G>T	ENSP00000256958:p.Gly26Val		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.G26V	ENST00000256958.2	37	c.77	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	.	9.298	1.052262	0.19827	.	.	ENSG00000134538	ENST00000256958	T	0.58358	0.34	3.52	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);	0.875750	0.09764	N	0.758877	T	0.55465	0.1922	M	0.72118	2.19	0.54753	D	0.99998	D	0.54772	0.968	P	0.49012	0.598	T	0.55554	-0.8123	10	0.54805	T	0.06	.	4.8577	0.13568	0.1223:0.2199:0.6579:0.0	.	26	Q9Y6L6	SO1B1_HUMAN	V	26	ENSP00000256958:G26V	ENSP00000256958:G26V	G	+	2	0	SLCO1B1	21185852	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	0.923000	0.28757	0.450000	0.26774	-0.142000	0.14014	GGA	SLCO1B1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000134538		0.284	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1		0.00	50	0	G	NM_006446		21294585	+1			no_errors	ENST00000256958	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.999	T
SLIT2	9353	genome.wustl.edu	37	4	20255544	20255544	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:20255544G>T	ENST00000504154.1	+	1	358	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	SLIT2_ENST00000503823.1_Missense_Mutation_p.G36C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G36C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G36C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	36	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCTTGCTCGGGCAGCACAGT	0.652																																																	0													90.0	74.0	79.0					4																	20255544		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.106G>T	4.37:g.20255544G>T	ENSP00000422591:p.Gly36Cys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G36C	ENST00000504154.1	37	c.106	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.106009	0.94292	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71414	0.965;0.973	T	0.76990	-0.2754	10	0.87932	D	0	.	15.8964	0.79338	0.0:0.0:1.0:0.0	.	36;36	O94813-3;O94813	.;SLIT2_HUMAN	C	36	ENSP00000427548:G36C;ENSP00000422591:G36C;ENSP00000273739:G36C;ENSP00000422261:G36C	ENSP00000273739:G36C	G	+	1	0	SLIT2	19864642	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	8.773000	0.91762	2.130000	0.65690	0.313000	0.20887	GGC	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.652	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	67	0	G			20255544	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
SLITRK5	26050	genome.wustl.edu	37	13	88329367	88329367	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:88329367A>G	ENST00000325089.6	+	2	1943	c.1724A>G	c.(1723-1725)aAg>aGg	p.K575R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.K334R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	575	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGGCATGAAGCTGTGGGTG	0.522																																																	0													151.0	139.0	143.0					13																	88329367		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1724A>G	13.37:g.88329367A>G	ENSP00000366283:p.Lys575Arg		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K575R	ENST00000325089.6	37	c.1724	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068585	0.55539	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.52526	0.7;0.66	5.26	4.04	0.47022	Cysteine-rich flanking region, C-terminal (1);	0.113435	0.56097	D	0.000023	T	0.45796	0.1360	L	0.35341	1.055	0.46298	D	0.998971	P;D	0.54772	0.861;0.968	P;P	0.53518	0.533;0.728	T	0.25293	-1.0136	9	.	.	.	-17.2028	9.5843	0.39506	0.8429:0.0:0.0:0.157	.	334;575	B4DSH5;O94991	.;SLIK5_HUMAN	R	575;334	ENSP00000366283:K575R;ENSP00000442244:K334R	.	K	+	2	0	SLITRK5	87127368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.315000	0.72853	0.783000	0.33636	0.454000	0.30748	AAG	SLITRK5	-	smart_Cys-rich_flank_reg_C	ENSG00000165300		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	29	0	A			88329367	+1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	79.31	6	23	SNP	1.000	G
SMAD6	4091	genome.wustl.edu	37	15	66995607	66995607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:66995607delC	ENST00000288840.5	+	1	1042	c.11delC	c.(10-12)tccfs	p.S4fs	SMAD6_ENST00000457357.2_Frame_Shift_Del_p.S4fs	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	4					BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						ATGTTCAGGTCCAAACGCTCG	0.721																																					Esophageal Squamous(179;72 2004 22333 39628 47290)												0													5.0	4.0	4.0					15																	66995607		1746	3608	5354	SO:0001589	frameshift_variant	0			BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.11delC	15.37:g.66995607delC	ENSP00000288840:p.Ser4fs		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Frame_Shift_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.K5fs	ENST00000288840.5	37	c.11	CCDS10221.1	15																																																																																			SMAD6	-	NULL	ENSG00000137834		0.721	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD6	HGNC	protein_coding	OTTHUMT00000256953.2		0.00	99	0	C	NM_005585		66995607	+1	tier1		no_errors	ENST00000288840	ensembl	human	known	74_37	frame_shift_del	70.65	27	65	DEL	1.000	-
SMAD3	4088	genome.wustl.edu	37	15	67479750	67479750	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:67479750G>T	ENST00000327367.4	+	8	1367	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	SMAD3_ENST00000537194.2_Missense_Mutation_p.A158S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A309S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A248S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	353	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TGCCCTCCTGGCCCAGTCGGT	0.572																																																	0													127.0	111.0	116.0					15																	67479750		2201	4299	6500	SO:0001583	missense	0			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1057G>T	15.37:g.67479750G>T	ENSP00000332973:p.Ala353Ser		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.A353S	ENST00000327367.4	37	c.1057	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442076	0.25987	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	5.41	5.41	0.78517	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.103873	0.64402	D	0.000003	D	0.93677	0.7980	N	0.02802	-0.49	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	D	0.90365	0.4376	10	0.02654	T	1	.	19.5608	0.95371	0.0:0.0:1.0:0.0	.	309;353	B7Z4Z5;P84022	.;SMAD3_HUMAN	S	353;353;248;309;158	ENSP00000332973:A353S;ENSP00000437757:A248S;ENSP00000401133:A309S;ENSP00000445348:A158S	ENSP00000332973:A353S	A	+	1	0	SMAD3	65266804	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.662000	0.83803	2.698000	0.92095	0.561000	0.74099	GCC	SMAD3	-	pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000166949		0.572	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	-	0.00	40	0	G	NM_005902		67479750	+1	tier1	-	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	T
SMARCB1	6598	genome.wustl.edu	37	22	24159083	24159083	+	Missense_Mutation	SNP	G	G	C	rs372924301		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:24159083G>C	ENST00000263121.7	+	6	951	c.755G>C	c.(754-756)aGc>aCc	p.S252T	SMARCB1_ENST00000344921.6_Missense_Mutation_p.S261T|SMARCB1_ENST00000407422.3_Missense_Mutation_p.S243T|SMARCB1_ENST00000407082.3_Missense_Mutation_p.S206T|SMARCB1_ENST00000477836.1_3'UTR	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	252	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCCACGGACAGCATCCTGGAG	0.572			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											113.0	88.0	96.0					22																	24159083		2203	4300	6503	SO:0001583	missense	0			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.755G>C	22.37:g.24159083G>C	ENSP00000263121:p.Ser252Thr		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.S252T	ENST00000263121.7	37	c.755	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833334	0.16820	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.17	5.17	0.71159	.	0.148074	0.85682	D	0.000000	T	0.48677	0.1513	N	0.00538	-1.39	0.58432	D	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.002;0.004	T	0.52419	-0.8578	10	0.15952	T	0.53	-17.1669	18.0935	0.89481	0.0:0.0:1.0:0.0	.	261;243;252	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	T	261;252;243;206	ENSP00000340883:S261T;ENSP00000263121:S252T;ENSP00000383984:S243T;ENSP00000385226:S206T	ENSP00000263121:S252T	S	+	2	0	SMARCB1	22489083	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.559000	0.73946	2.602000	0.87976	0.585000	0.79938	AGC	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.572	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1		0.00	39	0	G	NM_003073		24159083	+1			no_errors	ENST00000263121	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	C
SMG1	23049	genome.wustl.edu	37	16	18937310	18937312	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:18937310_18937312delGCC	ENST00000446231.2	-	1	464_466	c.52_54delGGC	c.(52-54)ggcdel	p.G18del	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_In_Frame_Del_p.G18del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	18	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATACTTGGTgccgccgccgccg	0.749																																																	0										68,1646		5,58,794						4.3	1.0			5	233,4695		15,203,2246	no	coding	SMG1	NM_015092.4		20,261,3040	A1A1,A1R,RR		4.7281,3.9673,4.5318				301,6341				SO:0001651	inframe_deletion	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.52_54delGGC	16.37:g.18937319_18937321delGCC	ENSP00000402515:p.Gly18del		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	In_Frame_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G18in_frame_del	ENST00000446231.2	37	c.54_52	CCDS45430.1	16																																																																																			SMG1	-	NULL	ENSG00000157106		0.749	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1		0.00	44	0	GCC	NM_015092		18937312	-1	tier1		no_errors	ENST00000389467	ensembl	human	known	74_37	in_frame_del	10.34	26	3	DEL	1.000:1.000:1.000	-
SPATA6	54558	genome.wustl.edu	37	1	48821318	48821319	+	Intron	INS	-	-	A	rs147569864	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:48821318_48821319insA	ENST00000371847.3	-	11	1359				SPATA6_ENST00000371843.3_Intron|SPATA6_ENST00000396199.3_Intron	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAATAGTCTTCAAAAAAAAATT	0.342													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	205	0.0409345	0.0068	0.0504	5008	,	,		15354	0.001		0.0855	False		,,,				2504	0.0757																0																																										SO:0001627	intron_variant	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1194+22->T	1.37:g.48821327_48821327dupA			Q5T3N7|Q8WUE6	RNA	INS	-	NULL	ENST00000371847.3	37	NULL	CCDS551.1	1																																																																																			SPATA6	-	-	ENSG00000132122		0.342	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1		0.00	31	0	-	NM_019073		48821319	-1	tier1		no_errors	ENST00000487629	ensembl	human	known	74_37	rna	8.00	23	2	INS	0.002:0.002	A
SPINT3	10816	genome.wustl.edu	37	20	44144216	44144216	+	Silent	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:44144216C>G	ENST00000217428.6	-	1	48	c.33G>C	c.(31-33)ctG>ctC	p.L11L		NM_006652.1	NP_006643.1	P49223	SPIT3_HUMAN	serine peptidase inhibitor, Kunitz type, 3	11						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)	1						GAGTGAGAATCAGGAGAAACG	0.547																																																	0													71.0	65.0	67.0					20																	44144216		692	1591	2283	SO:0001819	synonymous_variant	0			X77166	CCDS46608.1	20q12-q13.2	2012-08-20	2005-08-17		ENSG00000101446	ENSG00000101446			11248	protein-coding gene	gene with protein product		613941	"""serine protease inhibitor, Kunitz type, 3"""			21988899	Standard	NM_006652		Approved	HKIB9	uc010ghg.1	P49223	OTTHUMG00000032585	ENST00000217428.6:c.33G>C	20.37:g.44144216C>G			A6NCQ6|Q6UDR8|Q96KK2	Silent	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L11	ENST00000217428.6	37	c.33	CCDS46608.1	20																																																																																			SPINT3	-	NULL	ENSG00000101446		0.547	SPINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT3	HGNC	protein_coding	OTTHUMT00000079464.5	-	0.00	31	0	C	NM_006652		44144216	-1	tier1	-	no_errors	ENST00000217428	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.215	G
SPTA1	6708	genome.wustl.edu	37	1	158583608	158583608	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:158583608A>G	ENST00000368147.4	-	50	7072	c.6892T>C	c.(6892-6894)Tcc>Ccc	p.S2298P	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2298	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCAGGCAGGACCGGAACTCT	0.433																																																	0													57.0	56.0	56.0					1																	158583608		1881	4104	5985	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6892T>C	1.37:g.158583608A>G	ENSP00000357129:p.Ser2298Pro		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S2298P	ENST00000368147.4	37	c.6892	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564413	0.65651	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.22945	1.93;1.93	5.21	4.07	0.47477	EF-hand-like domain (1);	0.000000	0.31636	N	0.007309	T	0.44371	0.1290	M	0.87758	2.905	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	T	0.54091	-0.8345	10	0.87932	D	0	.	11.3039	0.49323	0.8472:0.1528:0.0:0.0	.	2298	P02549	SPTA1_HUMAN	P	2298;2295	ENSP00000357130:S2298P;ENSP00000357129:S2295P	ENSP00000357129:S2295P	S	-	1	0	SPTA1	156850232	1.000000	0.71417	0.988000	0.46212	0.552000	0.35366	8.258000	0.89853	0.985000	0.38656	0.528000	0.53228	TCC	SPTA1	-	pfscan_EF_hand_dom	ENSG00000163554		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	58	0	A	NM_003126		158583608	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	G
STARD13	90627	genome.wustl.edu	37	13	33700340	33700340	+	Missense_Mutation	SNP	C	C	A	rs369013604		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:33700340C>A	ENST00000336934.5	-	7	2076	c.1960G>T	c.(1960-1962)Gac>Tac	p.D654Y	STARD13_ENST00000255486.4_Missense_Mutation_p.D646Y|STARD13_ENST00000399365.3_Missense_Mutation_p.D536Y	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	654					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTTTGTAGTCGGGAACTTTC	0.498																																																	0													185.0	173.0	177.0					13																	33700340		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1960G>T	13.37:g.33700340C>A	ENSP00000338785:p.Asp654Tyr		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.D654Y	ENST00000336934.5	37	c.1960	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.168741	0.94768	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.08807	3.05;3.06;3.06	6.17	6.17	0.99709	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.07443	-1.0772	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	619;654;646	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	Y	536;646;654;646	ENSP00000382300:D536Y;ENSP00000255486:D646Y;ENSP00000338785:D654Y	ENSP00000255486:D646Y	D	-	1	0	STARD13	32598340	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.686000	0.84128	2.941000	0.99782	0.655000	0.94253	GAC	STARD13	-	NULL	ENSG00000133121		0.498	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0.00	39	0	C	NM_001243466		33700340	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	A
STPG2	285555	genome.wustl.edu	37	4	98480236	98480236	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:98480236A>G	ENST00000295268.3	-	11	1442	c.1353T>C	c.(1351-1353)atT>atC	p.I451I	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	451																	CCATTTCACCAATGAGATTTC	0.269																																																	0													84.0	94.0	91.0					4																	98480236		2201	4292	6493	SO:0001819	synonymous_variant	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1353T>C	4.37:g.98480236A>G				Silent	SNP	NULL	p.I451	ENST00000295268.3	37	c.1353	CCDS3645.1	4																																																																																			STPG2	-	NULL	ENSG00000163116		0.269	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1	-	0.00	121	0	A	NM_174952		98480236	-1	tier1	-	no_errors	ENST00000295268	ensembl	human	known	74_37	silent	32.56	57	28	SNP	0.000	G
STRN4	29888	genome.wustl.edu	37	19	47231922	47231922	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:47231922G>A	ENST00000263280.6	-	7	1041	c.992C>T	c.(991-993)gCt>gTt	p.A331V	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000391910.3_Missense_Mutation_p.A331V|STRN4_ENST00000539396.1_Missense_Mutation_p.A212V	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	331						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGGGTCTGGAGCCCCTTCCCC	0.612																																																	0													76.0	72.0	73.0					19																	47231922		2203	4300	6503	SO:0001583	missense	0			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.992C>T	19.37:g.47231922G>A	ENSP00000263280:p.Ala331Val		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A331V	ENST00000263280.6	37	c.992	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080488	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.68765	-0.34;-0.35;-0.19	4.64	4.64	0.57946	.	0.356700	0.20788	N	0.085676	T	0.75155	0.3811	L	0.54323	1.7	0.42130	D	0.991468	P;B	0.41710	0.76;0.048	P;B	0.54706	0.759;0.038	T	0.75758	-0.3205	10	0.48119	T	0.1	-2.0236	16.4195	0.83753	0.0:0.0:1.0:0.0	.	331;331	F8VYA6;Q9NRL3	.;STRN4_HUMAN	V	331;331;212;212	ENSP00000375777:A331V;ENSP00000263280:A331V;ENSP00000440901:A212V	ENSP00000263280:A331V	A	-	2	0	STRN4	51923762	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.407000	0.73280	2.418000	0.82041	0.561000	0.74099	GCT	STRN4	-	NULL	ENSG00000090372		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	-	0.00	128	0	G			47231922	-1	tier1	-	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	20.16	103	26	SNP	1.000	A
SUPV3L1	6832	genome.wustl.edu	37	10	70968804	70968805	+	3'UTR	INS	-	-	TT	rs372365210|rs35757450|rs373514760	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:70968804_70968805insTT	ENST00000359655.4	+	0	2434_2435					NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)						ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTTCCTGttttttttttt	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.*14->TT	10.37:g.70968813_70968814dupTT			A8K301|O43630	RNA	INS	-	NULL	ENST00000359655.4	37	NULL	CCDS7287.1	10																																																																																			SUPV3L1	-	-	ENSG00000156502		0.337	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2		0.00	35	0	-	NM_003171		70968805	+1	tier1		no_errors	ENST00000497254	ensembl	human	known	74_37	rna	16.00	21	4	INS	0.013:0.002	TT
SVOPL	136306	genome.wustl.edu	37	7	138341216	138341216	+	Missense_Mutation	SNP	C	C	T	rs535345971		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:138341216C>T	ENST00000419765.3	-	6	544	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	SVOPL_ENST00000436657.1_Missense_Mutation_p.G19S|SVOPL_ENST00000288513.5_Missense_Mutation_p.G19S|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	171						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACATATAGCCTCGGTATTTC	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0																0													144.0	131.0	136.0					7																	138341216		2203	4300	6503	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.511G>A	7.37:g.138341216C>T	ENSP00000405482:p.Gly171Ser			Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G19S	ENST00000419765.3	37	c.55	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955609	0.73902	.	.	ENSG00000157703	ENST00000288513;ENST00000436657;ENST00000419765	T;T;T	0.81078	-1.45;-1.45;-0.26	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.097926	0.64402	D	0.000001	D	0.86268	0.5892	M	0.78285	2.405	0.40880	D	0.983983	P;P	0.50943	0.94;0.51	P;B	0.50791	0.65;0.154	D	0.88552	0.3117	10	0.66056	D	0.02	-22.6344	17.8837	0.88848	0.0:1.0:0.0:0.0	.	171;19	Q8N434;Q8N434-2	SVOPL_HUMAN;.	S	19;19;171	ENSP00000288513:G19S;ENSP00000417018:G19S;ENSP00000405482:G171S	ENSP00000288513:G19S	G	-	1	0	SVOPL	137991756	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.624000	0.67764	2.513000	0.84729	0.585000	0.79938	GGC	SVOPL	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.358	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0.00	28	0	C	NM_174959		138341216	-1	tier1	-	no_errors	ENST00000288513	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	T
SYNDIG1	79953	genome.wustl.edu	37	20	24565587	24565587	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:24565587C>T	ENST00000376862.3	+	3	1209	c.576C>T	c.(574-576)tgC>tgT	p.C192C	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	192					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCTCTGCTGCTTCTGGCCTC	0.597																																																	0													146.0	130.0	135.0					20																	24565587		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.576C>T	20.37:g.24565587C>T			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.C192	ENST00000376862.3	37	c.576	CCDS13164.1	20																																																																																			SYNDIG1	-	pfam_CD225/Dispanin_fam	ENSG00000101463		0.597	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0.00	47	0	C	NM_024893		24565587	+1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	silent	29.47	66	28	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152631081	152631081	+	Silent	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:152631081C>A	ENST00000367255.5	-	90	17692	c.17091G>T	c.(17089-17091)cgG>cgT	p.R5697R	SYNE1_ENST00000356820.4_Silent_p.R221R|SYNE1_ENST00000341594.5_Silent_p.R5309R|SYNE1_ENST00000265368.4_Silent_p.R5697R|SYNE1_ENST00000423061.1_Silent_p.R5626R|SYNE1_ENST00000448038.1_Silent_p.R5626R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5697					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCGGGGATCCGGAGGGCAC	0.547										HNSCC(10;0.0054)																																							0													54.0	50.0	51.0					6																	152631081		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17091G>T	6.37:g.152631081C>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5697	ENST00000367255.5	37	c.17091	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	39	0	C	NM_182961		152631081	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	60.00	24	36	SNP	0.998	A
SYNE1	23345	genome.wustl.edu	37	6	152738095	152738095	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:152738095T>C	ENST00000367255.5	-	41	6078	c.5477A>G	c.(5476-5478)cAc>cGc	p.H1826R	SYNE1_ENST00000341594.5_Missense_Mutation_p.H1863R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1826R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1833R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1833R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1826					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTAAGTGACCCTGCAG	0.537										HNSCC(10;0.0054)																																							0													111.0	112.0	112.0					6																	152738095		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5477A>G	6.37:g.152738095T>C	ENSP00000356224:p.His1826Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H1826R	ENST00000367255.5	37	c.5477	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	11.53	1.664758	0.29604	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	6.16	5.0	0.66597	.	0.088552	0.49305	D	0.000142	T	0.12092	0.0294	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.27559	0.016;0.03;0.03;0.181	B;B;B;B	0.27380	0.005;0.007;0.007;0.079	T	0.05937	-1.0855	10	0.15499	T	0.54	.	8.5381	0.33375	0.1168:0.0639:0.0:0.8194	.	1809;1826;1826;1833	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	1826;1833;1826;1833;1863	ENSP00000356224:H1826R;ENSP00000396024:H1833R;ENSP00000265368:H1826R;ENSP00000390975:H1833R;ENSP00000341887:H1863R	ENSP00000265368:H1826R	H	-	2	0	SYNE1	152779788	1.000000	0.71417	0.851000	0.33527	0.816000	0.46133	3.123000	0.50453	1.149000	0.42402	0.528000	0.53228	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	30	0	T	NM_182961		152738095	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	C
TAS2R3	50831	genome.wustl.edu	37	7	141464738	141464738	+	Silent	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:141464738A>G	ENST00000247879.2	+	1	842	c.780A>G	c.(778-780)ccA>ccG	p.P260P	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	260					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTTCCTACCAAAAACCAAGA	0.398																																																	0													125.0	115.0	118.0					7																	141464738		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.780A>G	7.37:g.141464738A>G			A4D1U2|Q645W2|Q75MV6	Silent	SNP	pfam_TAS2_rcpt	p.P260	ENST00000247879.2	37	c.780	CCDS5867.1	7																																																																																			TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.398	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	-	0.00	80	0	A			141464738	+1	tier1	-	no_errors	ENST00000247879	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.503	G
TAS2R50	259296	genome.wustl.edu	37	12	11138780	11138780	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:11138780G>T	ENST00000506868.1	-	1	731	c.680C>A	c.(679-681)gCt>gAt	p.A227D	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AGTTTGCAAAGCTTTTATGTG	0.443																																																	0													151.0	148.0	149.0					12																	11138780		2203	4300	6503	SO:0001583	missense	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.680C>A	12.37:g.11138780G>T	ENSP00000424040:p.Ala227Asp		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.A227D	ENST00000506868.1	37	c.680	CCDS8638.1	12	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533404	0.45073	.	.	ENSG00000212126	ENST00000506868	T	0.01505	4.82	2.19	2.19	0.27852	.	0.093502	0.41605	U	0.000842	T	0.15349	0.0370	H	0.97315	3.98	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.08046	-1.0741	10	0.87932	D	0	.	10.0176	0.42024	0.0:0.0:1.0:0.0	.	227	P59544	T2R50_HUMAN	D	227	ENSP00000424040:A227D	ENSP00000424040:A227D	A	-	2	0	TAS2R50	11030047	0.016000	0.18221	0.003000	0.11579	0.163000	0.22366	1.611000	0.36879	1.216000	0.43427	0.313000	0.20887	GCT	TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.443	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2		0.00	80	0	G	NM_176890		11138780	-1			no_errors	ENST00000506868	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.025	T
TBC1D32	221322	genome.wustl.edu	37	6	121577239	121577239	+	Silent	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:121577239T>A	ENST00000398212.2	-	16	1975	c.1926A>T	c.(1924-1926)gcA>gcT	p.A642A	TBC1D32_ENST00000275159.6_Silent_p.A642A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	642					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.A642A(1)									CCTTTTTCCATGCCTTTGCTA	0.313																																																	1	Substitution - coding silent(1)	lung(1)											85.0	77.0	80.0					6																	121577239		1814	4081	5895	SO:0001819	synonymous_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1926A>T	6.37:g.121577239T>A			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	superfamily_Rab-GTPase-TBC_dom	p.A642	ENST00000398212.2	37	c.1926	CCDS43501.1	6																																																																																			TBC1D32	-	NULL	ENSG00000146350		0.313	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2		0.00	35	0	T	NM_152730		121577239	-1			no_errors	ENST00000275159	ensembl	human	putative	74_37	silent	5.26	54	3	SNP	0.659	A
TCEAL2	140597	genome.wustl.edu	37	X	101381791	101381791	+	5'UTR	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:101381791G>T	ENST00000372780.1	+	0	208				TCEAL2_ENST00000476749.1_3'UTR|TCEAL2_ENST00000329035.2_5'UTR	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAAAGGAGGGGAAATCTCGA	0.498																																																	0													58.0	55.0	56.0					X																	101381791		2202	4299	6501	SO:0001623	5_prime_UTR_variant	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.-12G>T	X.37:g.101381791G>T			B2R5C7	RNA	SNP	-	NULL	ENST00000372780.1	37	NULL	CCDS14496.1	X																																																																																			TCEAL2	-	-	ENSG00000184905		0.498	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	-	0.00	35	0	G	NM_080390		101381791	+1	tier1	-	no_errors	ENST00000476749	ensembl	human	known	74_37	rna	75.00	9	27	SNP	0.669	T
TENC1	23371	genome.wustl.edu	37	12	53454737	53454737	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:53454737C>G	ENST00000314250.6	+	20	3337	c.3047C>G	c.(3046-3048)cCc>cGc	p.P1016R	TENC1_ENST00000546602.1_Missense_Mutation_p.P919R|TENC1_ENST00000552570.1_Missense_Mutation_p.P1016R|TENC1_ENST00000451358.1_Missense_Mutation_p.P1006R|TENC1_ENST00000549700.1_Missense_Mutation_p.P951R|TENC1_ENST00000379902.3_Missense_Mutation_p.P892R|TENC1_ENST00000314276.3_Missense_Mutation_p.P1026R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1016	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGCCACGCCCCCTGGCAAGGC	0.697																																																	0													15.0	17.0	16.0					12																	53454737		2195	4292	6487	SO:0001583	missense	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3047C>G	12.37:g.53454737C>G	ENSP00000319684:p.Pro1016Arg		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P1026R	ENST00000314250.6	37	c.3077	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705963	0.30232	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94232	-3.36;-3.36;-3.36;-3.36;-3.38;-3.36;-3.36	4.55	4.55	0.56014	.	0.415331	0.23780	N	0.044625	D	0.88485	0.6449	N	0.24115	0.695	0.37393	D	0.91251	B;B;B;P	0.36837	0.343;0.343;0.435;0.571	B;B;B;B	0.39419	0.206;0.206;0.157;0.299	D	0.89529	0.3784	10	0.41790	T	0.15	-2.9156	13.0164	0.58759	0.0:1.0:0.0:0.0	.	1016;919;1016;1026	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	R	892;1026;1016;1006;919;1016;951	ENSP00000369232:P892R;ENSP00000319756:P1026R;ENSP00000319684:P1016R;ENSP00000393362:P1006R;ENSP00000449363:P919R;ENSP00000447021:P1016R;ENSP00000449361:P951R	ENSP00000319684:P1016R	P	+	2	0	TENC1	51741004	0.000000	0.05858	1.000000	0.80357	0.894000	0.52154	0.248000	0.18198	2.537000	0.85549	0.561000	0.74099	CCC	TENC1	-	NULL	ENSG00000111077		0.697	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	-	0.00	62	0	C	NM_170754		53454737	+1	tier1	-	no_errors	ENST00000314276	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.994	G
TEX15	56154	genome.wustl.edu	37	8	30702209	30702209	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:30702209A>G	ENST00000256246.2	-	1	4399	c.4325T>C	c.(4324-4326)gTa>gCa	p.V1442A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1442					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGAGCCTTTTACATTATCTTT	0.353																																																	0													73.0	71.0	72.0					8																	30702209		2202	4300	6502	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4325T>C	8.37:g.30702209A>G	ENSP00000256246:p.Val1442Ala			Missense_Mutation	SNP	NULL	p.V1442A	ENST00000256246.2	37	c.4325	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627165	0.28978	.	.	ENSG00000133863	ENST00000256246	T	0.12879	2.64	5.32	-2.98	0.05513	.	1.765580	0.02650	N	0.106274	T	0.09730	0.0239	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.36407	-0.9749	10	0.87932	D	0	.	0.2633	0.00221	0.3368:0.1421:0.2451:0.276	.	1442	Q9BXT5	TEX15_HUMAN	A	1442	ENSP00000256246:V1442A	ENSP00000256246:V1442A	V	-	2	0	TEX15	30821751	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.107000	0.15375	-0.450000	0.07107	0.528000	0.53228	GTA	TEX15	-	NULL	ENSG00000133863		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0.00	53	0	A			30702209	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	G
TEX29	121793	genome.wustl.edu	37	13	111992279	111992279	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:111992279G>T	ENST00000283547.1	+	4	368	c.239G>T	c.(238-240)aGa>aTa	p.R80I		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	80						integral component of membrane (GO:0016021)											ATCATCTACAGGTCGGTCCCT	0.552																																																	0													193.0	180.0	185.0					13																	111992279		2203	4300	6503	SO:0001630	splice_region_variant	0			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.239+1G>T	13.37:g.111992279G>T				Missense_Mutation	SNP	NULL	p.R80I	ENST00000283547.1	37	c.239	CCDS9522.1	13	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857780	0.32791	.	.	ENSG00000153495	ENST00000283547	.	.	.	4.09	1.39	0.22231	.	0.173708	0.27811	N	0.017747	T	0.54224	0.1845	L	0.32530	0.975	0.48341	D	0.99963	D	0.76494	0.999	D	0.69479	0.964	T	0.52056	-0.8626	9	0.72032	D	0.01	-16.9221	6.2435	0.20803	0.3201:0.0:0.6799:0.0	.	80	Q8N6K0	CM016_HUMAN	I	80	.	ENSP00000283547:R80I	R	+	2	0	C13orf16	110790280	1.000000	0.71417	0.962000	0.40283	0.163000	0.22366	0.694000	0.25512	0.143000	0.18926	0.563000	0.77884	AGA	TEX29	-	NULL	ENSG00000153495		0.552	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	HGNC	protein_coding	OTTHUMT00000045812.2	-	0.00	39	0	G	NM_152324	Missense_Mutation	111992279	+1	tier1	-	no_errors	ENST00000283547	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.993	T
THOP1	7064	genome.wustl.edu	37	19	2807532	2807532	+	Missense_Mutation	SNP	C	C	A	rs146411808	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:2807532C>A	ENST00000307741.6	+	8	1182	c.979C>A	c.(979-981)Ccc>Acc	p.P327T	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.P206T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	327					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGCCTGCCCTTCGACGG	0.652																																																	0													40.0	43.0	42.0					19																	2807532		2198	4299	6497	SO:0001583	missense	0				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.979C>A	19.37:g.2807532C>A	ENSP00000304467:p.Pro327Thr		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.P327T	ENST00000307741.6	37	c.979	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	C	2.711	-0.268806	0.05716	.	.	ENSG00000172009	ENST00000307741	T	0.07800	3.16	5.18	-10.4	0.00318	Neurolysin/Thimet oligopeptidase, domain 2 (1);	1.509970	0.03630	N	0.237692	T	0.05731	0.0150	N	0.10972	0.075	0.33706	D	0.615143	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31724	-0.9933	10	0.49607	T	0.09	-15.2927	19.6846	0.95976	0.0683:0.2435:0.6882:0.0	.	206;327	B4DU96;P52888	.;THOP1_HUMAN	T	327	ENSP00000304467:P327T	ENSP00000304467:P327T	P	+	1	0	THOP1	2758532	0.025000	0.19082	0.001000	0.08648	0.001000	0.01503	0.109000	0.15417	-1.950000	0.01030	-2.866000	0.00100	CCC	THOP1	-	pfam_Pept_M3A_M3B	ENSG00000172009		0.652	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	-	0.00	86	0	C			2807532	+1	tier1	-	no_errors	ENST00000307741	ensembl	human	known	74_37	missense	9.47	86	9	SNP	0.002	A
TM9SF4	9777	genome.wustl.edu	37	20	30720898	30720898	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:30720898A>C	ENST00000398022.2	+	2	333	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TM9SF4_ENST00000217315.5_Missense_Mutation_p.N16T	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	33						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCGCCTATCAACTTCCACCAG	0.522																																																	0													145.0	121.0	129.0					20																	30720898		2203	4300	6503	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.98A>C	20.37:g.30720898A>C	ENSP00000381104:p.Asn33Thr		B0QYT7|Q9NUA3	Missense_Mutation	SNP	pfam_EMP70	p.N33T	ENST00000398022.2	37	c.98	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552102	0.65311	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.41400	1.6;1.0	5.2	5.2	0.72013	.	0.055403	0.85682	D	0.000000	T	0.31949	0.0813	N	0.21545	0.675	0.80722	D	1	B	0.23377	0.084	B	0.23275	0.045	T	0.08827	-1.0703	10	0.44086	T	0.13	-26.4195	15.2381	0.73447	1.0:0.0:0.0:0.0	.	33	Q92544	TM9S4_HUMAN	T	33;16	ENSP00000381104:N33T;ENSP00000217315:N16T	ENSP00000217315:N16T	N	+	2	0	TM9SF4	30184559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.612000	0.90909	2.187000	0.69744	0.533000	0.62120	AAC	TM9SF4	-	NULL	ENSG00000101337		0.522	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	-	0.00	54	0	A	NM_014742		30720898	+1	tier1	-	no_errors	ENST00000398022	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	C
TMEM229A	730130	genome.wustl.edu	37	7	123672074	123672074	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:123672074G>T	ENST00000455783.1	-	1	1449	c.984C>A	c.(982-984)ctC>ctA	p.L328L	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	328						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						CGCACGTGCGGAGTCCCAGAC	0.557																																																	0													41.0	49.0	47.0					7																	123672074		692	1591	2283	SO:0001819	synonymous_variant	0			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.984C>A	7.37:g.123672074G>T			A4D0X6	Silent	SNP	NULL	p.L328	ENST00000455783.1	37	c.984	CCDS47694.1	7																																																																																			TMEM229A	-	NULL	ENSG00000234224		0.557	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229A	HGNC	protein_coding	OTTHUMT00000336960.3	-	0.00	41	0	G	NM_001136002		123672074	-1	tier1	-	no_errors	ENST00000455783	ensembl	human	known	74_37	silent	58.62	24	34	SNP	0.918	T
TMEM63A	9725	genome.wustl.edu	37	1	226055628	226055628	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:226055628C>T	ENST00000366835.3	-	7	744	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TMEM63A_ENST00000537914.1_5'Flank|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	158					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGATGACACACAGGGACAAAA	0.542																																																	0													179.0	133.0	149.0					1																	226055628		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.474G>A	1.37:g.226055628C>T			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.L158	ENST00000366835.3	37	c.474	CCDS31042.1	1																																																																																			TMEM63A	-	NULL	ENSG00000196187		0.542	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	-	0.00	63	0	C	NM_014698		226055628	-1	tier1	-	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.996	T
TMUB2	79089	genome.wustl.edu	37	17	42266601	42266601	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:42266601C>T	ENST00000587989.1	+	3	400	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	TMUB2_ENST00000319511.6_Missense_Mutation_p.H63Y|TMUB2_ENST00000446571.3_Missense_Mutation_p.H63Y|TMUB2_ENST00000587172.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000590235.1_Missense_Mutation_p.H63Y|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.H63Y|TMUB2_ENST00000589785.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000592825.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000589856.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000538716.2_Missense_Mutation_p.H83Y|ASB16-AS1_ENST00000585457.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	83						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCTGGGGCATGTGGACCA	0.602																																																	0													100.0	94.0	96.0					17																	42266601		2203	4300	6503	SO:0001583	missense	0				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.247C>T	17.37:g.42266601C>T	ENSP00000466971:p.His83Tyr		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.H83Y	ENST00000587989.1	37	c.247	CCDS54134.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375530	0.82682	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.95;0.94;0.95	4.68	4.68	0.58851	.	0.133462	0.52532	D	0.000080	T	0.54159	0.1841	L	0.44542	1.39	0.41778	D	0.989803	D;D;D;D	0.71674	0.99;0.998;0.997;0.967	P;D;D;P	0.66351	0.723;0.943;0.918;0.522	T	0.49588	-0.8924	10	0.31617	T	0.26	.	16.5035	0.84263	0.0:1.0:0.0:0.0	.	63;63;63;83	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	Y	63;63;83;63	ENSP00000413127:H63Y;ENSP00000350672:H63Y;ENSP00000444565:H83Y;ENSP00000313214:H63Y	ENSP00000313214:H63Y	H	+	1	0	TMUB2	39622127	0.613000	0.27009	1.000000	0.80357	0.963000	0.63663	2.880000	0.48530	2.399000	0.81585	0.555000	0.69702	CAT	TMUB2	-	NULL	ENSG00000168591		0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMUB2	HGNC	protein_coding	OTTHUMT00000457711.1		0.00	35	0	C	NM_177441		42266601	+1			no_errors	ENST00000538716	ensembl	human	known	74_37	missense	10.64	41	5	SNP	1.000	T
TNN	63923	genome.wustl.edu	37	1	175067705	175067705	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:175067705A>G	ENST00000239462.4	+	9	2206	c.2093A>G	c.(2092-2094)aAg>aGg	p.K698R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	698	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGGAGAGCAAGAAGGCCGAC	0.587																																																	0													86.0	78.0	81.0					1																	175067705		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2093A>G	1.37:g.175067705A>G	ENSP00000239462:p.Lys698Arg		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.K698R	ENST00000239462.4	37	c.2093	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	A	3.621	-0.077484	0.07184	.	.	ENSG00000120332	ENST00000239462	T	0.04502	3.61	5.15	-1.66	0.08265	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.440594	0.28036	N	0.016853	T	0.06234	0.0161	M	0.66439	2.03	0.26857	N	0.968035	B;B	0.21071	0.051;0.001	B;B	0.30782	0.12;0.03	T	0.43686	-0.9376	10	0.15066	T	0.55	.	9.7575	0.40513	0.4902:0.0:0.5098:0.0	.	698;698	B3KXB6;Q9UQP3	.;TENN_HUMAN	R	698	ENSP00000239462:K698R	ENSP00000239462:K698R	K	+	2	0	TNN	173334328	0.063000	0.20901	0.653000	0.29593	0.443000	0.32047	0.220000	0.17660	-0.465000	0.06953	0.383000	0.25322	AAG	TNN	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0.00	81	0	A	XM_040527		175067705	+1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	59.76	33	49	SNP	0.870	G
TOPBP1	11073	genome.wustl.edu	37	3	133377885	133377885	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:133377885C>A	ENST00000260810.5	-	3	325	c.194G>T	c.(193-195)gGc>gTc	p.G65V	TOPBP1_ENST00000511439.1_5'Flank|TFP1_ENST00000460564.1_RNA	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	65					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAGACAACGCCACTAAAAGG	0.343								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													98.0	87.0	91.0					3																	133377885		1567	3582	5149	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.194G>T	3.37:g.133377885C>A	ENSP00000260810:p.Gly65Val		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.G65V	ENST00000260810.5	37	c.194	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947880	0.73787	.	.	ENSG00000163781	ENST00000260810	T	0.13089	2.62	5.55	5.55	0.83447	BRCT (1);	0.158241	0.56097	D	0.000028	T	0.39835	0.1093	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.19321	-1.0309	10	0.87932	D	0	.	19.5177	0.95171	0.0:1.0:0.0:0.0	.	65	Q92547	TOPB1_HUMAN	V	65	ENSP00000260810:G65V	ENSP00000260810:G65V	G	-	2	0	TOPBP1	134860575	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	4.712000	0.61888	2.605000	0.88082	0.655000	0.94253	GGC	TOPBP1	-	superfamily_BRCT_dom	ENSG00000163781		0.343	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0.00	59	0	C	NM_007027		133377885	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.994	A
TP53	7157	genome.wustl.edu	37	17	7577511	7577512	+	Frame_Shift_Ins	INS	-	-	G	rs28934577		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:7577511_7577512insG	ENST00000269305.4	-	7	958_959	c.769_770insC	c.(769-771)ctgfs	p.L257fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L257fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000574684.1_5'Flank	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	257	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257V(4)|p.L257fs*6(2)|p.L257fs*88(1)|p.?(1)|p.L257fs*7(1)|p.T256fs*87(1)|p.L257R(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)	GGAGTCTTCCAGTGTGATGATG	0.584		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	35	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - Frameshift(1)|Unknown(1)	large_intestine(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|pancreas(3)|upper_aerodigestive_tract(2)|liver(2)|stomach(1)|biliary_tract(1)|kidney(1)|breast(1)|skin(1)	GRCh37	CD941800|CM941332	TP53	D|M	rs28934577																																			SO:0001589	frameshift_variant	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.770dupC	17.37:g.7577512_7577512dupG	ENSP00000269305:p.Leu257fs		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	Frame_Shift_Ins	INS	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.L257fs	ENST00000269305.4	37	c.770_769	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	47	0	-	NM_000546		7577512	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	67.50	13	27	INS	1.000:0.973	G
TP53	7157	genome.wustl.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95.0	81.0	86.0					17																	7577082		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.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys		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.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	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	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	41	0	C	NM_000546		7577082	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T
TRAF5	7188	genome.wustl.edu	37	1	211546148	211546148	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:211546148A>G	ENST00000261464.5	+	0	1832				TRAF5_ENST00000427925.2_3'UTR|TRAF5_ENST00000336184.2_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5						apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GCACATTTGTATTTGCCTTTT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.*104A>G	1.37:g.211546148A>G			B4DIS9|B4E0A2|Q6FHY1	RNA	SNP	-	NULL	ENST00000261464.5	37	NULL	CCDS1497.1	1																																																																																			TRAF5	-	-	ENSG00000082512		0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	-	0.00	8	0	A	NM_004619		211546148	+1	tier1	-	no_errors	ENST00000473385	ensembl	human	known	74_37	rna	35.71	9	5	SNP	0.394	G
TRAK2	66008	genome.wustl.edu	37	2	202254099	202254099	+	Missense_Mutation	SNP	G	G	A	rs368306993		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:202254099G>A	ENST00000332624.3	-	12	1749	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	441	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GACTCAAAAGGTTTTGCTGTC	0.512																																																	0								G	SER/PRO	0,4406		0,0,2203	139.0	134.0	136.0		1321	5.9	1.0	2		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAK2	NM_015049.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	441/915	202254099	1,13005	2203	4300	6503	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1321C>T	2.37:g.202254099G>A	ENSP00000328875:p.Pro441Ser		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.P441S	ENST00000332624.3	37	c.1321	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027378	0.75390	0.0	1.16E-4	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.53423	0.62	5.9	5.9	0.94986	Trafficking kinesin-binding protein domain (1);	0.064020	0.64402	D	0.000006	T	0.67031	0.2850	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61058	-0.7139	10	0.36615	T	0.2	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	441	O60296	TRAK2_HUMAN	S	441;347	ENSP00000328875:P441S	ENSP00000328875:P441S	P	-	1	0	TRAK2	201962344	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.094000	0.76944	2.788000	0.95919	0.650000	0.86243	CCT	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	-	0.00	57	0	G	NM_015049		202254099	-1	tier1	-	no_errors	ENST00000332624	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	A
TRIM64B	642446	genome.wustl.edu	37	11	89607401	89607401	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:89607401T>G	ENST00000329862.6	-	3	550	c.551A>C	c.(550-552)aAg>aCg	p.K184T		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	184						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						TATAGGCATCTTTTGATATTG	0.403																																																	0													11.0	9.0	10.0					11																	89607401		683	1565	2248	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.551A>C	11.37:g.89607401T>G	ENSP00000332969:p.Lys184Thr			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K184T	ENST00000329862.6	37	c.551	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	12.06	1.823399	0.32237	.	.	ENSG00000189253	ENST00000329862	T	0.09445	2.98	2.32	1.13	0.20643	.	.	.	.	.	T	0.23727	0.0574	M	0.88979	2.995	0.09310	N	1	.	.	.	.	.	.	T	0.13229	-1.0517	6	.	.	.	.	4.1473	0.10222	0.0:0.1852:0.0:0.8148	.	.	.	.	T	184	ENSP00000332969:K184T	.	K	-	2	0	TRIM64B	89247049	0.005000	0.15991	0.098000	0.21074	0.067000	0.16453	1.317000	0.33631	0.155000	0.19261	0.321000	0.21382	AAG	TRIM64B	-	NULL	ENSG00000189253		0.403	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	-	0.00	40	0	T			89607401	-1	tier1	-	no_errors	ENST00000329862	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.077	G
TRIM64B	642446	genome.wustl.edu	37	11	89608234	89608234	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:89608234A>C	ENST00000329862.6	-	2	415	c.416T>G	c.(415-417)cTt>cGt	p.L139R		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	139						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						TTCCTTTATAAGTTTCTCCTG	0.308																																																	0													65.0	55.0	58.0					11																	89608234		692	1580	2272	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.416T>G	11.37:g.89608234A>C	ENSP00000332969:p.Leu139Arg			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L139R	ENST00000329862.6	37	c.416	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	7.034	0.561174	0.13498	.	.	ENSG00000189253	ENST00000329862	T	0.62364	0.03	1.73	1.73	0.24493	.	.	.	.	.	T	0.69762	0.3147	M	0.84948	2.725	0.09310	N	1	.	.	.	.	.	.	T	0.61202	-0.7110	6	.	.	.	.	5.5951	0.17323	1.0:0.0:0.0:0.0	.	.	.	.	R	139	ENSP00000332969:L139R	.	L	-	2	0	TRIM64B	89247882	0.002000	0.14202	0.004000	0.12327	0.055000	0.15305	1.781000	0.38644	1.070000	0.40811	0.321000	0.21382	CTT	TRIM64B	-	NULL	ENSG00000189253		0.308	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1		0.00	124	0	A			89608234	-1			no_errors	ENST00000329862	ensembl	human	known	74_37	missense	5.34	124	7	SNP	0.011	C
TSC1	7248	genome.wustl.edu	37	9	135786044	135786044	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:135786044T>A	ENST00000298552.3	-	12	1398	c.1177A>T	c.(1177-1179)Acc>Tcc	p.T393S	TSC1_ENST00000440111.2_Missense_Mutation_p.T393S|TSC1_ENST00000545250.1_Missense_Mutation_p.T342S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	393					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGGAGAGGTTGCTGGGGTT	0.527			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											161.0	174.0	170.0					9																	135786044		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1177A>T	9.37:g.135786044T>A	ENSP00000298552:p.Thr393Ser		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.T393S	ENST00000298552.3	37	c.1177	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689689	0.88735	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000424271	D;D;D	0.89415	-2.51;-2.51;-2.51	5.78	5.78	0.91487	.	0.133339	0.64402	D	0.000002	D	0.92864	0.7730	M	0.70595	2.14	0.80722	D	1	B;P;D;D	0.69078	0.284;0.549;0.997;0.983	B;B;D;P	0.66196	0.26;0.149;0.942;0.833	D	0.91144	0.4948	10	0.22109	T	0.4	-3.8698	15.3024	0.73962	0.0:0.0:0.0:1.0	.	342;393;392;393	B7Z897;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	S	393;393;342;272	ENSP00000298552:T393S;ENSP00000394524:T393S;ENSP00000444017:T342S	ENSP00000298552:T393S	T	-	1	0	TSC1	134775865	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	5.927000	0.70080	2.202000	0.70862	0.523000	0.50628	ACC	TSC1	-	pfam_Hamartin	ENSG00000165699		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1		0.00	45	0	T			135786044	-1			no_errors	ENST00000298552	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	A
TSC22D1	8848	genome.wustl.edu	37	13	45008870	45008870	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:45008870C>T	ENST00000458659.2	-	3	3604	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.Q109Q|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1038					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGCCTGAAACTGGGCAAGCT	0.587																																																	0													39.0	44.0	42.0					13																	45008870		2202	4299	6501	SO:0001819	synonymous_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3114G>A	13.37:g.45008870C>T			B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	pfam_TSC-22_Dip_Bun	p.Q1038	ENST00000458659.2	37	c.3114	CCDS31966.1	13																																																																																			TSC22D1	-	pfam_TSC-22_Dip_Bun	ENSG00000102804		0.587	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2		0.00	54	0	C	NM_006022		45008870	-1			no_errors	ENST00000458659	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
TTC28	23331	genome.wustl.edu	37	22	28395242	28395242	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:28395242A>C	ENST00000397906.2	-	16	4546	c.4405T>G	c.(4405-4407)Tta>Gta	p.L1469V	TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000452612.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1469					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TTCTTCCGTAAGTGAGACTAG	0.637																																																	0													42.0	32.0	35.0					22																	28395242		692	1591	2283	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4405T>G	22.37:g.28395242A>C	ENSP00000381003:p.Leu1469Val		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1469V	ENST00000397906.2	37	c.4405	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	A	2.305	-0.359281	0.05138	.	.	ENSG00000100154	ENST00000397906	D	0.87571	-2.27	5.04	4.03	0.46877	.	0.335642	0.25823	N	0.028068	T	0.77538	0.4145	L	0.41824	1.3	0.24552	N	0.994013	B	0.02656	0.0	B	0.06405	0.002	T	0.59144	-0.7509	10	0.16420	T	0.52	-13.6224	5.5114	0.16882	0.1852:0.1794:0.6354:0.0	.	1469	Q96AY4	TTC28_HUMAN	V	1469	ENSP00000381003:L1469V	ENSP00000381003:L1469V	L	-	1	2	TTC28	26725242	0.968000	0.33430	1.000000	0.80357	0.392000	0.30506	0.887000	0.28254	1.246000	0.43901	-0.366000	0.07423	TTA	TTC28	-	NULL	ENSG00000100154		0.637	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	-	0.00	49	0	A	XM_929318		28395242	-1	tier1	-	no_errors	ENST00000397906	ensembl	human	novel	74_37	missense	32.50	27	13	SNP	1.000	C
TTC28	23331	genome.wustl.edu	37	22	28492265	28492265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:28492265C>A	ENST00000397906.2	-	11	3820	c.3679G>T	c.(3679-3681)Gag>Tag	p.E1227*		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1227					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TTTACCATCTCTAAGATCTGA	0.512																																																	0													167.0	144.0	151.0					22																	28492265		692	1591	2283	SO:0001587	stop_gained	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.3679G>T	22.37:g.28492265C>A	ENSP00000381003:p.Glu1227*		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1227*	ENST00000397906.2	37	c.3679	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	44	10.683702	0.99449	.	.	ENSG00000100154	ENST00000397906	.	.	.	5.49	5.49	0.81192	.	0.065512	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-27.5678	18.3669	0.90394	0.0:1.0:0.0:0.0	.	.	.	.	X	1227	.	ENSP00000381003:E1227X	E	-	1	0	TTC28	26822265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.577000	0.86979	0.655000	0.94253	GAG	TTC28	-	NULL	ENSG00000100154		0.512	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	-	0.00	83	0	C	XM_929318		28492265	-1	tier1	-	no_errors	ENST00000397906	ensembl	human	novel	74_37	nonsense	6.06	62	4	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179433705	179433705	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:179433705A>C	ENST00000591111.1	-	276	72455	c.72231T>G	c.(72229-72231)agT>agG	p.S24077R	TTN_ENST00000342992.6_Missense_Mutation_p.S23150R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25718R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16845R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16778R|TTN_ENST00000460472.2_Missense_Mutation_p.S16653R|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24077	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTGTCCAACTCAGAGAGA	0.433																																																	0													207.0	196.0	200.0					2																	179433705		2002	4177	6179	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72231T>G	2.37:g.179433705A>C	ENSP00000465570:p.Ser24077Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S23150R	ENST00000591111.1	37	c.69450		2	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209355	0.22205	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.74	-3.11	0.05299	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	M	0.69248	2.105	0.41412	D	0.98774	B;B;B;B	0.33777	0.211;0.211;0.211;0.425	B;B;B;B	0.24155	0.051;0.051;0.051;0.051	T	0.39354	-0.9618	9	0.87932	D	0	.	6.8303	0.23907	0.2855:0.0:0.4902:0.2243	.	16653;16778;16845;24077	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	23150;16653;16845;16778;16651	ENSP00000343764:S23150R;ENSP00000434586:S16653R;ENSP00000340554:S16845R;ENSP00000352154:S16778R	ENSP00000340554:S16845R	S	-	3	2	TTN	179141951	0.805000	0.28982	0.990000	0.47175	0.998000	0.95712	0.043000	0.13971	-0.446000	0.07149	0.528000	0.53228	AGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	65	0	A	NM_133378		179433705	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.787	C
TTN	7273	genome.wustl.edu	37	2	179434236	179434236	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:179434236T>G	ENST00000591111.1	-	276	71924	c.71700A>C	c.(71698-71700)gaA>gaC	p.E23900D	TTN_ENST00000342992.6_Missense_Mutation_p.E22973D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E25541D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16668D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16601D|TTN_ENST00000460472.2_Missense_Mutation_p.E16476D|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23900	Ig-like 120.				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)			CCCATTTAACTTCTGGTGTAG	0.403																																																	0													92.0	81.0	84.0					2																	179434236		1889	4129	6018	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71700A>C	2.37:g.179434236T>G	ENSP00000465570:p.Glu23900Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E22973D	ENST00000591111.1	37	c.68919		2	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798366	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.55	4.4	0.53042	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65354	0.2683	L	0.48174	1.505	0.35192	D	0.773436	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.50590	0.645;0.645;0.645;0.552	T	0.75210	-0.3398	9	0.87932	D	0	.	8.2447	0.31682	0.0:0.1493:0.0:0.8507	.	16476;16601;16668;23900	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	22973;16476;16668;16601;16474	ENSP00000343764:E22973D;ENSP00000434586:E16476D;ENSP00000340554:E16668D;ENSP00000352154:E16601D	ENSP00000340554:E16668D	E	-	3	2	TTN	179142482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.683000	0.37638	2.108000	0.64289	0.533000	0.62120	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	35	0	T	NM_133378		179434236	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.39	26	31	SNP	1.000	G
TUSC3	7991	genome.wustl.edu	37	8	15480646	15480646	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:15480646T>C	ENST00000503731.1	+	2	344	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	TUSC3_ENST00000509380.1_Missense_Mutation_p.F66L|TUSC3_ENST00000506802.1_Missense_Mutation_p.F66L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000382020.4_Missense_Mutation_p.F66L	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	66	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACGCTCAATCTTCCGAATGAA	0.388																																																	0													76.0	77.0	77.0					8																	15480646		2203	4300	6503	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.196T>C	8.37:g.15480646T>C	ENSP00000424544:p.Phe66Leu		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.F66L	ENST00000503731.1	37	c.196	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404290	0.42613	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.59	4.3	0.51218	Thioredoxin-like fold (2);	0.201983	0.52532	D	0.000071	T	0.12774	0.0310	N	0.01168	-0.975	0.37345	D	0.910577	B;B;B;B;B;B	0.25850	0.001;0.0;0.0;0.0;0.0;0.136	B;B;B;B;B;B	0.24541	0.0;0.0;0.0;0.0;0.0;0.054	T	0.10683	-1.0619	10	0.39692	T	0.17	-16.6301	8.3631	0.32369	0.331:0.0:0.0:0.669	.	66;66;66;66;66;66	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	L	66	ENSP00000371450:F66L;ENSP00000425777:F66L;ENSP00000423426:F66L;ENSP00000424544:F66L	ENSP00000221167:F66L	F	+	1	0	TUSC3	15525017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.224000	0.42945	2.263000	0.75096	0.528000	0.53228	TTC	TUSC3	-	superfamily_Thioredoxin-like_fold	ENSG00000104723		0.388	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	HGNC	protein_coding	OTTHUMT00000365367.1		0.00	70	0	T	NM_006765		15480646	+1			no_errors	ENST00000503731	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	C
UCKL1	54963	genome.wustl.edu	37	20	62571550	62571550	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:62571550G>A	ENST00000354216.6	-	14	1562	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.A507V|UCKL1_ENST00000369908.5_Missense_Mutation_p.A492V|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTGTCCACCGCCGTGGTGAT	0.602																																																	0													95.0	76.0	82.0					20																	62571550		2200	4299	6499	SO:0001583	missense	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1520C>T	20.37:g.62571550G>A	ENSP00000346155:p.Ala507Val		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.A507V	ENST00000354216.6	37	c.1520	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.436841	0.96168	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.63877	0.919;0.787	T	0.79621	-0.1727	9	0.44086	T	0.13	-35.9962	17.5706	0.87933	0.0:0.0:1.0:0.0	.	492;507	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	V	507;507;492	.	ENSP00000346155:A507V	A	-	2	0	UCKL1	62041994	1.000000	0.71417	0.536000	0.28039	0.929000	0.56500	9.385000	0.97223	2.502000	0.84385	0.655000	0.94253	GCG	UCKL1	-	NULL	ENSG00000198276		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	-	0.00	56	0	G	NM_017859		62571550	-1	tier1	-	no_errors	ENST00000354216	ensembl	human	known	74_37	missense	12.00	43	6	SNP	0.997	A
UFD1L	7353	genome.wustl.edu	37	22	19466593	19466593	+	Intron	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:19466593C>A	ENST00000263202.10	-	1	133				CDC45_ENST00000404724.3_5'Flank|UFD1L_ENST00000360834.4_Intron|CDC45_ENST00000407835.1_5'Flank|UFD1L_ENST00000399523.1_Intron|UFD1L_ENST00000484101.1_5'UTR|CDC45_ENST00000437685.2_5'Flank|CDC45_ENST00000263201.1_5'Flank	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					GCCCGCTGCCCGTCAGCGCTT	0.751																																																	0													10.0	10.0	10.0					22																	19466593		2099	4128	6227	SO:0001627	intron_variant	0			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.3+12G>T	22.37:g.19466593C>A			A8MW31|Q9Y5N0	RNA	SNP	-	NULL	ENST00000263202.10	37	NULL	CCDS13761.1	22																																																																																			UFD1L	-	-	ENSG00000070010		0.751	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	-	0.00	53	0	C			19466593	-1	tier1	-	no_errors	ENST00000484101	ensembl	human	putative	74_37	rna	37.74	33	20	SNP	0.000	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34835247	34835247	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:34835247C>T	ENST00000192788.5	+	17	3743	c.3572C>T	c.(3571-3573)tCa>tTa	p.S1191L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1191L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1191							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGATAGGTCTCAGTTCTGGTC	0.522																																																	0													191.0	191.0	191.0					6																	34835247		2006	4186	6192	SO:0001583	missense	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3572C>T	6.37:g.34835247C>T	ENSP00000192788:p.Ser1191Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.S1191L	ENST00000192788.5	37	c.3572	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457448	0.43634	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.16743	2.32;2.33	5.42	4.53	0.55603	.	0.074778	0.56097	D	0.000030	T	0.08179	0.0204	L	0.41492	1.28	0.48395	D	0.999645	B	0.25390	0.125	B	0.20184	0.028	T	0.04191	-1.0970	10	0.62326	D	0.03	-10.8775	13.3785	0.60754	0.0:0.9229:0.0:0.0771	.	1191	Q6BDS2	URFB1_HUMAN	L	1191	ENSP00000192788:S1191L;ENSP00000400628:S1191L	ENSP00000192788:S1191L	S	+	2	0	UHRF1BP1	34943225	1.000000	0.71417	0.968000	0.41197	0.163000	0.22366	4.432000	0.59922	2.695000	0.91970	0.655000	0.94253	TCA	UHRF1BP1	-	NULL	ENSG00000065060		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	-	0.00	63	0	C	NM_017754		34835247	+1	tier1	-	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	T
UNC119	9094	genome.wustl.edu	37	17	26875686	26875686	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:26875686G>T	ENST00000335765.4	-	2	368	c.258C>A	c.(256-258)atC>atA	p.I86I	UNC119_ENST00000470125.1_5'UTR|UNC119_ENST00000484980.1_5'UTR|UNC119_ENST00000301032.4_Silent_p.I86I	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	86					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TGACAAAGTCGATCTTGTAGA	0.552											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97.0	97.0	97.0					17																	26875686		2203	4300	6503	SO:0001819	synonymous_variant	0			U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.258C>A	17.37:g.26875686G>T		790	A8K8G4|F1T095|O95126	Silent	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.I86	ENST00000335765.4	37	c.258	CCDS11233.1	17																																																																																			UNC119	-	pfam_GMP_PDE_delta,superfamily_Ig_E-set	ENSG00000109103		0.552	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC119	HGNC	protein_coding	OTTHUMT00000255842.2	-	0.00	52	0	G			26875686	-1	tier1	-	no_errors	ENST00000335765	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.236	T
UNC93A	54346	genome.wustl.edu	37	6	167721356	167721356	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:167721356C>A	ENST00000230256.3	+	7	1241	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	UNC93A_ENST00000366829.2_Missense_Mutation_p.L314M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTCTCTGGCCTGTGGGGCGT	0.632																																																	0													120.0	88.0	99.0					6																	167721356		2203	4300	6503	SO:0001583	missense	0			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1066C>A	6.37:g.167721356C>A	ENSP00000230256:p.Leu356Met		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.L356M	ENST00000230256.3	37	c.1066	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970326	0.34754	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;D	0.84442	1.17;-1.85	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.072136	0.56097	D	0.000025	D	0.82440	0.5037	M	0.78801	2.425	0.58432	D	0.999998	P;P	0.44260	0.638;0.83	B;P	0.45681	0.23;0.49	D	0.84171	0.0434	10	0.48119	T	0.1	-20.4559	11.2058	0.48769	0.1836:0.8164:0.0:0.0	.	314;356	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	356;314	ENSP00000230256:L356M;ENSP00000355794:L314M	ENSP00000230256:L356M	L	+	1	2	UNC93A	167641346	1.000000	0.71417	0.847000	0.33407	0.020000	0.10135	2.185000	0.42584	2.081000	0.62600	0.563000	0.77884	CTG	UNC93A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.632	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2		0.00	33	0	C	NM_018974		167721356	+1			no_errors	ENST00000230256	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12322114	12322114	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:12322114C>T	ENST00000358136.3	+	13	1701	c.1571C>T	c.(1570-1572)gCt>gTt	p.A524V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A524V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATGAAAGTGCTTTCATGCAG	0.468																																																	0													85.0	70.0	75.0					1																	12322114		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1571C>T	1.37:g.12322114C>T	ENSP00000350854:p.Ala524Val			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A524V	ENST00000358136.3	37	c.1571	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196248	0.78902	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	.	0.247400	0.38959	N	0.001515	T	0.40645	0.1125	L	0.36672	1.1	0.80722	D	1	P;P	0.45827	0.867;0.791	B;B	0.39027	0.288;0.15	T	0.19647	-1.0299	10	0.31617	T	0.26	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	524;524	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	524	ENSP00000348666:A524V;ENSP00000350854:A524V	ENSP00000348666:A524V	A	+	2	0	VPS13D	12244701	1.000000	0.71417	0.633000	0.29310	0.983000	0.72400	5.737000	0.68606	2.680000	0.91292	0.655000	0.94253	GCT	VPS13D	-	NULL	ENSG00000048707		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0.00	60	0	C	NM_015378		12322114	+1			no_errors	ENST00000358136	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.998	T
WDR35	57539	genome.wustl.edu	37	2	20147936	20147936	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:20147936T>A	ENST00000345530.3	-	15	1661	c.1546A>T	c.(1546-1548)Ata>Tta	p.I516L	WDR35_ENST00000281405.4_Missense_Mutation_p.I505L|WDR35_ENST00000416055.2_Missense_Mutation_p.I81L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	516					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAATCAATATCTTATCTGAT	0.299																																																	0													41.0	41.0	41.0					2																	20147936		2203	4300	6503	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1546A>T	2.37:g.20147936T>A	ENSP00000314444:p.Ile516Leu		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I516L	ENST00000345530.3	37	c.1546	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	T	7.059	0.566068	0.13560	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;T	0.63255	0.17;0.17;-0.03;-0.03	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.285881	0.38959	N	0.001510	T	0.23094	0.0558	N	0.00347	-1.61	0.28836	N	0.896849	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.19128	-1.0315	10	0.11485	T	0.65	-1.8717	8.8206	0.35023	0.0:0.084:0.0:0.916	.	516;505;516;81	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	L	516;505;81;51	ENSP00000314444:I516L;ENSP00000281405:I505L;ENSP00000399159:I81L;ENSP00000404409:I51L	ENSP00000281405:I505L	I	-	1	0	WDR35	20011417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.444000	0.66587	1.959000	0.56917	0.533000	0.62120	ATA	WDR35	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p35	ENSG00000118965		0.299	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	-	0.00	95	0	T	NM_020779		20147936	-1	tier1	-	no_errors	ENST00000345530	ensembl	human	known	74_37	missense	38.75	49	31	SNP	1.000	A
WDR70	55100	genome.wustl.edu	37	5	37381711	37381711	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:37381711A>T	ENST00000265107.4	+	3	255	c.99A>T	c.(97-99)aaA>aaT	p.K33N	WDR70_ENST00000504564.1_Missense_Mutation_p.K33N	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	33							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGTAAAAAAGCTCGCACAT	0.383																																																	0													112.0	120.0	117.0					5																	37381711		2203	4300	6503	SO:0001583	missense	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.99A>T	5.37:g.37381711A>T	ENSP00000265107:p.Lys33Asn		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K33N	ENST00000265107.4	37	c.99	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539645	0.65085	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.89681	-0.58;-2.55	3.78	2.6	0.31112	.	0.000000	0.85682	U	0.000000	D	0.92140	0.7508	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90215	0.4267	10	0.87932	D	0	-0.5527	6.7171	0.23310	0.7052:0.0:0.2948:0.0	.	33;33	D6RIW8;Q9NW82	.;WDR70_HUMAN	N	33	ENSP00000265107:K33N;ENSP00000425841:K33N	ENSP00000265107:K33N	K	+	3	2	WDR70	37417468	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.020000	0.41010	0.462000	0.27095	0.455000	0.32223	AAA	WDR70	-	NULL	ENSG00000082068		0.383	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	-	0.00	90	0	A	NM_018034		37381711	+1	tier1	-	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	9.48	191	20	SNP	1.000	T
WNK2	65268	genome.wustl.edu	37	9	96080159	96080159	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:96080159C>T	ENST00000297954.4	+	30	6744	c.6744C>T	c.(6742-6744)ggC>ggT	p.G2248G	WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2248					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCAGATGGCGCCCTCGGAA	0.692																																																	0													12.0	12.0	12.0					9																	96080159		873	1990	2863	SO:0001819	synonymous_variant	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6744C>T	9.37:g.96080159C>T			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G2248	ENST00000297954.4	37	c.6744		9																																																																																			WNK2	-	NULL	ENSG00000165238		0.692	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0.00	53	0	C	NM_006648		96080159	+1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	silent	96.36	2	53	SNP	0.000	T
WRNIP1	56897	genome.wustl.edu	37	6	2779582	2779582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:2779582C>T	ENST00000380773.4	+	4	1551	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	WRNIP1_ENST00000380771.4_Nonsense_Mutation_p.Q423*|WRNIP1_ENST00000380764.1_Nonsense_Mutation_p.Q64*|WRNIP1_ENST00000380769.4_Nonsense_Mutation_p.Q228*	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GAACGGACTGCAGCTGGCGGT	0.522																																																	0													107.0	98.0	101.0					6																	2779582		2203	4300	6503	SO:0001587	stop_gained	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1342C>T	6.37:g.2779582C>T	ENSP00000370150:p.Gln448*			Nonsense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.Q448*	ENST00000380773.4	37	c.1342	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.660151	0.98903	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	.	.	.	5.7	5.7	0.88788	.	0.053362	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4402	18.8243	0.92111	0.0:1.0:0.0:0.0	.	.	.	.	X	448;423;228;64	.	ENSP00000370141:Q64X	Q	+	1	0	WRNIP1	2724581	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.439000	0.80444	2.684000	0.91462	0.585000	0.79938	CAG	WRNIP1	-	superfamily_P-loop_NTPase	ENSG00000124535		0.522	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	-	0.00	72	0	C	NM_130395		2779582	+1	tier1	-	no_errors	ENST00000380773	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	T
WSCD1	23302	genome.wustl.edu	37	17	6021339	6021339	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:6021339C>T	ENST00000574946.1	+	8	1596	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	WSCD1_ENST00000574232.1_Silent_p.S402S|WSCD1_ENST00000573634.1_Silent_p.S286S|WSCD1_ENST00000539421.1_Silent_p.S402S|WSCD1_ENST00000317744.5_Silent_p.S402S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTGGCGGAGCCGACGCACCA	0.557																																																	0													92.0	88.0	89.0					17																	6021339		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1206C>T	17.37:g.6021339C>T			A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.S402	ENST00000574946.1	37	c.1206	CCDS32538.1	17																																																																																			WSCD1	-	superfamily_P-loop_NTPase	ENSG00000179314		0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4		0.00	55	0	C	NM_015253		6021339	+1			no_errors	ENST00000317744	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T
ZBTB42	100128927	genome.wustl.edu	37	14	105268139	105268139	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105268139A>T	ENST00000342537.7	+	1	890	c.605A>T	c.(604-606)cAc>cTc	p.H202L	ZBTB42_ENST00000555360.1_Missense_Mutation_p.H202L	NM_001137601.1	NP_001131073.1	B2RXF5	ZBT42_HUMAN	zinc finger and BTB domain containing 42	202	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAGCGGGTCCACCCACCGTGC	0.662																																																	0													24.0	31.0	29.0					14																	105268139		692	1587	2279	SO:0001583	missense	0			AX721091	CCDS45174.1	14q32.33	2013-01-09				ENSG00000179627		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	32550	protein-coding gene	gene with protein product		613915					Standard	NM_001137601		Approved	ZNF925	uc001ypp.3	B2RXF5		ENST00000342537.7:c.605A>T	14.37:g.105268139A>T	ENSP00000409107:p.His202Leu		B7ZW21	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H202L	ENST00000342537.7	37	c.605	CCDS45174.1	14	.	.	.	.	.	.	.	.	.	.	A	4.898	0.166947	0.09339	.	.	ENSG00000179627	ENST00000555360;ENST00000342537	T;T	0.12879	2.64;2.64	3.53	-1.92	0.07618	.	.	.	.	.	T	0.07638	0.0192	L	0.29908	0.895	0.38103	D	0.93733	B	0.06786	0.001	B	0.06405	0.002	T	0.28004	-1.0057	9	0.28530	T	0.3	.	4.4176	0.11465	0.657:0.0:0.2015:0.1415	.	202	B2RXF5	ZBT42_HUMAN	L	202	ENSP00000450673:H202L;ENSP00000409107:H202L	ENSP00000409107:H202L	H	+	2	0	ZBTB42	104339184	0.984000	0.35163	0.009000	0.14445	0.653000	0.38743	0.836000	0.27545	-0.500000	0.06614	0.379000	0.24179	CAC	ZBTB42	-	NULL	ENSG00000179627		0.662	ZBTB42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB42	HGNC	protein_coding	OTTHUMT00000410372.1	-	0.00	35	0	A			105268139	+1	tier1	-	no_errors	ENST00000342537	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.997	T
ZDBF2	57683	genome.wustl.edu	37	2	207169788	207169789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:207169788_207169789insC	ENST00000374423.3	+	5	922_923	c.536_537insC	c.(535-540)cgccccfs	p.RP179fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	179							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTTGGTACGCCCCCCAGTGA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.542dupC	2.37:g.207169794_207169794dupC	ENSP00000363545:p.Arg179fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Ins	INS	pfam_Znf_DBF,smart_Znf_DBF	p.V182fs	ENST00000374423.3	37	c.536_537	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.426	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0.00	58	0	-	NM_020923		207169789	+1	tier1		no_errors	ENST00000374423	ensembl	human	known	74_37	frame_shift_ins	50.88	28	29	INS	0.000:0.000	C
ZDHHC19	131540	genome.wustl.edu	37	3	195934293	195934293	+	Silent	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:195934293C>T	ENST00000296326.3	-	5	742	c.663G>A	c.(661-663)tcG>tcA	p.S221S	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	221						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TGCGGTCGGCCGAGCTCACGG	0.701																																																	0													13.0	19.0	17.0					3																	195934293		2116	4190	6306	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.663G>A	3.37:g.195934293C>T			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S221	ENST00000296326.3	37	c.663	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.701	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0.00	47	0	C	NM_144637		195934293	-1	tier1	-	no_errors	ENST00000296326	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.962	T
ZGPAT	84619	genome.wustl.edu	37	20	62365093	62365093	+	Splice_Site	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:62365093T>C	ENST00000328969.5	+	4	998		c.e4+2		ZGPAT_ENST00000357119.4_Intron|ZGPAT_ENST00000355969.6_Splice_Site|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Splice_Site|ZGPAT_ENST00000448100.2_Splice_Site|RP4-583P15.15_ENST00000490623.2_Splice_Site|ZGPAT_ENST00000478385.1_Splice_Site	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATGCCAGAGGTATGGCAGCAG	0.642																																																	0													44.0	46.0	45.0					20																	62365093		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.871+2T>C	20.37:g.62365093T>C			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Splice_Site	SNP	-	e3+2	ENST00000328969.5	37	c.871+2	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212082	0.58452	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000369967;ENST00000328969	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4421	0.67325	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZGPAT	61835537	1.000000	0.71417	0.992000	0.48379	0.564000	0.35744	6.840000	0.75369	2.155000	0.67459	0.482000	0.46254	.	ZGPAT	-	-	ENSG00000197114		0.642	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	-	0.00	69	0	T	NM_181484	Intron	62365093	+1	tier1	-	no_errors	ENST00000328969	ensembl	human	known	74_37	splice_site	15.79	48	9	SNP	1.000	C
ZNF260	339324	genome.wustl.edu	37	19	37005915	37005915	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:37005915T>G	ENST00000523638.1	-	3	1347	c.226A>C	c.(226-228)Agt>Cgt	p.S76R	ZNF260_ENST00000588993.1_Missense_Mutation_p.S76R|ZNF260_ENST00000592282.1_Missense_Mutation_p.S76R|ZNF260_ENST00000593142.1_Missense_Mutation_p.S76R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	76					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CCTGTGTGACTTCTAAGGTGT	0.393																																																	0													135.0	125.0	129.0					19																	37005915		2203	4300	6503	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.226A>C	19.37:g.37005915T>G	ENSP00000429803:p.Ser76Arg		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S76R	ENST00000523638.1	37	c.226	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	T	8.318	0.823636	0.16678	.	.	ENSG00000254004	ENST00000523638	T	0.00976	5.48	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01124	0.0037	L	0.33485	1.01	0.31253	N	0.693768	P	0.34462	0.454	B	0.34722	0.188	T	0.30534	-0.9975	9	0.87932	D	0	.	8.8596	0.35249	0.1679:0.0:0.0:0.8321	.	76	Q3ZCT1	ZN260_HUMAN	R	76	ENSP00000429803:S76R	ENSP00000429803:S76R	S	-	1	0	ZNF260	41697755	0.003000	0.15002	0.976000	0.42696	0.004000	0.04260	1.094000	0.30951	1.941000	0.56285	0.454000	0.30748	AGT	ZNF260	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.393	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2		0.00	40	0	T	NM_001012756		37005915	-1			no_errors	ENST00000523638	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.989	G
ZNF561	93134	genome.wustl.edu	37	19	9721259	9721259	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9721259T>C	ENST00000302851.3	-	6	1441	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.S291G|ZNF561_ENST00000354661.4_Missense_Mutation_p.S224G	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTCTTTCCACTGTGACTTCGT	0.423																																																	0													129.0	120.0	123.0					19																	9721259		2203	4300	6503	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1078A>G	19.37:g.9721259T>C	ENSP00000303915:p.Ser360Gly		B4E2Q8|Q6PJS0	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.S360G	ENST00000302851.3	37	c.1078	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001204	0.35320	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.19669	2.13;2.13;2.13	1.1	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	M	0.64260	1.97	0.23563	N	0.997408	B	0.26935	0.164	B	0.31686	0.134	T	0.31223	-0.9951	9	0.87932	D	0	.	6.3586	0.21414	0.0:0.0:0.0:1.0	.	360	Q8N587	ZN561_HUMAN	G	291;360;224	ENSP00000393074:S291G;ENSP00000303915:S360G;ENSP00000346687:S224G	ENSP00000303915:S360G	S	-	1	0	ZNF561	9582259	0.892000	0.30473	0.006000	0.13384	0.117000	0.20001	1.244000	0.32778	0.753000	0.32945	0.248000	0.18094	AGT	ZNF561	-	pfscan_Znf_C2H2	ENSG00000171469		0.423	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0.00	83	0	T	NM_152289		9721259	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	82.56	15	71	SNP	0.999	C
ZNF562	54811	genome.wustl.edu	37	19	9763995	9763995	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9763995T>G	ENST00000448622.1	-	6	1073	c.911A>C	c.(910-912)aAt>aCt	p.N304T	ZNF562_ENST00000293648.4_Missense_Mutation_p.N232T|ZNF562_ENST00000541032.1_Missense_Mutation_p.N267T|ZNF562_ENST00000453792.2_Missense_Mutation_p.N235T|ZNF562_ENST00000590155.1_Missense_Mutation_p.N303T|ZNF562_ENST00000453372.2_Missense_Mutation_p.N304T|ZNF562_ENST00000537617.1_Missense_Mutation_p.N188T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AATGTGAACATTAAAGGATGA	0.353																																																	0													93.0	91.0	92.0					19																	9763995		2203	4298	6501	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.911A>C	19.37:g.9763995T>G	ENSP00000411784:p.Asn304Thr		Q32MN2|Q9NXS5	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.N304T	ENST00000448622.1	37	c.911	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	T	0.125	-1.120086	0.01785	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.72	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10981	0.0268	N	0.02368	-0.58	0.09310	N	1	D;D;D;B;D	0.67145	0.989;0.991;0.995;0.241;0.996	D;D;P;B;D	0.76071	0.979;0.982;0.887;0.096;0.987	T	0.14420	-1.0473	9	0.02654	T	1	.	4.9417	0.13969	0.0:0.1788:0.0:0.8212	.	188;303;267;304;232	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	T	304;304;232;267;235;188	ENSP00000410734:N304T;ENSP00000411784:N304T;ENSP00000293648:N232T;ENSP00000442614:N267T;ENSP00000440451:N235T;ENSP00000445816:N188T	ENSP00000293648:N232T	N	-	2	0	ZNF562	9624995	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.490000	0.02304	0.156000	0.19299	0.254000	0.18369	AAT	ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.353	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0.00	132	0	T	NM_017656		9763995	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	25.00	105	35	SNP	0.005	G
ZNF599	148103	genome.wustl.edu	37	19	35258288	35258288	+	Silent	SNP	G	G	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:35258288G>T	ENST00000329285.8	-	3	547	c.174C>A	c.(172-174)atC>atA	p.I58I	ZNF599_ENST00000588760.1_Silent_p.I58I|ZNF599_ENST00000587354.2_Silent_p.I58I	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCAGTAGATAGATCAGCTCTG	0.502																																																	0													106.0	87.0	94.0					19																	35258288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.174C>A	19.37:g.35258288G>T			Q569K0|Q5PRG1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I58	ENST00000329285.8	37	c.174	CCDS32991.1	19																																																																																			ZNF599	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000153896		0.502	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0.00	39	0	G	XM_086046		35258288	-1	tier1	-	no_errors	ENST00000329285	ensembl	human	known	74_37	silent	36.17	30	17	SNP	0.120	T
ZNF585B	92285	genome.wustl.edu	37	19	37676375	37676375	+	Silent	SNP	T	T	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:37676375T>C	ENST00000532828.2	-	5	2315	c.2064A>G	c.(2062-2064)aaA>aaG	p.K688K	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Silent_p.K276K|ZNF585B_ENST00000531805.1_Silent_p.K633K|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCATAAGGTTTCTCTCCAG	0.443																																					Melanoma(93;882 1454 18863 28917 48427)												0													38.0	38.0	38.0					19																	37676375		2202	4280	6482	SO:0001819	synonymous_variant	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2064A>G	19.37:g.37676375T>C			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K688	ENST00000532828.2	37	c.2064	CCDS12500.1	19																																																																																			ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.443	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0.00	63	0	T	NM_152279		37676375	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	silent	82.76	10	48	SNP	0.999	C
ZNF525	170958	genome.wustl.edu	37	19	53884868	53884868	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:53884868C>T	ENST00000355326.3	+	1	190	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R346C|ZNF525_ENST00000467003.1_Missense_Mutation_p.R310C			Q8N782	ZN525_HUMAN	zinc finger protein 525	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TGCATGCCATCGTAGCATTCA	0.393																																																	0																																										SO:0001583	missense	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.190C>T	19.37:g.53884868C>T	ENSP00000408929:p.Arg64Cys		Q8TF23	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R64C	ENST00000355326.3	37	c.190		19	.	.	.	.	.	.	.	.	.	.	C	8.103	0.777194	0.16120	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.18502	2.21;2.21;3.17	1.63	0.404	0.16355	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	.	.	.	0.28549	N	0.911719	B	0.23442	0.085	B	0.19666	0.026	T	0.26503	-1.0101	8	0.87932	D	0	.	3.5888	0.07981	0.2472:0.5909:0.0:0.1619	.	64	Q8N782	ZN525_HUMAN	C	346;310;64	ENSP00000417696:R346C;ENSP00000419136:R310C;ENSP00000408929:R64C	ENSP00000408929:R64C	R	+	1	0	ZNF525	58576680	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-1.273000	0.02823	0.003000	0.14656	0.298000	0.19748	CGT	ZNF525	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000203326		0.393	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		-	0.00	96	0	C	NR_003699		53884868	+1	tier1	-	no_errors	ENST00000355326	ensembl	human	known	74_37	missense	46.91	43	38	SNP	0.760	T
ZNF331	55422	genome.wustl.edu	37	19	54080368	54080368	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:54080368A>C	ENST00000253144.9	+	7	1887	c.554A>C	c.(553-555)aAg>aCg	p.K185T	ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.K185T|ZNF331_ENST00000513999.1_Missense_Mutation_p.K185T|ZNF331_ENST00000449416.1_Missense_Mutation_p.K185T|ZNF331_ENST00000411977.2_Missense_Mutation_p.K185T|ZNF331_ENST00000511154.1_Missense_Mutation_p.K185T|ZNF331_ENST00000512387.1_Missense_Mutation_p.K185T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACTGGGGAGAAGCCCTACGAA	0.413			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													73.0	80.0	78.0					19																	54080368		2203	4300	6503	SO:0001583	missense	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.554A>C	19.37:g.54080368A>C	ENSP00000253144:p.Lys185Thr		Q96GJ4	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.K185T	ENST00000253144.9	37	c.554	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825643	0.71143	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	3.68	3.68	0.42216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36482	N	0.002562	T	0.49966	0.1588	M	0.80982	2.52	0.33641	D	0.607269	D	0.76494	0.999	D	0.83275	0.996	T	0.66480	-0.5913	10	0.87932	D	0	.	10.5691	0.45190	1.0:0.0:0.0:0.0	.	185	Q9NQX6	ZN331_HUMAN	T	185	ENSP00000253144:K185T;ENSP00000427439:K185T;ENSP00000393817:K185T;ENSP00000393336:K185T;ENSP00000421014:K185T;ENSP00000423156:K185T;ENSP00000421728:K185T	ENSP00000253144:K185T	K	+	2	0	ZNF331	58772180	0.228000	0.23718	0.906000	0.35671	0.847000	0.48162	0.799000	0.27028	1.665000	0.50811	0.460000	0.39030	AAG	ZNF331	-	pfscan_Znf_C2H2	ENSG00000130844		0.413	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	-	0.00	43	0	A	NM_018555		54080368	+1	tier1	-	no_errors	ENST00000253144	ensembl	human	known	74_37	missense	86.54	7	45	SNP	1.000	C
ZNF619	285267	genome.wustl.edu	37	3	40528735	40528735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:40528735C>A	ENST00000314686.5	+	6	1091	c.686C>A	c.(685-687)tCa>tAa	p.S229*	ZNF619_ENST00000429348.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.S236*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.S285*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.S201*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.S285*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S229*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGATATAACTCAAAACTGTCA	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											60.0	61.0	61.0					3																	40528735		2203	4300	6503	SO:0001587	stop_gained	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.686C>A	3.37:g.40528735C>A	ENSP00000322529:p.Ser229*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S285*	ENST00000314686.5	37	c.854		3	.	.	.	.	.	.	.	.	.	.	C	36	5.611296	0.96637	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0164	0.47691	0.0:1.0:0.0:0.0	.	.	.	.	X	229;285;245;201;236;285;245	.	ENSP00000322529:S229X	S	+	2	0	ZNF619	40503739	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	0.397000	0.20883	1.499000	0.48617	0.563000	0.77884	TCA	ZNF619	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.428	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2		0.00	31	0	C	NM_173656		40528735	+1			no_errors	ENST00000447116	ensembl	human	known	74_37	nonsense	16.67	14	3	SNP	0.009	A
ZNF678	339500	genome.wustl.edu	37	1	227838738	227838738	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:227838738G>C	ENST00000343776.5	+	3	391	c.46G>C	c.(46-48)Gca>Cca	p.A16P	ZNF678_ENST00000608949.1_Missense_Mutation_p.A16P|ZNF678_ENST00000397097.3_Intron|ZNF678_ENST00000465266.1_3'UTR	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				atttgaaggagcaaacacctc	0.383																																																	0													144.0	157.0	153.0					1																	227838738		2203	4300	6503	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.46G>C	1.37:g.227838738G>C	ENSP00000344828:p.Ala16Pro		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A16P	ENST00000343776.5	37	c.46		1	.	.	.	.	.	.	.	.	.	.	G	1.063	-0.672422	0.03403	.	.	ENSG00000181450	ENST00000343776	T	0.06687	3.27	0.499	-0.851	0.10716	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.09310	N	1	P	0.50819	0.939	B	0.33454	0.164	T	0.40232	-0.9574	7	0.35671	T	0.21	.	.	.	.	.	16	Q5SXM1	ZN678_HUMAN	P	16	ENSP00000344828:A16P	ENSP00000344828:A16P	A	+	1	0	ZNF678	225905361	0.014000	0.17966	0.031000	0.17742	0.028000	0.11728	-0.312000	0.08113	-0.423000	0.07394	-0.426000	0.05927	GCA	ZNF678	-	NULL	ENSG00000181450		0.383	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0.00	29	0	G	NM_178549		227838738	+1	tier1	-	no_errors	ENST00000343776	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.047	C
ZNF730	100129543	genome.wustl.edu	37	19	23328839	23328839	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:23328839A>C	ENST00000597761.2	+	4	1192	c.993A>C	c.(991-993)aaA>aaC	p.K331N		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CAAAACATAAAAGAATTCATA	0.348																																																	0																																										SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.993A>C	19.37:g.23328839A>C	ENSP00000472959:p.Lys331Asn			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.K331N	ENST00000597761.2	37	c.993	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780303	0.31502	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.916	-1.83	0.07833	.	.	.	.	.	T	0.31827	0.0809	L	0.33293	1	0.22500	N	0.99904	.	.	.	.	.	.	T	0.33574	-0.9863	6	0.62326	D	0.03	.	5.5625	0.17152	0.4262:0.0:0.5738:0.0	.	.	.	.	N	331	.	ENSP00000329365:K331N	K	+	3	2	ZNF730	23120679	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.553000	0.23391	-0.759000	0.04684	-0.756000	0.03474	AAA	ZNF730	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183850		0.348	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	-	0.00	58	0	A	XM_001719792		23328839	+1	tier1	-	no_errors	ENST00000597761	ensembl	human	known	74_37	missense	88.00	6	44	SNP	0.709	C
ZNF833P	401898	genome.wustl.edu	37	19	11796889	11796889	+	lincRNA	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:11796889C>T	ENST00000344893.3	+	0	2888					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GGGTATGACACACTGGTGACC	0.363																																																	0																																												0			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796889C>T			B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-	ENSG00000197332		0.363	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	-	0.00	39	0	C	NM_001013691		11796889	+1	tier1	-	no_errors	ENST00000344893	ensembl	human	known	74_37	rna	72.73	6	16	SNP	1.000	T
ZNF844	284391	genome.wustl.edu	37	19	12186947	12186947	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:12186947G>C	ENST00000439326.3	+	4	1187	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCCTGTGAATGTAAACA	0.378																																																	0													85.0	82.0	83.0					19																	12186947		692	1591	2283	SO:0001583	missense	0			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1012G>C	19.37:g.12186947G>C	ENSP00000392024:p.Glu338Gln		Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E338Q	ENST00000439326.3	37	c.1012	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957670	0.34565	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.15603	2.41	2.5	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	L	0.33624	1.015	0.09310	N	1	P	0.47191	0.891	P	0.48770	0.589	T	0.14615	-1.0466	9	0.62326	D	0.03	.	2.4394	0.04490	0.2864:0.0:0.4766:0.237	.	338	Q08AG5	ZN844_HUMAN	Q	338;338;313	ENSP00000392024:E338Q	ENSP00000392024:E338Q	E	+	1	0	ZNF844	12047947	0.000000	0.05858	0.090000	0.20809	0.170000	0.22686	-3.809000	0.00361	0.359000	0.24239	0.205000	0.17691	GAA	ZNF844	-	smart_Znf_C2H2-like	ENSG00000223547		0.378	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	-	0.00	41	0	G			12186947	+1	tier1	-	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.010	C
ZNF765	91661	genome.wustl.edu	37	19	53926630	53926630	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:53926630C>T	ENST00000594030.1	+	0	552				ZNF765_ENST00000596086.1_3'UTR			Q7L2R6	ZN765_HUMAN	zinc finger protein 765						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGGGCTCATGCTCTGGGGCAG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000594030.1:c.*275C>T	19.37:g.53926630C>T			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	RNA	SNP	-	NULL	ENST00000594030.1	37	NULL		19																																																																																			ZNF765	-	-	ENSG00000196417		0.602	ZNF765-009	PUTATIVE	basic	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000464547.1	-	0.00	11	0	C	NM_138372		53926630	+1	tier1	-	no_errors	ENST00000594627	ensembl	human	known	74_37	rna	50.00	3	3	SNP	0.082	T
