#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu	37	10	64957252	64957253	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957252_64957253insA	ENST00000399262.2	-	13	5780_5781	c.5562_5563insT	c.(5560-5565)tttaacfs	p.N1855fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.N1673fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.N1636fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1855					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGTGAATGTTAAACAATGTTG	0.381																																						.											0																																										SO:0001589	frameshift_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Asn1855fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.381	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
CYP2E1	1571	hgsc.bcm.edu	37	10	135346309	135346309	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346309T>C	ENST00000463117.2	+	7	1034	c.762T>C	c.(760-762)caT>caC	p.H254H	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.H254H			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	254					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAGCACCATCAATCTCTGG	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													.											0													88.0	87.0	87.0					10																	135346309		2203	4300	6503	SO:0001819	synonymous_variant	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.762T>C	10.37:g.135346309T>C			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	CCDS7686.1																																																																																				0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
WNT2B	7482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	113062943	113062943	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:113062943A>G	ENST00000369684.4	+	5	1473	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	WNT2B_ENST00000256640.5_Missense_Mutation_p.K238E|WNT2B_ENST00000369686.5_Missense_Mutation_p.K311E|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	330					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGACATCAAAAGGAACAGA	0.537																																						.											0													137.0	105.0	116.0					1																	113062943		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.988A>G	1.37:g.113062943A>G	ENSP00000358698:p.Lys330Glu		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.041024	0.19669	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75477	-0.94;-0.94;-0.94	5.57	4.47	0.54385	.	0.054833	0.64402	D	0.000001	T	0.33990	0.0882	L	0.31804	0.96	0.30339	N	0.785926	B;P	0.39940	0.066;0.696	B;B	0.32624	0.099;0.149	T	0.39418	-0.9615	10	0.05620	T	0.96	.	11.4493	0.50142	0.7642:0.2358:0.0:0.0	.	330;311	Q93097;Q93097-2	WNT2B_HUMAN;.	E	238;311;330	ENSP00000256640:K238E;ENSP00000358700:K311E;ENSP00000358698:K330E	ENSP00000256640:K238E	K	+	1	0	WNT2B	112864466	0.981000	0.34729	0.999000	0.59377	0.995000	0.86356	2.699000	0.47077	2.102000	0.63906	0.533000	0.62120	AAA		0.537	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185	
KIRREL	55243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	158056511	158056511	+	Silent	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158056511G>A	ENST00000359209.6	+	5	703	c.636G>A	c.(634-636)gaG>gaA	p.E212E	KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000368172.1_Silent_p.E10E|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Silent_p.E212E|KIRREL_ENST00000416935.2_Silent_p.E112E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	212	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTGGCAAGGAGACTTCCATCG	0.567																																						.											0													116.0	93.0	100.0					1																	158056511		692	1591	2283	SO:0001819	synonymous_variant	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.636G>A	1.37:g.158056511G>A			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	CCDS1172.2																																																																																				0.567	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	
OR6N2	81442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	158746533	158746533	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:158746533A>G	ENST00000339258.1	-	1	892	c.893T>C	c.(892-894)aTt>aCt	p.I298T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GATAGCTTTAATGATTTCCTT	0.408																																						.											0													169.0	161.0	164.0					1																	158746533		2203	4300	6503	SO:0001583	missense	81442			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.893T>C	1.37:g.158746533A>G	ENSP00000344101:p.Ile298Thr		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	4.818	0.152112	0.09185	.	.	ENSG00000188340	ENST00000339258	T	0.37058	1.22	4.64	4.64	0.57946	.	.	.	.	.	T	0.08670	0.0215	N	0.10916	0.065	0.27967	N	0.936542	B	0.25007	0.116	B	0.21546	0.035	T	0.14227	-1.0480	9	0.72032	D	0.01	-8.8046	7.5695	0.27898	0.8098:0.0:0.0:0.1902	.	298	Q8NGY6	OR6N2_HUMAN	T	298	ENSP00000344101:I298T	ENSP00000344101:I298T	I	-	2	0	OR6N2	157013157	0.942000	0.31987	1.000000	0.80357	0.176000	0.22953	1.575000	0.36493	1.928000	0.55862	0.528000	0.53228	ATT		0.408	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
MON2	23041	hgsc.bcm.edu;mdanderson.org	37	12	62954344	62954344	+	Silent	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:62954344A>T	ENST00000393632.2	+	26	3874	c.3483A>T	c.(3481-3483)gtA>gtT	p.V1161V	MON2_ENST00000393630.3_Silent_p.V1162V|MON2_ENST00000552738.1_Silent_p.V1138V|MON2_ENST00000393629.2_Silent_p.V1161V|MON2_ENST00000546600.1_Silent_p.V1161V|MON2_ENST00000280379.6_Silent_p.V1162V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1161					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAATGAAGTATCTCTGGCTG	0.403																																						.											0													75.0	78.0	77.0					12																	62954344		2203	4300	6503	SO:0001819	synonymous_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3483A>T	12.37:g.62954344A>T			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	CCDS31849.1																																																																																				0.403	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
KRR1	11103	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	75895756	75895756	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:75895756C>T	ENST00000229214.4	-	8	879	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	KRR1_ENST00000438169.2_Missense_Mutation_p.E229K|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	286	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAAAAGTATTCACCACTAGCC	0.368																																						.											0													172.0	162.0	165.0					12																	75895756		2203	4300	6503	SO:0001583	missense	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.856G>A	12.37:g.75895756C>T	ENSP00000229214:p.Glu286Lys		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.59364	0.27;1.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.84343	0.0528	10	0.87932	D	0	-0.1297	19.5833	0.95478	0.0:1.0:0.0:0.0	.	229;286	E7EUQ0;Q13601	.;KRR1_HUMAN	K	286;229	ENSP00000229214:E286K;ENSP00000411740:E229K	ENSP00000229214:E286K	E	-	1	0	KRR1	74182023	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.517000	0.73759	2.612000	0.88384	0.655000	0.94253	GAA		0.368	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043	
CCDC62	84660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	123282632	123282632	+	Splice_Site	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:123282632A>T	ENST00000253079.6	+	8	1206	c.862A>T	c.(862-864)Att>Ttt	p.I288F	CCDC62_ENST00000392441.4_Splice_Site_p.I288F|CCDC62_ENST00000392440.2_Splice_Site_p.I49F|CCDC62_ENST00000537566.1_Splice_Site_p.I49F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	288					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCTATGACAGATTTATGTAAA	0.313																																						.											0													51.0	49.0	50.0					12																	123282632		2203	4299	6502	SO:0001630	splice_region_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.862-1A>T	12.37:g.123282632A>T			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636671	0.67130	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.56103	1.11;1.11;0.48;0.48	5.46	4.11	0.48088	.	0.098893	0.42682	D	0.000680	T	0.64670	0.2619	M	0.65498	2.005	0.80722	D	1	P;P;D	0.71674	0.741;0.928;0.998	P;P;D	0.69654	0.448;0.603;0.965	T	0.64918	-0.6294	9	.	.	.	-18.2933	7.848	0.29437	0.8933:0.0:0.1067:0.0	.	288;49;288	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	F	288;288;49;49	ENSP00000253079:I288F;ENSP00000376236:I288F;ENSP00000445045:I49F;ENSP00000376235:I49F	.	I	+	1	0	CCDC62	121848585	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	2.487000	0.45268	2.073000	0.62155	0.467000	0.42956	ATT		0.313	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Missense_Mutation
SCFD1	23256	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	14	31107412	31107412	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:31107412A>G	ENST00000458591.2	+	5	621	c.394A>G	c.(394-396)Aat>Gat	p.N132D	SCFD1_ENST00000544052.2_Missense_Mutation_p.N65D|SCFD1_ENST00000421551.3_Missense_Mutation_p.N73D|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_Missense_Mutation_p.N40D	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	132					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGATATTGCAAATGCAGCGTT	0.323																																						.											0													67.0	61.0	63.0					14																	31107412		2203	4300	6503	SO:0001583	missense	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.394A>G	14.37:g.31107412A>G	ENSP00000390783:p.Asn132Asp		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964404	0.74131	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000557076;ENST00000396629	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.75	5.75	0.90469	.	0.048137	0.85682	D	0.000000	T	0.68988	0.3061	L	0.36672	1.1	0.80722	D	1	B;B;B	0.23806	0.091;0.019;0.001	B;B;B	0.29440	0.102;0.05;0.027	T	0.67825	-0.5570	10	0.72032	D	0.01	-19.7473	15.2403	0.73465	1.0:0.0:0.0:0.0	.	73;65;132	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	D	132;65;73;107;40	ENSP00000390783:N132D;ENSP00000443010:N65D;ENSP00000388078:N73D;ENSP00000450755:N107D;ENSP00000379870:N40D	ENSP00000309417:N140D	N	+	1	0	SCFD1	30177163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.185000	0.69588	0.533000	0.62120	AAT		0.323	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	
LLGL2	3993	broad.mit.edu;hgsc.bcm.edu	37	17	73566231	73566231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566231delT	ENST00000392550.3	+	15	1886	c.1769delT	c.(1768-1770)gtgfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCCCGGCTGTGGTCACCTCC	0.672																																						.											0													32.0	26.0	28.0					17																	73566231		2188	4295	6483	SO:0001589	frameshift_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1769delT	17.37:g.73566231delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	T	rs121912664		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		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"""	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664						57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	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.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	73826730	73826730	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73826730C>T	ENST00000207549.4	-	28	3017	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	UNC13D_ENST00000412096.2_Missense_Mutation_p.D880N	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	880	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTCCAGGTCCCTCTGCAGA	0.647									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													22.0	21.0	22.0					17																	73826730		2174	4254	6428	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2638G>A	17.37:g.73826730C>T	ENSP00000207549:p.Asp880Asn	1148	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087391	0.36855	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.73469	-0.75;-0.75	4.71	2.59	0.31030	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.544272	0.19149	N	0.121481	T	0.57548	0.2061	N	0.25647	0.755	0.28887	N	0.894087	B	0.15930	0.015	B	0.13407	0.009	T	0.46133	-0.9213	10	0.18276	T	0.48	-0.9902	10.0074	0.41965	0.0:0.815:0.0:0.185	.	880	Q70J99	UN13D_HUMAN	N	880	ENSP00000207549:D880N;ENSP00000388093:D880N	ENSP00000207549:D880N	D	-	1	0	UNC13D	71338325	0.533000	0.26354	0.986000	0.45419	0.880000	0.50808	0.864000	0.27926	1.208000	0.43306	-0.448000	0.05591	GAC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	56063457	56063457	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:56063457C>T	ENST00000400345.3	+	31	3167	c.2884C>T	c.(2884-2886)Ctc>Ttc	p.L962F	NEDD4L_ENST00000256832.7_Missense_Mutation_p.L822F|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L821F|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L942F|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L934F|NEDD4L_ENST00000456986.1_Missense_Mutation_p.L841F|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L841F|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L954F|RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L898F|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L858F|NEDD4L_ENST00000589054.1_Missense_Mutation_p.L93F	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGAAACTTCTCATGGCCGT	0.453																																						.											0													103.0	88.0	93.0					18																	56063457		1868	4113	5981	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2884C>T	18.37:g.56063457C>T	ENSP00000383199:p.Leu962Phe		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080156	0.55753	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.77	5.77	0.91146	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.86097	2.795	0.80722	D	1	D;P;D;D;D;D	0.71674	0.965;0.943;0.996;0.998;0.972;0.965	P;P;P;D;P;P	0.72075	0.522;0.522;0.798;0.976;0.653;0.522	T	0.80372	-0.1410	10	0.54805	T	0.06	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	934;954;821;898;962;942	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	F	962;942;898;858;822;841;954;821;821;841	ENSP00000383199:L962F;ENSP00000372301:L942F;ENSP00000348847:L898F;ENSP00000256830:L858F;ENSP00000256832:L822F;ENSP00000411947:L841F;ENSP00000350569:L954F;ENSP00000393395:L821F;ENSP00000405440:L821F;ENSP00000389406:L841F	ENSP00000256830:L858F	L	+	1	0	NEDD4L	54214437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.880000	0.69698	2.890000	0.99128	0.650000	0.86243	CTC		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	86954776	86954776	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:86954776A>T	ENST00000234701.3	+	9	1631	c.1280A>T	c.(1279-1281)cAa>cTa	p.Q427L	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q427L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GAGGTCAAACAAAGTGGTGCC	0.478																																						.											0													112.0	105.0	107.0					1																	86954776		2203	4300	6503	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1280A>T	1.37:g.86954776A>T	ENSP00000234701:p.Gln427Leu		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613034	0.28712	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.15017	2.46;2.46	5.68	5.68	0.88126	von Willebrand factor, type A (3);	0.627114	0.16134	N	0.228078	T	0.16769	0.0403	M	0.73217	2.22	0.09310	N	1	B;B	0.34399	0.452;0.452	P;B	0.45913	0.497;0.428	T	0.21280	-1.0250	10	0.56958	D	0.05	-0.6591	9.4357	0.38637	0.9193:0.0:0.0807:0.0	.	427;190	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	L	427;427;140	ENSP00000234701:Q427L;ENSP00000378200:Q427L	ENSP00000234701:Q427L	Q	+	2	0	CLCA1	86727364	0.002000	0.14202	0.086000	0.20670	0.092000	0.18411	1.751000	0.38339	2.152000	0.67230	0.533000	0.62120	CAA		0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
C19orf26	255057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	1236022	1236022	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:1236022C>T	ENST00000382477.2	-	2	334	c.60G>A	c.(58-60)tcG>tcA	p.S20S	C19orf26_ENST00000215376.6_Silent_p.S20S|C19orf26_ENST00000590083.1_Silent_p.S26S|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	20	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGTCCCACGACGTCGTCA	0.687										HNSCC(14;0.022)																												.											0													50.0	38.0	42.0					19																	1236022		2201	4297	6498	SO:0001819	synonymous_variant	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.60G>A	19.37:g.1236022C>T			O43385	Silent	SNP	ENST00000382477.2	37																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769	
TMPRSS15	5651	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	21	19770214	19770214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr21:19770214G>T	ENST00000284885.3	-	3	359	c.326C>A	c.(325-327)tCa>tAa	p.S109*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	109	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAACTCTTGAGTTCTTATA	0.244																																						.											0													16.0	17.0	17.0					21																	19770214		2136	4209	6345	SO:0001587	stop_gained	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.326C>A	21.37:g.19770214G>T	ENSP00000284885:p.Ser109*		Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729406	0.96856	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	.	.	.	4.78	4.78	0.61160	.	0.078927	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4889	0.61382	0.0:0.0:1.0:0.0	.	.	.	.	X	109;64	.	.	S	-	2	0	TMPRSS15	18692085	1.000000	0.71417	0.914000	0.36105	0.985000	0.73830	2.024000	0.41049	2.625000	0.88918	0.643000	0.83706	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	212578299	212578299	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:212578299T>C	ENST00000342788.4	-	8	1268	c.958A>G	c.(958-960)Att>Gtt	p.I320V	ERBB4_ENST00000402597.1_Missense_Mutation_p.I320V|ERBB4_ENST00000436443.1_Missense_Mutation_p.I320V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	320	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I320F(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CACATTTTAATCCCATTTTCT	0.358										TSP Lung(8;0.080)																												.											1	Substitution - Missense(1)	endometrium(1)											135.0	131.0	132.0					2																	212578299		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.958A>G	2.37:g.212578299T>C	ENSP00000342235:p.Ile320Val		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	4.757	0.140806	0.09083	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.27890	1.64;1.64;1.64	5.57	5.57	0.84162	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.092812	0.64402	D	0.000001	T	0.15998	0.0385	N	0.11000	0.08	0.52099	D	0.999942	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.08166	-1.0735	10	0.02654	T	1	.	15.7821	0.78269	0.0:0.0:0.0:1.0	.	320;320;179;320;320	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	V	320	ENSP00000342235:I320V;ENSP00000403204:I320V;ENSP00000385565:I320V	ENSP00000342235:I320V	I	-	1	0	ERBB4	212286544	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	6.285000	0.72658	2.129000	0.65627	0.529000	0.55759	ATT		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
BRD1	23774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50187922	50187922	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:50187922C>T	ENST00000216267.8	-	6	2605	c.2119G>A	c.(2119-2121)Gcc>Acc	p.A707T	BRD1_ENST00000342989.5_Missense_Mutation_p.A302T|BRD1_ENST00000542442.1_Missense_Mutation_p.A395T|BRD1_ENST00000404760.1_Missense_Mutation_p.A707T|BRD1_ENST00000457780.2_Missense_Mutation_p.A707T|BRD1_ENST00000404034.1_Missense_Mutation_p.A707T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	707					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTCTGTTGGCGGGGTCCAGC	0.602																																						.											0													59.0	64.0	62.0					22																	50187922		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2119G>A	22.37:g.50187922C>T	ENSP00000216267:p.Ala707Thr		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002749	0.74932	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27557	2.6;2.6;2.58;2.42;1.66;2.02	5.4	5.4	0.78164	.	0.098489	0.64402	D	0.000001	T	0.28699	0.0711	M	0.73598	2.24	0.58432	D	0.999998	P;P;P;P	0.46656	0.812;0.597;0.456;0.882	B;B;B;B	0.33799	0.082;0.048;0.082;0.17	T	0.13495	-1.0507	10	0.22706	T	0.39	.	12.5109	0.56005	0.0:0.9236:0.0:0.0764	.	707;302;707;707	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	707;707;707;707;395;302;167	ENSP00000216267:A707T;ENSP00000384076:A707T;ENSP00000385858:A707T;ENSP00000410042:A707T;ENSP00000437514:A395T;ENSP00000345886:A302T	ENSP00000216267:A707T	A	-	1	0	BRD1	48573926	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	5.876000	0.69667	2.524000	0.85096	0.655000	0.94253	GCC		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
XYLB	9942	hgsc.bcm.edu;mdanderson.org	37	3	38388378	38388378	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:38388378C>T	ENST00000207870.3	+	1	109	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	XYLB_ENST00000427323.1_Missense_Mutation_p.R7C|XYLB_ENST00000542835.1_5'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	7					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCACGCCCCTCGCCGCTGCTG	0.736																																						.											0													8.0	10.0	10.0					3																	38388378		2105	4150	6255	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.19C>T	3.37:g.38388378C>T	ENSP00000207870:p.Arg7Cys		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446699	0.63178	.	.	ENSG00000093217	ENST00000427323;ENST00000207870	T	0.14893	2.47	3.55	1.66	0.24008	.	1.030270	0.07717	N	0.942921	T	0.18087	0.0434	L	0.38175	1.15	0.20873	N	0.999831	D	0.69078	0.997	P	0.49502	0.613	T	0.18618	-1.0331	10	0.59425	D	0.04	.	4.5237	0.11971	0.0:0.641:0.2321:0.1269	.	7	O75191	XYLB_HUMAN	C	7	ENSP00000207870:R7C	ENSP00000207870:R7C	R	+	1	0	XYLB	38363382	0.091000	0.21658	0.003000	0.11579	0.185000	0.23345	1.371000	0.34250	0.450000	0.26774	0.650000	0.86243	CGC		0.736	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	
MDC1	9656	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	30672144	30672144	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:30672144C>A	ENST00000376406.3	-	10	5463	c.4816G>T	c.(4816-4818)Gtc>Ttc	p.V1606F	MDC1_ENST00000376405.2_Missense_Mutation_p.V1342F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1606	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGTCTTGACAGAGGACCTA	0.602								Other conserved DNA damage response genes																														.											0													118.0	130.0	126.0					6																	30672144		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4816G>T	6.37:g.30672144C>A	ENSP00000365588:p.Val1606Phe		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490343	0.44249	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11821	2.74;2.74	3.4	1.48	0.22813	.	1.326470	0.05791	N	0.610382	T	0.16085	0.0387	M	0.64997	1.995	0.09310	N	1	D;D	0.71674	0.998;0.983	D;P	0.70487	0.969;0.68	T	0.09271	-1.0682	10	0.56958	D	0.05	0.0372	4.9637	0.14080	0.0:0.6897:0.0:0.3103	.	1342;1606	Q14676-2;Q14676	.;MDC1_HUMAN	F	1606;1342;1319;1172	ENSP00000365588:V1606F;ENSP00000365587:V1342F	ENSP00000365587:V1342F	V	-	1	0	MDC1	30780123	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.379000	0.07437	0.391000	0.25143	0.449000	0.29647	GTC		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
HSP90AB1	3326	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	44218791	44218791	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:44218791T>G	ENST00000371554.1	+	7	1178	c.964T>G	c.(964-966)Tct>Gct	p.S322A	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S322A|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S322A			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	322					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGCACTTTTCTGTAGAAGG	0.383																																						.											0													114.0	113.0	113.0					6																	44218791		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.964T>G	6.37:g.44218791T>G	ENSP00000360609:p.Ser322Ala		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641533	0.67244	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12569	2.67;2.67;2.67	4.76	4.76	0.60689	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000004	T	0.23054	0.0557	H	0.94385	3.53	0.80722	D	1	B;B;B	0.24882	0.002;0.113;0.001	B;B;B	0.36186	0.014;0.219;0.035	T	0.15093	-1.0449	10	0.66056	D	0.02	-10.7397	14.2648	0.66110	0.0:0.0:0.0:1.0	.	284;312;322	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	A	322	ENSP00000360709:S322A;ENSP00000325875:S322A;ENSP00000360609:S322A	ENSP00000325875:S322A	S	+	1	0	HSP90AB1	44326769	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.017000	0.88712	1.794000	0.52575	0.397000	0.26171	TCT		0.383	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
KLHDC10	23008	hgsc.bcm.edu	37	7	129710524	129710524	+	Missense_Mutation	SNP	G	G	C	rs1062154	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:129710524G>C	ENST00000335420.5	+	1	175	c.41G>C	c.(40-42)gGa>gCa	p.G14A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	14	Gly-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						cgccggaggggaggaggcgcc	0.756													G|||	31	0.0061901	0.0015	0.0058	5008	,	,		6862	0.0		0.0209	False		,,,				2504	0.0041					.											0								G	ALA/GLY	8,2858		0,8,1425	2.0	3.0	3.0		41	4.5	1.0	7	dbSNP_86	3	119,6077		0,119,2979	no	missense	KLHDC10	NM_014997.3	60	0,127,4404	CC,CG,GG		1.9206,0.2791,1.4015	probably-damaging	14/443	129710524	127,8935	1433	3098	4531	SO:0001583	missense	23008				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.41G>C	7.37:g.129710524G>C	ENSP00000334140:p.Gly14Ala		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	16	0.007326007326007326	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	14	0.018469656992084433	G	25.9	4.681437	0.88542	0.002791	0.019206	ENSG00000128607	ENST00000335420;ENST00000463413	T;T	0.36340	2.37;1.26	5.36	4.47	0.54385	.	0.279987	0.25380	N	0.031096	T	0.18800	0.0451	N	0.08118	0	0.29092	N	0.88205	D	0.76494	0.999	D	0.73708	0.981	T	0.08785	-1.0705	10	0.09338	T	0.73	-11.428	11.5366	0.50641	0.0:0.0:0.8214:0.1786	rs1062154;rs3173906	14	Q6PID8	KLD10_HUMAN	A	14	ENSP00000334140:G14A;ENSP00000420083:G14A	ENSP00000334140:G14A	G	+	2	0	KLHDC10	129497760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.758000	0.47565	1.243000	0.43853	0.591000	0.81541	GGA		0.756	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2		
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu	37	7	21904162	21904165	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904162_21904165delAGAA	ENST00000409508.3	+	70	11414_11417	c.11383_11386delAGAA	c.(11383-11388)agaaagfs	p.RK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.RK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTTGTTGAGAAAGAAAGAGAT	0.387									Kartagener syndrome																													.											0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11383_11386delAGAA	7.37:g.21904166_21904169delAGAA	ENSP00000475939:p.Arg3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.387	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
TNS3	64759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	47451335	47451335	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:47451335C>G	ENST00000398879.1	-	13	1079	c.713G>C	c.(712-714)gGa>gCa	p.G238A	TNS3_ENST00000442536.2_Missense_Mutation_p.G238A|TNS3_ENST00000311160.9_Missense_Mutation_p.G238A|TNS3_ENST00000355730.3_Missense_Mutation_p.G238A|TNS3_ENST00000458317.2_Missense_Mutation_p.G238A			Q68CZ2	TENS3_HUMAN	tensin 3	238	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGACATCTCCCTTCAGAAG	0.512																																						.											0													56.0	63.0	61.0					7																	47451335		2072	4190	6262	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.713G>C	7.37:g.47451335C>G	ENSP00000381854:p.Gly238Ala		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465360	0.84425	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.17	5.17	0.71159	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.112469	0.64402	D	0.000011	D	0.98438	0.9480	M	0.92833	3.35	0.51233	D	0.999911	D;P	0.89917	1.0;0.775	D;P	0.91635	0.999;0.649	D	0.99376	1.0921	10	0.87932	D	0	-28.4514	14.219	0.65812	0.0:1.0:0.0:0.0	.	238;238	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	A	238;348;238;238;341;327;238;238	ENSP00000312143:G238A;ENSP00000381854:G238A;ENSP00000347968:G238A;ENSP00000414358:G341A;ENSP00000396914:G327A;ENSP00000389285:G238A;ENSP00000388318:G238A	ENSP00000312143:G238A	G	-	2	0	TNS3	47417860	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.176000	0.71955	2.416000	0.81992	0.555000	0.69702	GGA		0.512	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
FGL2	10875	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	76828559	76828559	+	Silent	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:76828559G>A	ENST00000248598.5	-	1	584	c.552C>T	c.(550-552)gtC>gtT	p.V184V	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	184						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCAAACTATTGACAACAAATG	0.343																																						.											0													131.0	124.0	126.0					7																	76828559		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.552C>T	7.37:g.76828559G>A				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.343	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
RNF32	140545	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	156437191	156437191	+	Splice_Site	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:156437191A>G	ENST00000405335.1	+	4	424		c.e4-1		RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000392741.2_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000392740.1_Splice_Site|RNF32_ENST00000432459.2_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000343665.4_Splice_Site			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTACTTTTTAGGGTCACTCA	0.343																																						.											0													50.0	54.0	53.0					7																	156437191		2203	4299	6502	SO:0001630	splice_region_variant	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.16-1A>G	7.37:g.156437191A>G			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Splice_Site	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594126	0.28445	.	.	ENSG00000105982	ENST00000404282;ENST00000439609;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	.	.	.	5.08	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0183	0.53329	0.8559:0.1441:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF32	156129952	1.000000	0.71417	0.994000	0.49952	0.553000	0.35397	3.274000	0.51631	1.910000	0.55303	0.482000	0.46254	.		0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	Intron
SCRIB	23513	hgsc.bcm.edu	37	8	144874055	144874055	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:144874055C>T	ENST00000320476.3	-	34	4692	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Silent_p.P1562P|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1481P|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1562					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGGCGTCCCGGGGAGGTGC	0.726																																					Pancreas(51;966 1133 10533 14576 29674)	.											0													6.0	8.0	7.0					8																	144874055		2073	4137	6210	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4686G>A	8.37:g.144874055C>T			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018831	0.19355	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.46	-8.93	0.00771	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.51482	D	0.999928	.	.	.	.	.	.	T	0.51196	-0.8736	4	.	.	.	.	6.53	0.22322	0.1245:0.4597:0.3309:0.0849	.	.	.	.	R	582	.	.	G	-	1	0	SCRIB	144946043	0.000000	0.05858	0.727000	0.30756	0.989000	0.77384	-3.492000	0.00453	-2.365000	0.00606	-0.408000	0.06270	GGG		0.726	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
ADCK5	203054	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	145617189	145617189	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:145617189G>A	ENST00000308860.6	+	10	1107	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	355	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATTTTACACCGGCTTCATCCA	0.592																																						.											0													78.0	79.0	79.0					8																	145617189		2202	4300	6502	SO:0001583	missense	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1063G>A	8.37:g.145617189G>A	ENSP00000310547:p.Gly355Ser		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140720	0.77775	.	.	ENSG00000173137	ENST00000308860	T	0.28454	1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71293	-0.4636	10	0.72032	D	0.01	-44.657	16.9685	0.86293	0.0:0.0:1.0:0.0	.	355	Q3MIX3	ADCK5_HUMAN	S	355	ENSP00000310547:G355S	ENSP00000310547:G355S	G	+	1	0	ADCK5	145587997	1.000000	0.71417	0.949000	0.38748	0.225000	0.24961	5.708000	0.68377	2.617000	0.88574	0.555000	0.69702	GGC		0.592	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	
SHROOM2	357	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	9905226	9905226	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:9905226A>G	ENST00000380913.3	+	7	3730	c.3640A>G	c.(3640-3642)Atc>Gtc	p.I1214V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.I49V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1214					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCCATCAAGATCGTGCACTC	0.592																																						.											0													46.0	32.0	37.0					X																	9905226		2202	4298	6500	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3640A>G	X.37:g.9905226A>G	ENSP00000370299:p.Ile1214Val		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075380	0.76415	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.58210	1.95;1.03;0.35	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.61218	1.895	0.49483	D	0.99979	D;D	0.67145	0.996;0.985	P;D	0.67548	0.878;0.952	T	0.65940	-0.6046	10	0.33940	T	0.23	-14.2064	14.0878	0.64971	1.0:0.0:0.0:0.0	.	49;1214	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1214;49;49;49	ENSP00000370299:I1214V;ENSP00000415229:I49V;ENSP00000406724:I49V	ENSP00000370299:I1214V	I	+	1	0	SHROOM2	9865226	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	8.769000	0.91742	1.704000	0.51252	0.481000	0.45027	ATC		0.592	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
BRS3	680	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	135570529	135570529	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:135570529A>G	ENST00000370648.3	+	1	484	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	86					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAATATTTTCATCACCAGCCT	0.418																																						.											0													151.0	134.0	139.0					X																	135570529		2203	4300	6503	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.256A>G	X.37:g.135570529A>G	ENSP00000359682:p.Ile86Val			Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935780	0.52972	.	.	ENSG00000102239	ENST00000370648	T	0.40225	1.04	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.60560	0.2278	M	0.67953	2.075	0.46564	D	0.999101	D	0.58620	0.983	P	0.62014	0.897	T	0.63795	-0.6556	10	0.62326	D	0.03	-16.6344	14.8936	0.70627	1.0:0.0:0.0:0.0	.	86	P32247	BRS3_HUMAN	V	86	ENSP00000359682:I86V	ENSP00000359682:I86V	I	+	1	0	BRS3	135398195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.040000	0.64191	1.899000	0.54978	0.486000	0.48141	ATC		0.418	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727	
KMT2C	58508	hgsc.bcm.edu;mdanderson.org	37	7	152132844	152132845	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:152132844_152132845CC>TT	ENST00000262189.6	-	1	245_246	c.27_28GG>AA	c.(25-30)gtGGag>gtAAag	p.E10K	FABP5P3_ENST00000477993.1_RNA|KMT2C_ENST00000355193.2_Missense_Mutation_p.E10K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	10					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)										TGCGGCTGCTCCACGCTCTTGT	0.733																																						.											0																																										SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.27_28delinsTT	7.37:g.152132844_152132845delinsTT	ENSP00000262189:p.Glu10Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	DNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.733	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
TG	7038	hgsc.bcm.edu	37	8	134128949	134128949	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:134128949C>T	ENST00000220616.4	+	45	7891	c.7851C>T	c.(7849-7851)taC>taT	p.Y2617Y	TG_ENST00000377869.1_Silent_p.Y2560Y|TG_ENST00000519543.1_Silent_p.Y750Y|TG_ENST00000542445.1_Silent_p.Y987Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2617					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAAACTACGGCCATGGCA	0.517																																						.											0													94.0	76.0	82.0					8																	134128949		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7851C>T	8.37:g.134128949C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627610	0.00813	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.53	-8.73	0.00841	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.44832	-0.9302	4	.	.	.	.	18.2325	0.89938	0.0:0.8626:0.0:0.1374	.	.	.	.	W	1073	.	.	R	+	1	2	TG	134198131	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.654000	0.01984	-1.842000	0.01181	-2.404000	0.00223	CGG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
RPTN	126638	broad.mit.edu	37	1	152127952	152127952	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:152127952T>C	ENST00000316073.3	-	3	1687	c.1623A>G	c.(1621-1623)caA>caG	p.Q541Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	541	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AACTCTGGCCTTGTCTGTCCA	0.522																																						.											0													778.0	685.0	713.0					1																	152127952		1568	3582	5150	SO:0001819	synonymous_variant	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1623A>G	1.37:g.152127952T>C			B7ZBZ3	Silent	SNP	ENST00000316073.3	37	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
ZNF438	220929	broad.mit.edu	37	10	31138701	31138701	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:31138701A>G	ENST00000361310.3	-	6	962	c.633T>C	c.(631-633)caT>caC	p.H211H	ZNF438_ENST00000442986.1_Silent_p.H211H|ZNF438_ENST00000331737.6_Silent_p.H201H|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000538351.2_Silent_p.H162H|ZNF438_ENST00000436087.2_Silent_p.H211H|ZNF438_ENST00000413025.1_Silent_p.H211H|ZNF438_ENST00000452305.1_Silent_p.H201H|ZNF438_ENST00000444692.2_Silent_p.H201H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	211					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCAGACTGCCATGGGTGTTGG	0.552																																						.											0													133.0	120.0	124.0					10																	31138701		2203	4300	6503	SO:0001819	synonymous_variant	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.633T>C	10.37:g.31138701A>G			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.552	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
SHOC2	8036	broad.mit.edu	37	10	112696659	112696659	+	Intron	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:112696659A>G	ENST00000369452.4	+	1	111				SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.P111P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCTTGTCGTAAGGCGGTGGGA	0.577																																						.											1	Substitution - coding silent(1)	prostate(1)																																								SO:0001627	intron_variant	644511			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17244A>G	10.37:g.112696659A>G			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	RNA	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																				0.577	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
CYP2E1	1571	broad.mit.edu;ucsc.edu;mdanderson.org	37	10	135346309	135346310	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:135346309_135346310TC>CA	ENST00000463117.2	+	7	1034_1035	c.762_763TC>CA	c.(760-765)caTCaa>caCAaa	p.Q255K	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.Q255K			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	255					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAGCACCATCAATCTCTGGA	0.53									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													.											0																																										SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	Exception_encountered	10.37:g.135346309_135346310delinsCA	ENSP00000440689:p.Gln255Lys		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	DNP	ENST00000463117.2	37	CCDS7686.1																																																																																				0.530	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
CACNA1H	8912	broad.mit.edu	37	16	1265531	1265531	+	Silent	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1265531C>T	ENST00000348261.5	+	30	5430	c.5182C>T	c.(5182-5184)Ctg>Ttg	p.L1728L	CACNA1H_ENST00000358590.4_Silent_p.L1722L|CACNA1H_ENST00000565831.1_Silent_p.L1722L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1728					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGTGCTGAAGCTGCTGAAGAT	0.721																																						.											0													28.0	32.0	31.0					16																	1265531		2042	4180	6222	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5182C>T	16.37:g.1265531C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
ARHGEF18	23370	broad.mit.edu	37	19	7504944	7504944	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:7504944G>A	ENST00000359920.6	+	1	371	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	40					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AAACGGCGCAGCCCAGCCTGG	0.662																																						.											0													24.0	24.0	24.0					19																	7504944		692	1591	2283	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.118G>A	19.37:g.7504944G>A	ENSP00000352995:p.Ala40Thr		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704937	0.30232	.	.	ENSG00000104880	ENST00000359920	T	0.34072	1.38	5.23	2.92	0.33932	.	1.322080	0.05826	U	0.616753	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	0.999999	B	0.30068	0.267	B	0.22386	0.039	T	0.24083	-1.0170	10	0.87932	D	0	-3.5629	6.1624	0.20372	0.0:0.2002:0.5654:0.2344	.	40	Q6ZSZ5	ARHGI_HUMAN	T	40	ENSP00000352995:A40T	ENSP00000352995:A40T	A	+	1	0	ARHGEF18	7410944	0.005000	0.15991	0.006000	0.13384	0.435000	0.31806	1.277000	0.33167	1.172000	0.42781	0.561000	0.74099	GCC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
MARCO	8685	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	119731958	119731958	+	Silent	SNP	G	G	A	rs140866852	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:119731958G>A	ENST00000327097.4	+	5	645	c.510G>A	c.(508-510)ccG>ccA	p.P170P	MARCO_ENST00000541757.1_Silent_p.P92P	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	170	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCCTGGCCCGCCGGGACCAC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		18864	0.001		0.001	False		,,,				2504	0.0				GBM(8;18 374 7467 11269 32796)	.											0								G		1,4401	2.1+/-5.4	0,1,2200	63.0	67.0	66.0		510	-1.4	0.0	2	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MARCO	NM_006770.3		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		170/521	119731958	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.510G>A	2.37:g.119731958G>A			B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
LRP2	4036	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	170060758	170060758	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:170060758A>G	ENST00000263816.3	-	42	8024	c.7739T>C	c.(7738-7740)cTg>cCg	p.L2580P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2580					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACGCCCGTCAGAGTGCTGCG	0.428																																						.											0													135.0	143.0	140.0					2																	170060758		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7739T>C	2.37:g.170060758A>G	ENSP00000263816:p.Leu2580Pro		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642492	0.67244	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.78	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);	0.139853	0.48767	N	0.000164	D	0.98495	0.9498	M	0.91196	3.185	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.98688	1.0695	10	0.72032	D	0.01	.	11.4806	0.50322	0.93:0.0:0.07:0.0	.	2580	P98164	LRP2_HUMAN	P	2580	ENSP00000263816:L2580P	ENSP00000263816:L2580P	L	-	2	0	LRP2	169769004	1.000000	0.71417	0.164000	0.22755	0.683000	0.39861	6.331000	0.72929	1.019000	0.39547	0.533000	0.62120	CTG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179497287	179497287	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:179497287T>C	ENST00000591111.1	-	185	38747	c.38523A>G	c.(38521-38523)gaA>gaG	p.E12841E	TTN_ENST00000589042.1_Silent_p.E14482E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E5542E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.E5609E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E5417E|TTN_ENST00000342992.6_Silent_p.E11914E|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12841	Ig-like 85.				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)			TGTGCTTATCTTCAGCTTCAA	0.343																																						.											0													112.0	109.0	110.0					2																	179497287		1915	4116	6031	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38523A>G	2.37:g.179497287T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SIGLEC1	6614	broad.mit.edu;bcgsc.ca	37	20	3669873	3669873	+	Splice_Site	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:3669873T>C	ENST00000344754.4	-	20	4998	c.4999A>G	c.(4999-5001)Agg>Ggg	p.R1667G	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1667					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACACGCCTCCTTCTGCAAGGC	0.587																																						.											0													179.0	158.0	165.0					20																	3669873		2203	4300	6503	SO:0001630	splice_region_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4998-1A>G	20.37:g.3669873T>C			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363971	0.41902	.	.	ENSG00000088827	ENST00000344754	T	0.33216	1.42	5.13	4.02	0.46733	.	0.364252	0.20218	N	0.096755	T	0.21590	0.0520	L	0.29908	0.895	0.52501	D	0.999954	B	0.23058	0.079	B	0.19391	0.025	T	0.04767	-1.0928	10	0.62326	D	0.03	.	7.7455	0.28866	0.0:0.0965:0.0:0.9035	.	1667	Q9BZZ2	SN_HUMAN	G	1667	ENSP00000341141:R1667G	ENSP00000341141:R1667G	R	-	1	2	SIGLEC1	3617873	0.158000	0.22850	0.548000	0.28192	0.080000	0.17528	1.044000	0.30329	0.895000	0.36342	0.533000	0.62120	AGG		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Missense_Mutation
OSM	5008	broad.mit.edu	37	22	30661055	30661055	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr22:30661055A>G	ENST00000215781.2	-	2	153	c.113T>C	c.(112-114)cTc>cCc	p.L38P	OSM_ENST00000403389.1_Missense_Mutation_p.L17P|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	38					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTGGCCAAGGAGCACGCGGTA	0.577																																						.											0													143.0	132.0	136.0					22																	30661055		2203	4300	6503	SO:0001583	missense	5008			AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.113T>C	22.37:g.30661055A>G	ENSP00000215781:p.Leu38Pro		Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286191	0.59867	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.62941	-0.01	3.69	3.69	0.42338	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.33496	N	0.004844	T	0.66636	0.2809	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68800	-0.5313	10	0.87932	D	0	-31.3671	9.04	0.36311	1.0:0.0:0.0:0.0	.	38	P13725	ONCM_HUMAN	P	38;17	ENSP00000215781:L38P	ENSP00000215781:L38P	L	-	2	0	OSM	28991055	0.980000	0.34600	0.641000	0.29422	0.074000	0.17049	2.556000	0.45862	1.922000	0.55676	0.459000	0.35465	CTC		0.577	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530	
VPRBP	9730	broad.mit.edu;mdanderson.org	37	3	51475088	51475088	+	Intron	SNP	C	C	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:51475088C>T	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGAAGTAGCTGAAATGAAC	0.378																																						.											0													55.0	52.0	53.0					3																	51475088		1907	4116	6023	SO:0001627	intron_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+666G>A	3.37:g.51475088C>T			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.874099	0.91664	.	.	ENSG00000145041	ENST00000504652	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPRBP	51450128	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.270000	0.78493	2.941000	0.99782	0.655000	0.94253	.		0.378	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
ALAS1	211	broad.mit.edu	37	3	52233380	52233380	+	Silent	SNP	C	C	A	rs182395582		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:52233380C>A	ENST00000394965.2	+	3	483	c.123C>A	c.(121-123)gcC>gcA	p.A41A	ALAS1_ENST00000310271.2_Silent_p.A41A|ALAS1_ENST00000469224.1_Silent_p.A41A|ALAS1_ENST00000484952.1_Silent_p.A41A	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	41					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAGTTGGGGCCAAGCCAGCCC	0.527																																						.											0													59.0	56.0	57.0					3																	52233380		2203	4300	6503	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.123C>A	3.37:g.52233380C>A				Silent	SNP	ENST00000394965.2	37	CCDS2847.1																																																																																				0.527	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
ERICH6	131831	broad.mit.edu	37	3	150421569	150421569	+	Silent	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.E39E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.627																																						.											1	Substitution - coding silent(1)	prostate(1)											92.0	78.0	83.0					3																	150421569		2203	4298	6501	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.117A>G	3.37:g.150421569T>C				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
EIF4G1	1981	broad.mit.edu	37	3	184035256	184035256	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:184035256T>C	ENST00000346169.2	+	5	566	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S12P|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S99P|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S59P|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S106P|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S106P|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S99P|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S12P|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S59P|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	99					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACCCAGCCTCCCAGGGGGC	0.612																																						.											0													48.0	54.0	52.0					3																	184035256		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.295T>C	3.37:g.184035256T>C	ENSP00000316879:p.Ser99Pro		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542841	0.27563	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	2.09;2.09;1.2;2.09;2.09;2.09;1.2;1.2;2.09;1.2;1.2;2.09;2.09;2.09;1.2;2.09	5.08	5.08	0.68730	.	0.514295	0.20823	N	0.085028	T	0.19087	0.0458	N	0.11673	0.155	0.50632	D	0.99988	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.06481	-1.0824	10	0.06099	T	0.92	-13.2414	15.0055	0.71510	0.0:0.0:0.0:1.0	.	106;99;99	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	P	99;59;12;99;106;106;59;99;106;66;12;99;99;106;59;59	ENSP00000316879:S99P;ENSP00000391935:S59P;ENSP00000376320:S12P;ENSP00000391412:S99P;ENSP00000413159:S106P;ENSP00000371767:S106P;ENSP00000415842:S59P;ENSP00000407240:S99P;ENSP00000338020:S106P;ENSP00000411214:S66P;ENSP00000407682:S12P;ENSP00000343450:S99P;ENSP00000323737:S99P;ENSP00000416255:S106P;ENSP00000415943:S59P;ENSP00000395974:S59P	ENSP00000323737:S99P	S	+	1	0	EIF4G1	185517950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.037000	0.64170	2.133000	0.65898	0.533000	0.62120	TCC		0.612	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
GZMK	3003	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	54329718	54329718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:54329718G>A	ENST00000231009.2	+	5	829	c.759G>A	c.(757-759)tgG>tgA	p.W253*	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCAGACTTGGATCAAAAGCA	0.408																																						.											0													105.0	98.0	100.0					5																	54329718		2203	4300	6503	SO:0001587	stop_gained	3003			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.759G>A	5.37:g.54329718G>A	ENSP00000231009:p.Trp253*		B2R563	Nonsense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378106	0.82682	.	.	ENSG00000113088	ENST00000231009	.	.	.	4.84	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1296	0.53936	0.0:0.0:0.8272:0.1728	.	.	.	.	X	253	.	ENSP00000231009:W253X	W	+	3	0	GZMK	54365475	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	4.997000	0.63921	1.302000	0.44855	0.655000	0.94253	TGG		0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
STC2	8614	broad.mit.edu	37	5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592																																						.											0													37.0	33.0	34.0					5																	172750382		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.346C>A	5.37:g.172750382G>T	ENSP00000265087:p.His116Asn			Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233125|4.233125	0.79688|0.79688	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000520648|ENST00000265087;ENST00000518455	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.097540	.|0.64402	.|D	.|0.000001	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.40398	.|0.716	.|B	.|0.43052	.|0.406	T|T	0.58696|0.58696	-0.7591|-0.7591	5|9	.|0.39692	.|T	.|0.17	-24.4682|-24.4682	19.2469|19.2469	0.93905|0.93905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116	.|O76061	.|STC2_HUMAN	E|N	69|116;31	.|.	.|ENSP00000265087:H116N	A|H	-|-	2|1	0|0	STC2|STC2	172682988|172682988	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.856000|0.856000	0.48823|0.48823	9.476000|9.476000	0.97823|0.97823	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.592	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	
NPSR1	387129	broad.mit.edu	37	7	34724247	34724247	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:34724247A>G	ENST00000360581.1	+	2	359	c.231A>G	c.(229-231)agA>agG	p.R77R	NPSR1_ENST00000381542.1_Silent_p.R77R|NPSR1_ENST00000381539.3_Silent_p.R77R|NPSR1_ENST00000381553.3_Silent_p.R77R|NPSR1_ENST00000531252.1_Silent_p.R77R|NPSR1_ENST00000359791.1_Silent_p.R77R|NPSR1_ENST00000465305.1_Silent_p.R77R|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	77						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CATGGAGGAGAAAGAAGAAGT	0.428																																						.											0													157.0	150.0	152.0					7																	34724247		2203	4300	6503	SO:0001819	synonymous_variant	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.231A>G	7.37:g.34724247A>G			A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	CCDS5444.1																																																																																				0.428	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	G	A	rs372854651		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597																																						.											0								G		0,4028		0,0,2014	126.0	129.0	128.0		630	-2.7	1.0	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.630G>A	7.37:g.143748124G>A			B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
GLIS3	169792	broad.mit.edu	37	9	3856040	3856040	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:3856040A>G	ENST00000324333.10	-	8	2170	c.1977T>C	c.(1975-1977)tcT>tcC	p.S659S	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.S814S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	659					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTTGAAAAGAAGAGTTTGTTT	0.443																																						.											0													150.0	145.0	146.0					9																	3856040		2203	4300	6503	SO:0001819	synonymous_variant	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1977T>C	9.37:g.3856040A>G			B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																				0.443	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
HABP4	22927	broad.mit.edu	37	9	99227725	99227725	+	Missense_Mutation	SNP	G	G	T	rs375474752		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:99227725G>T	ENST00000375249.4	+	3	694	c.619G>T	c.(619-621)Gct>Tct	p.A207S	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGTTTTTGACGCTTTTGACCA	0.473																																						.											0													116.0	126.0	122.0					9																	99227725		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.619G>T	9.37:g.99227725G>T	ENSP00000364398:p.Ala207Ser			Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603304	0.14002	.	.	ENSG00000130956	ENST00000375249	T	0.28255	1.62	4.86	-0.806	0.10875	.	0.826723	0.11648	N	0.543070	T	0.08714	0.0216	N	0.01352	-0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.27773	-1.0064	10	0.31617	T	0.26	-0.1667	3.8665	0.09018	0.2946:0.0:0.436:0.2694	.	207	Q5JVS0	HABP4_HUMAN	S	207	ENSP00000364398:A207S	ENSP00000364398:A207S	A	+	1	0	HABP4	98267546	0.912000	0.30974	0.001000	0.08648	0.160000	0.22226	0.612000	0.24283	-0.228000	0.09869	-0.365000	0.07479	GCT		0.473	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282	
NUP188	23511	broad.mit.edu	37	9	131730829	131730829	+	Silent	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:131730829A>G	ENST00000372577.2	+	9	651	c.630A>G	c.(628-630)gaA>gaG	p.E210E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	210					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCTTCGGGAACAGTCCATGC	0.388																																						.											0													110.0	108.0	109.0					9																	131730829		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.630A>G	9.37:g.131730829A>G			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																				0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
RPGR	6103	broad.mit.edu	37	X	38145385	38145385	+	Intron	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:38145385delT	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Frame_Shift_Del_p.E956fs|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctcttccccctcccattctcc	0.617																																						.											0			GRCh37	CD070508	orf15	D							5.0	3.0	4.0					X																	38145385		1668	3072	4740	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+961A>-	X.37:g.38145385delT			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.617	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328	
SLC4A8	9498	broad.mit.edu	37	12	51868953	51868954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:51868953_51868954insA	ENST00000453097.2	+	16	2352_2353	c.2135_2136insA	c.(2134-2139)ttaaagfs	p.LK712fs	SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.LK739fs|SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.LK659fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.LK659fs	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAAGCACCTTAAAGACGTTTA	0.441																																						.											0																																										SO:0001589	frameshift_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2138dupA	12.37:g.51868956_51868956dupA	ENSP00000405812:p.Leu712fs			Frame_Shift_Ins	INS	ENST00000453097.2	37	CCDS44890.1																																																																																				0.441	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
ACVRL1	94	ucsc.edu	37	12	52306933	52306933	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:52306933A>G	ENST00000388922.4	+	3	395	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	ACVRL1_ENST00000550683.1_Missense_Mutation_p.S52G|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	38			S -> C. {ECO:0000269|PubMed:20414677}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACGTGTGAGAGCCCACATTG	0.682																																						.											0													16.0	19.0	18.0					12																	52306933		2202	4299	6501	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.112A>G	12.37:g.52306933A>G	ENSP00000373574:p.Ser38Gly		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	1.615	-0.523057	0.04141	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.97620	-4.46;-4.46;-4.46	5.76	0.823	0.18812	.	1.165910	0.06270	N	0.695557	D	0.87779	0.6263	N	0.01109	-1.01	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.80355	-0.1417	10	0.21014	T	0.42	.	7.4721	0.27355	0.6494:0.0:0.3506:0.0	.	38	P37023	ACVL1_HUMAN	G	38;38;52;52	ENSP00000373574:S38G;ENSP00000446724:S52G;ENSP00000447884:S52G	ENSP00000267008:S38G	S	+	1	0	ACVRL1	50593200	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.042000	0.13949	0.112000	0.17975	0.533000	0.62120	AGC		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		
C1orf27	54953	ucsc.edu	37	1	186388183	186388183	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:186388183T>C	ENST00000287859.6	+	14	1465	c.1340T>C	c.(1339-1341)aTc>aCc	p.I447T	C1orf27_ENST00000419367.3_Missense_Mutation_p.I415T|C1orf27_ENST00000461662.1_3'UTR|C1orf27_ENST00000432021.3_Missense_Mutation_p.I424T|C1orf27_ENST00000367470.3_Missense_Mutation_p.I424T	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	447						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GCTGCGGGTATCTCCTTTCAT	0.363																																						.											0													146.0	126.0	133.0					1																	186388183		1914	4127	6041	SO:0001583	missense	54953			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.1340T>C	1.37:g.186388183T>C	ENSP00000287859:p.Ile447Thr		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356748	0.41801	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000287859	T;T	0.51325	0.71;0.71	5.39	5.39	0.77823	.	0.553136	0.17798	N	0.161668	T	0.35970	0.0950	L	0.29908	0.895	0.34646	D	0.721136	P;B;B	0.36282	0.546;0.404;0.404	B;B;B	0.32980	0.156;0.109;0.156	T	0.54807	-0.8238	10	0.72032	D	0.01	-1.0242	11.7953	0.52096	0.0:0.0:0.0:1.0	.	415;424;447	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	T	424;415;447	ENSP00000395084:I415T;ENSP00000287859:I447T	ENSP00000287859:I447T	I	+	2	0	C1orf27	184654806	0.998000	0.40836	0.881000	0.34555	0.682000	0.39822	3.937000	0.56575	2.046000	0.60703	0.477000	0.44152	ATC		0.363	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847	
CIC	23152	ucsc.edu	37	19	42791707	42791707	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:42791707A>G	ENST00000575354.2	+	5	633	c.593A>G	c.(592-594)gAc>gGc	p.D198G	CIC_ENST00000572681.2_Missense_Mutation_p.D1107G|CIC_ENST00000160740.3_Missense_Mutation_p.D198G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGGAGAAGGACCACATCCGG	0.622			"""Mis, F, S"""		oligodendroglioma																																	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													68.0	73.0	71.0					19																	42791707		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.593A>G	19.37:g.42791707A>G	ENSP00000458663:p.Asp198Gly		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333647	0.60853	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);	.	.	.	.	T	0.61451	0.2348	N	0.26130	0.795	0.52099	D	0.999944	D	0.67145	0.996	D	0.68039	0.955	T	0.65586	-0.6132	8	0.87932	D	0	-18.5985	11.626	0.51145	1.0:0.0:0.0:0.0	.	198	Q96RK0	CIC_HUMAN	G	198	.	ENSP00000160740:D198G	D	+	2	0	CIC	47483547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.740000	0.74832	1.853000	0.53794	0.454000	0.30748	GAC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
DSP	1832	ucsc.edu	37	6	7572208	7572208	+	Missense_Mutation	SNP	A	A	G	rs151049942	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:7572208A>G	ENST00000379802.3	+	15	2378	c.2037A>G	c.(2035-2037)atA>atG	p.I679M	DSP_ENST00000418664.2_Missense_Mutation_p.I679M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	679	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCAGATAGAGCACTGCG	0.448													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.0					.											0								A	MET/ILE,MET/ILE	3,4403	6.2+/-15.9	0,3,2200	87.0	82.0	84.0		2037,2037	0.6	1.0	6	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	10,10	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign,benign	679/2273,679/2872	7572208	3,13003	2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2037A>G	6.37:g.7572208A>G	ENSP00000369129:p.Ile679Met		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784966	0.31593	6.81E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74632	-0.52;-0.86	5.58	0.632	0.17705	.	0.298544	0.33712	N	0.004626	T	0.32071	0.0817	N	0.14661	0.345	0.30376	N	0.782447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10941	-1.0608	10	0.52906	T	0.07	.	5.9683	0.19338	0.3601:0.0:0.5018:0.1381	.	726;679	Q4LE79;P15924	.;DESP_HUMAN	M	679;679;484	ENSP00000369129:I679M;ENSP00000396591:I679M	ENSP00000369129:I679M	I	+	3	3	DSP	7517207	0.987000	0.35691	0.998000	0.56505	0.962000	0.63368	-0.028000	0.12350	0.042000	0.15717	-0.472000	0.04984	ATA		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
HPSE2	60495	ucsc.edu	37	10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	358					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413																																						.											0													199.0	212.0	207.0					10																	100401630		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1072T>C	10.37:g.100401630A>G	ENSP00000359583:p.Ser358Pro		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194608	0.58017	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.063185	0.64402	D	0.000003	T	0.28863	0.0716	N	0.12182	0.205	0.58432	D	0.999991	P;P;P;P	0.47191	0.879;0.744;0.867;0.891	P;B;B;P	0.51193	0.662;0.341;0.439;0.575	T	0.06789	-1.0807	10	0.30078	T	0.28	-6.6273	16.3979	0.83621	1.0:0.0:0.0:0.0	.	246;358;300;358	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	P	358;300;358;246	ENSP00000359583:S358P;ENSP00000359580:S300P;ENSP00000359577:S358P;ENSP00000384384:S246P	ENSP00000359577:S358P	S	-	1	0	HPSE2	100391620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.333000	0.79357	0.533000	0.62120	TCT		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
SRSF2	6427	ucsc.edu	37	17	74733037	74733037	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:74733037T>C	ENST00000392485.2	-	1	378	c.206A>G	c.(205-207)gAg>gGg	p.E69G	MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.E69G|SRSF2_ENST00000359995.5_Missense_Mutation_p.E69G|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CATAGCGTCCTCAGCGTCGCG	0.692			Mis		"""MDS, CLL"""																																	.		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													31.0	36.0	34.0					17																	74733037		2201	4297	6498	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.206A>G	17.37:g.74733037T>C	ENSP00000376276:p.Glu69Gly		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088353	0.55968	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.19250	2.16;2.16;2.16	4.18	4.18	0.49190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060490	0.64402	D	0.000006	T	0.45657	0.1353	M	0.87827	2.91	0.80722	D	1	P;P	0.42692	0.787;0.787	P;P	0.54889	0.636;0.763	T	0.53165	-0.8477	10	0.72032	D	0.01	.	12.9011	0.58125	0.0:0.0:0.0:1.0	.	69;69	B4DN89;Q01130	.;SRSF2_HUMAN	G	69;69;96;57;69	ENSP00000391278:E69G;ENSP00000376276:E69G;ENSP00000353089:E69G	ENSP00000350877:E57G	E	-	2	0	SRSF2	72244632	1.000000	0.71417	0.965000	0.40720	0.703000	0.40648	7.527000	0.81931	1.530000	0.49136	0.379000	0.24179	GAG		0.692	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016	
ABCD1	215	mdanderson.org	37	X	153008476	153008476	+	Missense_Mutation	SNP	T	T	C	rs201774661		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTCCTGTCGGGTGGCGA	0.657																																						.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
ABCD1	215	mdanderson.org	37	X	153008483	153008483	+	Missense_Mutation	SNP	G	G	A	rs78993751		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:153008483G>A	ENST00000218104.3	+	8	2222	c.1823G>A	c.(1822-1824)gGc>gAc	p.G608D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	608	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> D (in ALD; CALD-type). {ECO:0000269|PubMed:11438993}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCGGGTGGCGAGAAGCAG	0.652																																						.											0			GRCh37	CM012040	ABCD1	M	rs78993751																																			SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1823G>A	X.37:g.153008483G>A	ENSP00000218104:p.Gly608Asp		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864716	0.91511	.	.	ENSG00000101986	ENST00000218104	D	0.99981	-10.31	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.99984	0.9995	H	0.98178	4.165	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	D	0.99264	1.0891	9	0.87932	D	0	-31.6285	17.0243	0.86441	0.0:0.0:1.0:0.0	.	608	P33897	ABCD1_HUMAN	D	608	ENSP00000218104:G608D	ENSP00000218104:G608D	G	+	2	0	ABCD1	152661677	1.000000	0.71417	0.632000	0.29296	0.808000	0.45660	9.405000	0.97313	2.283000	0.76528	0.429000	0.28392	GGC		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
ALPPL2	251	mdanderson.org	37	2	233271799	233271799	+	Missense_Mutation	SNP	C	C	G	rs146369944	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:233271799C>G	ENST00000295453.3	+	2	152	c.100C>G	c.(100-102)Cag>Gag	p.Q34E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	34			Q -> E (in dbSNP:rs1048983).		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTGGAACCGCCAGGCAGCCGA	0.642																																						.											0													63.0	78.0	73.0					2																	233271799		2203	4300	6503	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.100C>G	2.37:g.233271799C>G	ENSP00000295453:p.Gln34Glu		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.848184	0.00563	.	.	ENSG00000163286	ENST00000295453	T	0.37411	1.2	2.19	-0.276	0.12902	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.518247	0.21905	N	0.067388	T	0.33585	0.0868	M	0.84846	2.72	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.30119	-0.9989	10	0.36615	T	0.2	.	2.4239	0.04455	0.2975:0.4607:0.1215:0.1203	rs1048983;rs3189046	34	P10696	PPBN_HUMAN	E	34	ENSP00000295453:Q34E	ENSP00000295453:Q34E	Q	+	1	0	ALPPL2	232980043	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.050000	0.11904	-0.074000	0.12820	0.205000	0.17691	CAG		0.642	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
CACNA1H	8912	mdanderson.org	37	16	1268485	1268485	+	Silent	SNP	C	C	T	rs2738891	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:1268485C>T	ENST00000348261.5	+	33	5969	c.5721C>T	c.(5719-5721)ggC>ggT	p.G1907G	CACNA1H_ENST00000358590.4_Silent_p.G1901G|CACNA1H_ENST00000565831.1_Silent_p.G1901G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1907					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGAGTCCGGGCGCCAGGGACG	0.692													C|||	449	0.0896565	0.0113	0.0605	5008	,	,		14302	0.0317		0.1133	False		,,,				2504	0.2515					.											0								C	,	94,3926		0,94,1916	22.0	29.0	27.0		5703,5721	-3.0	0.0	16	dbSNP_100	27	969,7165		49,871,3147	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	49,965,5063	TT,TC,CC		11.913,2.3383,8.7461	,	1901/2348,1907/2354	1268485	1063,11091	2010	4067	6077	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5721C>T	16.37:g.1268485C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
GAS8	2622	mdanderson.org	37	16	90095582	90095582	+	Intron	SNP	T	T	C	rs62640380	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:90095582T>C	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.S57G|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcttacggggcag	0.662																																						.											0													20.0	20.0	20.0					16																	90095582		2195	4300	6495	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1452T>C	16.37:g.90095582T>C			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	t	1.231	-0.623993	0.03636	.	.	ENSG00000221819	ENST00000408886	T	0.48836	0.8	.	.	.	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.33266	-0.9875	3	.	.	.	.	.	.	.	.	65	O95177	CP003_HUMAN	G	57	ENSP00000386218:S57G	.	S	-	1	0	C16orf3	88623083	0.042000	0.20092	0.034000	0.17996	0.035000	0.12851	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	AGC		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
CAPN10	11132	mdanderson.org	37	2	241526428	241526428	+	Missense_Mutation	SNP	C	C	G	rs138005500	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr2:241526428C>G	ENST00000391984.2	+	1	296	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CAPN10_ENST00000354082.4_Missense_Mutation_p.L34V|CAPN10_ENST00000404753.3_Missense_Mutation_p.L34V|CAPN10_ENST00000391982.2_Missense_Mutation_p.L34V|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000270364.7_Missense_Mutation_p.L34V|CAPN10_ENST00000352879.4_Missense_Mutation_p.L34V	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	34	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTCTACGCCGCTGGCCCAGTT	0.726													C|||	18	0.00359425	0.0	0.0014	5008	,	,		11190	0.0		0.0169	False		,,,				2504	0.0					.											0								C	VAL/LEU,VAL/LEU	4,4070		0,4,2033	5.0	5.0	5.0		100,100	2.5	1.0	2	dbSNP_134	5	46,8054		0,46,4004	yes	missense,missense	CAPN10	NM_023083.3,NM_023085.3	32,32	0,50,6037	GG,GC,CC		0.5679,0.0982,0.4107	probably-damaging,probably-damaging	34/673,34/518	241526428	50,12124	2037	4050	6087	SO:0001583	missense	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.100C>G	2.37:g.241526428C>G	ENSP00000375844:p.Leu34Val		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	20	0.009157509157509158	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	17	0.022427440633245383	C	14.30	2.493770	0.44352	9.82E-4	0.005679	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000352879;ENST00000354082	T;T;T;T;T;T	0.42513	2.39;2.39;2.39;0.97;0.97;2.39	3.44	2.55	0.30701	Peptidase C2, calpain, catalytic domain (3);	0.273086	0.30704	N	0.009053	T	0.29491	0.0735	L	0.42581	1.335	0.41081	D	0.985527	D;P;D;D;P	0.69078	0.997;0.909;0.987;0.994;0.955	D;P;P;P;P	0.66196	0.942;0.455;0.735;0.904;0.843	T	0.24012	-1.0172	10	0.17369	T	0.5	.	6.6983	0.23211	0.0:0.8657:0.0:0.1343	.	34;34;34;34;34	B7Z6G3;Q9HC96-7;Q9HC96-8;Q9HC96-3;Q9HC96	.;.;.;.;CAN10_HUMAN	V	34	ENSP00000375844:L34V;ENSP00000375842:L34V;ENSP00000384422:L34V;ENSP00000270364:L34V;ENSP00000289381:L34V;ENSP00000270362:L34V	ENSP00000270361:L34V	L	+	1	2	CAPN10	241175101	0.818000	0.29161	1.000000	0.80357	0.952000	0.60782	1.288000	0.33296	0.655000	0.30866	0.655000	0.94253	CTG		0.726	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083	
COL5A3	50509	mdanderson.org	37	19	10077419	10077419	+	Missense_Mutation	SNP	C	C	G	rs3745584	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:10077419C>G	ENST00000264828.3	-	63	4547	c.4462G>C	c.(4462-4464)Gcc>Ccc	p.A1488P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1488	Collagen-like 6.|Triple-helical region.		A -> P (in dbSNP:rs3745584).		axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCGGCAGGGGCACCCTGGGCG	0.672													G|||	1834	0.366214	0.1392	0.3329	5008	,	,		12299	0.5337		0.3509	False		,,,				2504	0.5399					.											0								G	PRO/ALA	480,3178		43,394,1392	3.0	3.0	3.0		4462	2.0	0.4	19	dbSNP_107	3	2011,5393		291,1429,1982	yes	missense	COL5A3	NM_015719.3	27	334,1823,3374	GG,GC,CC		27.161,13.1219,22.5185	benign	1488/1746	10077419	2491,8571	1829	3702	5531	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4462G>C	19.37:g.10077419C>G	ENSP00000264828:p.Ala1488Pro		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	769	0.35210622710622713	68	0.13821138211382114	124	0.3425414364640884	313	0.5472027972027972	264	0.3482849604221636	G	0.046	-1.264850	0.01433	0.131219	0.27161	ENSG00000080573	ENST00000264828	D	0.88046	-2.33	4.18	2.01	0.26516	.	0.342020	0.26627	N	0.023334	T	0.00012	0.0000	N	0.02403	-0.565	0.45676	P	0.0014079999999999648	B	0.02656	0.0	B	0.01281	0.0	T	0.37454	-0.9705	9	0.02654	T	1	.	4.0727	0.09889	0.2249:0.1938:0.5813:0.0	rs3745584;rs61076096;rs3745584	1488	P25940	CO5A3_HUMAN	P	1488	ENSP00000264828:A1488P	ENSP00000264828:A1488P	A	-	1	0	COL5A3	9938419	0.322000	0.24634	0.402000	0.26371	0.167000	0.22549	0.127000	0.15790	0.080000	0.16959	-0.368000	0.07277	GCC		0.672	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
DDX12P	440081	mdanderson.org	37	12	9574020	9574020	+	IGR	SNP	T	T	C	rs200847155		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr12:9574020T>C								RP13-735L24.1 (23807 upstream) : SNORA75 (23633 downstream)														p.L672L(1)									ACGTGAATTCTAGCGGCTGGT	0.597																																						.											1	Substitution - coding silent(1)	endometrium(1)											53.0	57.0	55.0					12																	9574020		692	1591	2283	SO:0001628	intergenic_variant	440081																															12.37:g.9574020T>C				RNA	SNP		37																																																																																				0	0.597								
FRG1B	284802	mdanderson.org	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					.											2	Substitution - Missense(2)	urinary_tract(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GDF15	9518	mdanderson.org	37	19	18499238	18499238	+	Silent	SNP	G	G	T	rs1804826	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:18499238G>T	ENST00000252809.3	+	2	452	c.420G>T	c.(418-420)ccG>ccT	p.P140P	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	140					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TGACACGACCGCTGCGGCGTC	0.716											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1323	0.264177	0.1611	0.3573	5008	,	,		13438	0.4276		0.2475	False		,,,				2504	0.1861					.											0								G		677,3579		70,537,1521	10.0	12.0	12.0		420	-0.5	0.0	19	dbSNP_89	12	1879,6511		245,1389,2561	no	coding-synonymous	GDF15	NM_004864.2		315,1926,4082	TT,TG,GG		22.3957,15.907,20.2119		140/309	18499238	2556,10090	2128	4195	6323	SO:0001819	synonymous_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.420G>T	19.37:g.18499238G>T		726	O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																				0.716	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864	
GPR32	2854	mdanderson.org;bcgsc.ca	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	.											0													66.0	71.0	69.0					19																	51274851		2203	4298	6501	SO:0001583	missense	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1		
HLA-C	3107	mdanderson.org	37	6	31239049	31239049	+	Silent	SNP	G	G	T	rs1065406	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239049G>T	ENST00000376228.5	-	3	434	c.420C>A	c.(418-420)tcC>tcA	p.S140S	HLA-C_ENST00000383329.3_Silent_p.S140S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTCGTAGGCGGACTGGTCAT	0.706													g|||	270	0.0539137	0.0439	0.049	5008	,	,		13032	0.0377		0.0398	False		,,,				2504	0.1022					.											0													34.0	26.0	29.0					6																	31239049		2177	4252	6429	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.420C>A	6.37:g.31239049G>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	150	0.06868131868131869	32	0.06504065040650407	18	0.049723756906077346	57	0.09965034965034965	43	0.05672823218997362	.	5.915	0.352896	0.11182	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.59	-3.28	0.05033	.	.	.	.	.	T	0.07188	0.0182	.	.	.	0.24072	N	0.995975	.	.	.	.	.	.	T	0.34800	-0.9814	4	.	.	.	.	3.1816	0.06587	0.3131:0.0:0.2669:0.42	rs1065406;rs2308578;rs3176001;rs3180085;rs16868251;rs17840081	.	.	.	S	140	.	.	R	-	1	0	HLA-C	31347028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.910000	0.00699	-0.884000	0.03976	-1.236000	0.01555	CGC		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
HLA-C	3107	mdanderson.org	37	6	31239060	31239060	+	Missense_Mutation	SNP	A	A	G	rs2308574	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:31239060A>G	ENST00000376228.5	-	3	423	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y137H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	137	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GACTGGTCATACCCGCGGAGG	0.706													a|||	737	0.147165	0.2042	0.1124	5008	,	,		12690	0.119		0.0984	False		,,,				2504	0.1738					.											0													32.0	25.0	27.0					6																	31239060		2170	4230	6400	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.409T>C	6.37:g.31239060A>G	ENSP00000365402:p.Tyr137His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	449|449	0.20558608058608058|0.20558608058608058	107|107	0.21747967479674796|0.21747967479674796	75|75	0.20718232044198895|0.20718232044198895	137|137	0.2395104895104895|0.2395104895104895	130|130	0.17150395778364116|0.17150395778364116	.|.	8.863|8.863	0.947475|0.947475	0.18356|0.18356	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01051	.|5.4;5.4	2.81|2.81	1.59|1.59	0.23543|0.23543	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.528899	.|0.13774	.|U	.|0.363708	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.92923|0.92923	3.36|3.36	0.49299|0.49299	P|P	2.2599999999994846E-4|2.2599999999994846E-4	.|B;B;B;B	.|0.16396	.|0.017;0.002;0.002;0.004	.|B;B;B;B	.|0.31101	.|0.124;0.034;0.055;0.099	T|T	0.05683|0.05683	-1.0870|-1.0870	5|9	0.87932|0.56958	D|D	0|0.05	.|.	6.6067|6.6067	0.22729|0.22729	0.7862:0.0:0.0:0.2138|0.7862:0.0:0.0:0.2138	rs2308574;rs12721948;rs17839983|rs2308574;rs12721948;rs17839983	.|137;137;137;137	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	A|H	136|137;137;137;174	.|ENSP00000365402:Y137H;ENSP00000372819:Y137H	ENSP00000365412:V131A|ENSP00000365402:Y137H	V|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347039|31347039	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.006000|0.006000	0.05464|0.05464	0.709000|0.709000	0.25734|0.25734	0.458000|0.458000	0.26988|0.26988	0.254000|0.254000	0.18369|0.18369	GTA|TAT		0.706	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
JAG2	3714	mdanderson.org	37	14	105609335	105609335	+	Silent	SNP	A	A	G	rs10149229	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr14:105609335A>G	ENST00000331782.3	-	26	3817	c.3414T>C	c.(3412-3414)atT>atC	p.I1138I	JAG2_ENST00000347004.2_Silent_p.I1100I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1138					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCGGCCGCTCAATGGGGTTGC	0.726													G|||	3455	0.689896	0.8941	0.6571	5008	,	,		10693	0.5337		0.66	False		,,,				2504	0.6288					.											0								G	,	3661,665		1557,547,59	17.0	20.0	19.0		3414,3300	-1.2	1.0	14	dbSNP_119	19	5713,2733		1963,1787,473	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	3520,2334,532	GG,GA,AA		32.3585,15.3722,26.6051	,	1138/1239,1100/1201	105609335	9374,3398	2163	4223	6386	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3414T>C	14.37:g.105609335A>G			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																				0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
KANK2	25959	mdanderson.org	37	19	11303943	11303943	+	Silent	SNP	A	A	G	rs3745681	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:11303943A>G	ENST00000586659.1	-	4	1127	c.813T>C	c.(811-813)gtT>gtC	p.V271V	KANK2_ENST00000355150.5_Silent_p.V271V|KANK2_ENST00000432929.2_Silent_p.V271V|KANK2_ENST00000589894.1_Silent_p.V271V|KANK2_ENST00000589359.1_Silent_p.V271V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	271					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCGTTCTCGAACCCAGGTGC	0.692													G|||	2531	0.505391	0.6483	0.4265	5008	,	,		15958	0.4514		0.3787	False		,,,				2504	0.5542					.											0								G	,	2625,1773		791,1043,365	26.0	28.0	27.0		813,813	-2.5	0.9	19	dbSNP_107	27	3333,5259		652,2029,1615	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	1443,3072,1980	GG,GA,AA		38.7919,40.3138,45.8661	,	271/852,271/860	11303943	5958,7032	2199	4296	6495	SO:0001819	synonymous_variant	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.813T>C	19.37:g.11303943A>G			B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																				0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493	
KRTAP4-11	653240	mdanderson.org	37	17	39274311	39274311	+	Missense_Mutation	SNP	T	T	C	rs425755		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:39274311T>C	ENST00000391413.2	-	1	295	c.257A>G	c.(256-258)aAg>aGg	p.K86R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	86	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.K86R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCTTGCAGCAGCT	0.657																																						.											1	Substitution - Missense(1)	endometrium(1)																																								SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.257A>G	17.37:g.39274311T>C	ENSP00000375232:p.Lys86Arg		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.090	-1.168142	0.01660	.	.	ENSG00000212721	ENST00000391413	T	0.00591	6.35	4.25	-7.14	0.01527	.	.	.	.	.	T	0.00178	0.0005	N	0.01109	-1.01	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41215	-0.9521	8	0.10111	T	0.7	.	1.4913	0.02457	0.232:0.3447:0.0991:0.3242	rs425755	86	Q9BYQ6	KR411_HUMAN	R	86	ENSP00000375232:K86R	ENSP00000375232:K86R	K	-	2	0	KRTAP4-11	36527837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.427000	0.06999	-1.427000	0.01992	-2.307000	0.00257	AAG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
Unknown	0	mdanderson.org	37	1	13183530	13183530	+	IGR	SNP	A	A	G	rs200046163		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:13183530A>G								RP13-221M14.3 (19062 upstream) : PRAMEF26 (32825 downstream)																							TCCCGTTGAAAGCCATAGTCC	0.517																																						.											0													91.0	72.0	78.0					1																	13183530		692	1591	2283	SO:0001628	intergenic_variant	0																															1.37:g.13183530A>G				Missense_Mutation	SNP		37																																																																																				0	0.517								
MUC16	94025	mdanderson.org	37	19	9018476	9018476	+	Silent	SNP	G	G	A	rs112059772		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:9018476G>A	ENST00000397910.4	-	24	37901	c.37698C>T	c.(37696-37698)tcC>tcT	p.S12566S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12568	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAACTTCCTGGAGCCAGGGC	0.557																																						.											0																																										SO:0001819	synonymous_variant	94025			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.37698C>T	19.37:g.9018476G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9018479	9018479	+	Silent	SNP	G	G	T	rs111639147		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:9018479G>T	ENST00000397910.4	-	24	37898	c.37695C>A	c.(37693-37695)ggC>ggA	p.G12565G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12567	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCCTGGAGCCAGGGCGAT	0.552																																						.											0																																										SO:0001819	synonymous_variant	94025			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.37695C>A	19.37:g.9018479G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC4	4585	mdanderson.org	37	3	195510169	195510169	+	Missense_Mutation	SNP	G	G	A	rs201935809		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:195510169G>A	ENST00000463781.3	-	2	8741	c.8282C>T	c.(8281-8283)gCa>gTa	p.A2761V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2761V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.567																																						.											0													24.0	15.0	17.0					3																	195510169		683	1517	2200	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8282C>T	3.37:g.195510169G>A	ENSP00000417498:p.Ala2761Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.424	-0.572149	0.03882	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.56	1.02	-2.03	0.07365	.	.	.	.	.	T	0.09113	0.0225	N	0.02539	-0.55	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.23762	-1.0179	8	.	.	.	.	2.9503	0.05859	0.4276:0.2374:0.335:0.0	.	2633	E7ESK3	.	V	2761	ENSP00000417498:A2761V;ENSP00000420243:A2761V	.	A	-	2	0	MUC4	196994948	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-2.044000	0.01411	-1.669000	0.01470	-1.973000	0.00462	GCA		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195511534	195511534	+	Missense_Mutation	SNP	T	T	G	rs75459784	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:195511534T>G	ENST00000463781.3	-	2	7376	c.6917A>C	c.(6916-6918)cAt>cCt	p.H2306P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2306P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACATGAAGAGGGGT	0.582													.|||	198	0.0395367	0.1104	0.0072	5008	,	,		12445	0.0357		0.0099	False		,,,				2504	0.001					.											0													5.0	6.0	6.0					3																	195511534		506	1315	1821	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6917A>C	3.37:g.195511534T>G	ENSP00000417498:p.His2306Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	6.193	0.403778	0.11754	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.6	.	.	.	.	0.000000	0.25881	N	0.027698	T	0.07954	0.0199	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17531	-1.0366	8	.	.	.	.	5.4918	0.16781	0.0:0.0:0.6826:0.3174	.	2306	E7ESK3	.	P	2306	ENSP00000417498:H2306P;ENSP00000420243:H2306P	.	H	-	2	0	MUC4	196995929	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.426000	0.07008	-2.142000	0.00804	-2.418000	0.00219	CAT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
NFATC1	4772	mdanderson.org	37	18	77171061	77171061	+	Silent	SNP	T	T	G	rs2230112	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:77171061T>G	ENST00000427363.2	+	2	786	c.786T>G	c.(784-786)ccT>ccG	p.P262P	NFATC1_ENST00000318065.5_Silent_p.P249P|NFATC1_ENST00000592223.1_Silent_p.P249P|NFATC1_ENST00000586434.1_Silent_p.P249P|NFATC1_ENST00000587635.1_Silent_p.P262P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.P262P|NFATC1_ENST00000591814.1_Silent_p.P262P|NFATC1_ENST00000329101.4_Silent_p.P249P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.P262P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	262	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGCGTCCCCTTGCAACAAGA	0.721													G|||	2958	0.590655	0.1483	0.768	5008	,	,		13414	0.8562		0.7018	False		,,,				2504	0.6748				GBM(151;1210 2593 28719 45011)	.											0								G	,,,,	1124,3252		179,766,1243	14.0	16.0	15.0		786,747,,747,786	-1.8	0.1	18	dbSNP_98	15	5959,2571		2120,1719,426	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	2299,2485,1669	GG,GT,TT		30.1407,25.6856,45.1185	,,,,	262/826,249/931,,249/813,262/717	77171061	7083,5823	2188	4265	6453	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.786T>G	18.37:g.77171061T>G			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.721	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
POM121	9883	mdanderson.org	37	7	72419207	72419207	+	IGR	SNP	G	G	A	rs2353055	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:72419207G>A	ENST00000434423.2	+	0	3750				NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000395270.1_3'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTCACTCACGTCGGCATCTC	0.587													.|||	170	0.0339457	0.0688	0.0043	5008	,	,		18634	0.0585		0.003	False		,,,				2504	0.0143					.											0													64.0	59.0	61.0					7																	72419207		2202	4296	6498	SO:0001628	intergenic_variant	260294			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72419207G>A			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000434423.2	37																																																																																					0.587	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
PCDHA8	56140	mdanderson.org	37	5	140222641	140222641	+	Missense_Mutation	SNP	A	A	G	rs6580012	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140222641A>G	ENST00000531613.1	+	1	1735	c.1735A>G	c.(1735-1737)Aag>Gag	p.K579E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K579E|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	579			K -> E (in dbSNP:rs6580012).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCGAGCAAGCTGGTGCC	0.677													.|||	2882	0.575479	0.7345	0.562	5008	,	,		14758	0.5268		0.4911	False		,,,				2504	0.5072					.											0								G	,,,,,,,GLU/LYS,,,GLU/LYS	3133,1257		1169,795,231	52.0	57.0	55.0		,,,,,,,1735,,,1735	0.4	0.0	5	dbSNP_116	55	4023,4497		1149,1725,1386	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,56,,,56	2318,2520,1617	GG,GA,AA		47.2183,28.6333,44.5701	,,,,,,,,,,	,,,,,,,579/951,,,579/815	140222641	7156,5754	2195	4260	6455	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1735A>G	5.37:g.140222641A>G	ENSP00000434655:p.Lys579Glu		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	1207	0.5526556776556777	350	0.7113821138211383	184	0.5082872928176796	302	0.527972027972028	371	0.4894459102902375	G	1.084	-0.665977	0.03428	0.713667	0.472183	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19806	2.12;2.12	3.49	0.381	0.16228	Cadherin-like (1);	0.000000	0.36932	N	0.002335	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	9	0.02654	T	1	.	6.1288	0.20194	0.2432:0.4246:0.3322:0.0	rs6580012;rs17844319	579;579	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	579	ENSP00000434655:K579E;ENSP00000367363:K579E	ENSP00000367363:K579E	K	+	1	0	PCDHA8	140202825	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	1.550000	0.36223	-0.581000	0.05937	-0.665000	0.03846	AAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PKP3	11187	mdanderson.org	37	11	397063	397063	+	Missense_Mutation	SNP	C	C	A	rs113852684	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:397063C>A	ENST00000331563.2	+	3	638	c.562C>A	c.(562-564)Ccc>Acc	p.P188T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	188					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGCTGGGGCCCGGGGGCCT	0.711													g|||	50	0.00998403	0.0008	0.0187	5008	,	,		13907	0.0		0.0318	False		,,,				2504	0.0041					.											0									THR/PRO	23,4305		0,23,2141	21.0	26.0	24.0		562	-7.3	0.0	11	dbSNP_132	24	178,8328		2,174,4077	no	missense	PKP3	NM_007183.2	38	2,197,6218	AA,AC,CC		2.0926,0.5314,1.5662	benign	188/798	397063	201,12633	2164	4253	6417	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.562C>A	11.37:g.397063C>A	ENSP00000331678:p.Pro188Thr		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	CCDS7695.1	32	0.014652014652014652	0	0.0	12	0.03314917127071823	1	0.0017482517482517483	19	0.025065963060686015	g	0.001	-3.381430	0.00015	0.005314	0.020926	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80214	-1.35	3.66	-7.32	0.01436	.	2.113190	0.02807	N	0.123819	T	0.45915	0.1366	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.63804	-0.6554	10	0.17369	T	0.5	-0.6299	15.2	0.73130	0.0:0.3915:0.5262:0.0823	.	188	Q9Y446	PKP3_HUMAN	T	32;32;32;32;188;130	ENSP00000331678:P188T	ENSP00000331678:P188T	P	+	1	0	PKP3	387063	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-1.689000	0.01923	-5.013000	0.00024	-4.230000	0.00009	CCC		0.711	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183	
PSCA	8000	mdanderson.org	37	8	143763547	143763547	+	Silent	SNP	C	C	A	rs1045531	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr8:143763547C>A	ENST00000301258.4	+	3	425	c.342C>A	c.(340-342)ctC>ctA	p.L114L		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	123						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCGGCCAGCTCTAGGCTCTGG	0.706													A|||	2013	0.401957	0.354	0.5072	5008	,	,		13713	0.3423		0.4473	False		,,,				2504	0.407					.											0								A		1450,2534		293,864,835	13.0	15.0	14.0		342	1.4	0.3	8	dbSNP_86	14	3740,4612		857,2026,1293	no	coding-synonymous	PSCA	NM_005672.4		1150,2890,2128	AA,AC,CC		44.7797,36.3956,42.072		114/115	143763547	5190,7146	1992	4176	6168	SO:0001819	synonymous_variant	8000			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.342C>A	8.37:g.143763547C>A			Q6UW92	Silent	SNP	ENST00000301258.4	37	CCDS47925.2																																																																																				0.706	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672	
SHROOM3	57619	mdanderson.org	37	4	77662125	77662125	+	Silent	SNP	C	C	T	rs36036308	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr4:77662125C>T	ENST00000296043.6	+	5	3752	c.2799C>T	c.(2797-2799)tcC>tcT	p.S933S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	933	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACGCACAGTCCCGTGTCTTGG	0.721													C|||	187	0.0373403	0.031	0.0375	5008	,	,		11231	0.004		0.0895	False		,,,				2504	0.0266					.											0								C		133,4161		2,129,2016	9.0	10.0	10.0		2799	2.3	1.0	4	dbSNP_126	10	719,7635		31,657,3489	no	coding-synonymous	SHROOM3	NM_020859.3		33,786,5505	TT,TC,CC		8.6067,3.0973,6.7362		933/1997	77662125	852,11796	2147	4177	6324	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2799C>T	4.37:g.77662125C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																				0.721	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
SLC16A2	6567	mdanderson.org	37	X	73641569	73641569	+	Missense_Mutation	SNP	T	T	C	rs6647476		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:73641569T>C	ENST00000587091.1	+	1	274	c.97T>C	c.(97-99)Tct>Cct	p.S33P	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S107P	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	33					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	Agagccggagtctgagccgga	0.741													C|||	2506	0.663841	0.531	0.3084	3775	,	,		5534	0.7361		0.333	False		,,,				2504	0.5245					.											0								-	PRO/SER	2247,1352		641,640,325,282,148	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	319		0.1	X	dbSNP_116	6	2383,4050		356,1012,659,1004,1030	yes	missense	SLC16A2	NM_006517.3	74	997,1652,984,1286,1178	CC,CT,C,TT,T		37.0434,37.566,46.1523	possibly-damaging	107/614	73641569	4630,5402	2036	4061	6097	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.97T>C	X.37:g.73641569T>C	ENSP00000465734:p.Ser33Pro		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	1048	0.6317058468957203	190	0.5828220858895705	71	0.2305194805194805	278	0.9586206896551724	182	0.3063973063973064	C	0.001	-3.547578	0.00009	0.62434	0.370434	ENSG00000147100	ENST00000276033	T	0.69306	-0.39	.	.	.	.	0.660363	0.13427	N	0.388737	T	0.00012	0.0000	N	0.00419	-1.52	0.80722	P	0.0	P	0.47604	0.898	B	0.42959	0.403	T	0.50651	-0.8803	7	0.18710	T	0.47	.	.	.	.	rs6647476	33	P36021	MOT8_HUMAN	P	107	ENSP00000276033:S107P	ENSP00000276033:S107P	S	+	1	0	SLC16A2	73558294	0.057000	0.20700	0.097000	0.21041	0.047000	0.14425	-0.390000	0.07332	-0.420000	0.07427	0.000000	0.15137	TCT		0.741	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		
SNAPC4	6621	mdanderson.org	37	9	139272502	139272502	+	Silent	SNP	T	T	C	rs3812565	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr9:139272502T>C	ENST00000298532.2	-	21	4145	c.3777A>G	c.(3775-3777)ctA>ctG	p.L1259L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCTGGGGTAGGGGCGGCT	0.746													N|||	1642	0.327875	0.2935	0.5648	5008	,	,		12956	0.1885		0.3549	False		,,,				2504	0.3221					.											0										899,2601		168,563,1019	4.0	5.0	4.0		3777	-2.4	0.0	9	dbSNP_107	4	2448,4658		514,1420,1619	no	coding-synonymous	SNAPC4	NM_003086.2		682,1983,2638	CC,CT,TT		34.4498,25.6857,31.5576		1259/1470	139272502	3347,7259	1750	3553	5303	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3777A>G	9.37:g.139272502T>C				Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																				0.746	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
WWC3	55841	mdanderson.org	37	X	10085674	10085674	+	Silent	SNP	T	T	C	rs6530368	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chrX:10085674T>C	ENST00000380861.4	+	11	1966	c.1575T>C	c.(1573-1575)gaT>gaC	p.D525D	WWC3_ENST00000454666.1_Silent_p.D525D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	525					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCCCGGGGATGGGGAAGGGC	0.701													C|||	3621	0.959205	0.7572	0.7089	3775	,	,		10616	0.7579		0.663	False		,,,				2504	0.7127					.											0								C		3391,72		1436,59,460,0,13	6.0	6.0	6.0		1575	-8.5	0.0	X	dbSNP_116	6	5349,820		1737,497,1378,39,245	no	coding-synonymous	WWC3	NM_015691.3		3173,556,1838,39,258	CC,CT,C,TT,T		13.2923,2.0791,9.2608		525/1093	10085674	8740,892	1968	3896	5864	SO:0001819	synonymous_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1575T>C	X.37:g.10085674T>C			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.701	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
ZBTB7C	201501	mdanderson.org	37	18	45555829	45555829	+	Silent	SNP	T	T	C	rs7231151	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr18:45555829T>C	ENST00000588982.1	-	4	2163	c.1662A>G	c.(1660-1662)acA>acG	p.T554T	ZBTB7C_ENST00000535628.2_Silent_p.T554T|ZBTB7C_ENST00000332053.2_Silent_p.T554T|ZBTB7C_ENST00000586438.1_Silent_p.T554T|ZBTB7C_ENST00000590800.1_Silent_p.T554T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	554							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTTCATCTGTGTCTCCTCGA	0.721													C|||	2061	0.411542	0.562	0.366	5008	,	,		9999	0.4673		0.2594	False		,,,				2504	0.3395					.											0								C		2040,2344		497,1046,649	12.0	12.0	12.0		1662	0.5	1.0	18	dbSNP_116	12	2358,6186		325,1708,2239	no	coding-synonymous	ZBTB7C	NM_001039360.2		822,2754,2888	CC,CT,TT		27.5983,46.5328,34.0192		554/620	45555829	4398,8530	2192	4272	6464	SO:0001819	synonymous_variant	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1662A>G	18.37:g.45555829T>C			O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																				0.721	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
ZNF845	91664	mdanderson.org	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					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.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					.											3	Substitution - Missense(3)	kidney(3)											33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His			Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZSCAN20	7579	bcgsc.ca	37	1	33958892	33958892	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:33958892A>G	ENST00000361328.3	+	7	1703	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	517					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCCAGGTGTACCGGGCCATT	0.567																																						.											0													45.0	48.0	47.0					1																	33958892		2024	4195	6219	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1550A>G	1.37:g.33958892A>G	ENSP00000355053:p.Tyr517Cys		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005441	0.74932	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.7	5.7	0.88788	SANT domain, DNA binding (1);	0.000000	0.53938	D	0.000043	T	0.81964	0.4934	M	0.90082	3.085	0.42241	D	0.991931	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85761	0.1349	9	0.87932	D	0	-26.9717	12.6654	0.56840	1.0:0.0:0.0:0.0	.	516;517	P17040-3;P17040	.;ZSC20_HUMAN	C	517;451;451	.	ENSP00000324450:Y517C	Y	+	2	0	ZSCAN20	33731479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.791000	0.62460	2.308000	0.77769	0.533000	0.62120	TAC		0.567	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
KLHL12	59349	bcgsc.ca	37	1	202888918	202888918	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr1:202888918T>C	ENST00000367261.3	-	3	532	c.314A>G	c.(313-315)gAa>gGa	p.E105G	KLHL12_ENST00000435533.3_Missense_Mutation_p.E143G	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	105					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGAAGCAGTTCTTGTACATT	0.388																																						.											0													97.0	84.0	89.0					1																	202888918		2203	4300	6503	SO:0001583	missense	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.314A>G	1.37:g.202888918T>C	ENSP00000356230:p.Glu105Gly		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690626	0.68271	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.71341	-0.56;-0.56;-0.56	5.55	5.55	0.83447	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	N	0.14661	0.345	0.80722	D	1	B;D;D	0.62365	0.026;0.991;0.991	B;D;D	0.74023	0.036;0.982;0.982	T	0.70579	-0.4833	10	0.25106	T	0.35	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	143;143;105	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	G	105;143;143	ENSP00000356230:E105G;ENSP00000416886:E143G;ENSP00000356227:E143G	ENSP00000356227:E143G	E	-	2	0	KLHL12	201155541	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.040000	0.89188	2.235000	0.73313	0.460000	0.39030	GAA		0.388	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
DNHD1	144132	bcgsc.ca	37	11	6592054	6592054	+	Nonsense_Mutation	SNP	C	C	T	rs80197979	byFrequency	TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:6592054C>T	ENST00000527990.2	+	40	13312	c.13312C>T	c.(13312-13314)Cga>Tga	p.R4438*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R4438*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4438					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCGGAAAGGCGACTGCGGCA	0.637													C|||	14	0.00279553	0.0091	0.0029	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0					.											0								C	stop/ARG	15,4247		0,15,2116	32.0	38.0	36.0		13312	3.8	1.0	11	dbSNP_132	36	0,8474		0,0,4237	yes	stop-gained	DNHD1	NM_144666.2		0,15,6353	TT,TC,CC		0.0,0.3519,0.1178		4438/4754	6592054	15,12721	2131	4237	6368	SO:0001587	stop_gained	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13312C>T	11.37:g.6592054C>T	ENSP00000436180:p.Arg4438*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	56	25.341051	0.99964	0.003519	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	.	.	.	4.78	3.85	0.44370	.	0.363985	0.24105	N	0.041505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.986	10.3266	0.43796	0.1952:0.8047:0.0:0.0	.	.	.	.	X	4438;4438;706	.	ENSP00000254579:R4438X	R	+	1	2	DNHD1	6548630	0.705000	0.27846	0.996000	0.52242	0.324000	0.28378	0.828000	0.27435	1.199000	0.43173	0.563000	0.77884	CGA		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
USP28	57646	bcgsc.ca	37	11	113685956	113685956	+	Missense_Mutation	SNP	T	T	C	rs141617594		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr11:113685956T>C	ENST00000003302.4	-	14	1680	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	USP28_ENST00000545540.1_Missense_Mutation_p.I413V|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Missense_Mutation_p.I538V|USP28_ENST00000537706.1_Missense_Mutation_p.I538V|USP28_ENST00000544967.1_Missense_Mutation_p.I246V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	538	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAAAATTTATCTCCTCATCT	0.403																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	.											0								T	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	141.0	134.0	136.0		1612	6.0	1.0	11	dbSNP_134	136	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	29	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	538/1078	113685956	1,12993	2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1612A>G	11.37:g.113685956T>C	ENSP00000003302:p.Ile538Val		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700283	0.48307	2.27E-4	0.0	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.42900	1.61;1.61;1.02;1.61;0.96;1.99	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.357783	0.35739	N	0.003003	T	0.29355	0.0731	L	0.28192	0.835	0.27353	N	0.956183	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.09377	0.003;0.004;0.002;0.003	T	0.15178	-1.0446	10	0.49607	T	0.09	-3.0629	8.5621	0.33516	0.0:0.068:0.1317:0.8002	.	413;538;538;246	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	V	538;538;246;413;242;538	ENSP00000003302:I538V;ENSP00000260188:I538V;ENSP00000442431:I246V;ENSP00000444991:I413V;ENSP00000442257:I242V;ENSP00000445743:I538V	ENSP00000003302:I538V	I	-	1	0	USP28	113191166	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	3.302000	0.51849	2.285000	0.76669	0.477000	0.44152	ATA		0.403	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
GAS8	2622	bcgsc.ca	37	16	90095558	90095558	+	Intron	SNP	C	C	T	rs76646627		TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr16:90095558C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.G65S|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.G65S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcctacggggcag	0.672																																						.											1	Substitution - Missense(1)	lung(1)											25.0	20.0	21.0					16																	90095558		2191	4298	6489	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1428C>T	16.37:g.90095558C>T			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990885	0.18966	.	.	ENSG00000221819	ENST00000408886	T	0.57595	0.39	1.2	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	8	.	.	.	.	2.4936	0.04616	0.0:0.4385:0.3231:0.2384	.	73	O95177	CP003_HUMAN	S	65	ENSP00000386218:G65S	.	G	-	1	0	C16orf3	88623059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.145000	0.10265	-0.326000	0.08564	0.407000	0.27541	GGC		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
LLGL2	3993	bcgsc.ca	37	17	73566232	73566232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr17:73566232delT	ENST00000392550.3	+	15	1887	c.1770delT	c.(1768-1770)gttfs	p.V591fs	LLGL2_ENST00000577200.1_Frame_Shift_Del_p.V591fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.V591fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	591					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCCGGCTGTGGTCACCTCCT	0.672																																						.											0													32.0	26.0	28.0					17																	73566232		2189	4295	6484	SO:0001589	frameshift_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1770delT	17.37:g.73566232delT	ENSP00000376333:p.Val591fs		Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	
SGK2	10110	bcgsc.ca	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr20:42199308T>C	ENST00000341458.4	+	6	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_ENST00000426287.1_Missense_Mutation_p.F164L|SGK2_ENST00000373092.3_Missense_Mutation_p.F138L|SGK2_ENST00000373100.1_Missense_Mutation_p.F138L|SGK2_ENST00000423407.3_Missense_Mutation_p.F138L|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373077.1_Missense_Mutation_p.F137L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627																																						.											0													57.0	60.0	59.0					20																	42199308		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.592T>C	20.37:g.42199308T>C	ENSP00000340608:p.Phe198Leu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	T	34	5.328708	0.95733	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.92	4.92	0.64577	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	0.75243	0.3823	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77448	-0.2584	10	0.62326	D	0.03	.	14.235	0.65919	0.0:0.0:0.0:1.0	.	164;198;138	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	L	138;138;137;137;138;198;164	ENSP00000362192:F138L;ENSP00000362184:F138L;ENSP00000362168:F137L;ENSP00000396222:F137L;ENSP00000392795:F138L;ENSP00000340608:F198L;ENSP00000412214:F164L	ENSP00000340608:F198L	F	+	1	0	SGK2	41632722	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.860000	0.86993	2.148000	0.66965	0.533000	0.62120	TTC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
ZNF385D	79750	bcgsc.ca	37	3	21462711	21462711	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr3:21462711A>G	ENST00000281523.2	-	8	1701	c.1183T>C	c.(1183-1185)Tac>Cac	p.Y395H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAATTTAGTAAGGAGCAAAC	0.428																																						.											0													32.0	31.0	31.0					3																	21462711		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1183T>C	3.37:g.21462711A>G	ENSP00000281523:p.Tyr395His			Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117711	0.77323	.	.	ENSG00000151789	ENST00000281523	T	0.63913	-0.07	5.95	5.95	0.96441	.	0.060077	0.64402	D	0.000002	T	0.75140	0.3809	L	0.59436	1.845	0.58432	D	0.99999	D	0.76494	0.999	D	0.63597	0.916	T	0.77539	-0.2550	10	0.87932	D	0	-40.5365	16.4044	0.83654	1.0:0.0:0.0:0.0	.	395	Q9H6B1	Z385D_HUMAN	H	395	ENSP00000281523:Y395H	ENSP00000281523:Y395H	Y	-	1	0	ZNF385D	21437715	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.284000	0.95882	2.273000	0.75805	0.455000	0.32223	TAC		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
PCDHA10	56139	bcgsc.ca	37	5	140236871	140236871	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr5:140236871A>G	ENST00000307360.5	+	1	1238	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D413G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	413	Cadherin 4. {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)			AGCGCTCTGGACCGCGAGAGG	0.647																																						.											0													139.0	126.0	130.0					5																	140236871		2197	4274	6471	SO:0001583	missense	56139			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.1238A>G	5.37:g.140236871A>G	ENSP00000304234:p.Asp413Gly		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708210	0.48412	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.65178	-0.14;-0.14	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87144	0.6104	H	0.99117	4.435	0.44234	D	0.997076	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.975;1.0	D	0.91942	0.5564	9	0.87932	D	0	.	13.3507	0.60601	1.0:0.0:0.0:0.0	.	413;413;413	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	413	ENSP00000421030:D413G;ENSP00000304234:D413G	ENSP00000304234:D413G	D	+	2	0	PCDHA10	140217055	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	8.817000	0.91985	1.790000	0.52503	0.454000	0.30748	GAC		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
MAP3K4	4216	bcgsc.ca	37	6	161527702	161527702	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr6:161527702A>G	ENST00000392142.4	+	20	4161	c.4013A>G	c.(4012-4014)aAg>aGg	p.K1338R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1334R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1284R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1288R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1338					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGCTTGAGGAAGGTGACCTTC	0.383																																						.											0													153.0	142.0	146.0					6																	161527702		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4013A>G	6.37:g.161527702A>G	ENSP00000375986:p.Lys1338Arg		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956002	0.53293	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72167	-0.58;-0.62;-0.63;-0.58	4.61	4.61	0.57282	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;D	0.56746	0.342;0.014;0.971;0.977	P;B;P;P	0.61477	0.565;0.026;0.889;0.844	T	0.58691	-0.7592	10	0.16420	T	0.52	-31.0922	14.0342	0.64636	1.0:0.0:0.0:0.0	.	1334;274;1288;1338	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1288;1338;1288;1334;1284	ENSP00000355886:K1288R;ENSP00000375986:K1338R;ENSP00000355887:K1334R;ENSP00000297332:K1284R	ENSP00000297332:K1284R	K	+	2	0	MAP3K4	161447692	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.962000	0.93254	1.711000	0.51337	0.477000	0.44152	AAG		0.383	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
DNAH11	8701	bcgsc.ca	37	7	21904163	21904166	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	AGAA	AGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr7:21904163_21904166delAGAA	ENST00000409508.3	+	70	11415_11418	c.11384_11387delAGAA	c.(11383-11388)aagaagfs	p.KK3795fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.KK3802fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3802					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTTGTTGAGAAAGAAAGAGATA	0.382									Kartagener syndrome																													.											0																																										SO:0001589	frameshift_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11384_11387delAGAA	7.37:g.21904163_21904166delAGAA	ENSP00000475939:p.Lys3795fs		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37																																																																																					0.382	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
JMJD1C	221037	bcgsc.ca	37	10	64957253	64957254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8424-01A-11D-2310-10	TCGA-KN-8424-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	1e8ae8dd-74c1-44d5-a74e-bfdce801c736	5e382ff9-b2b7-49ea-9ae5-b1ae7ab5b910	g.chr10:64957253_64957254insA	ENST00000399262.2	-	13	5779_5780	c.5561_5562insT	c.(5560-5562)tttfs	p.F1854fs	JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.F1672fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.F1635fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1854					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTGAATGTTAAACAATGTTGC	0.386																																						.											0																																										SO:0001589	frameshift_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5563dupT	10.37:g.64957255_64957255dupA	ENSP00000382204:p.Phe1854fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Ins	INS	ENST00000399262.2	37	CCDS41532.1																																																																																				0.386	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
