#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
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	89693003	89693003	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:89693003A>T	ENST00000371953.3	+	5	1844	c.487A>T	c.(487-489)Aaa>Taa	p.K163*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	163	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCAGAGACAAAAAGGTAAG	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Nonsense(2)	prostate(17)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											49.0	51.0	50.0					10																	89693003		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.487A>T	10.37:g.89693003A>T	ENSP00000361021:p.Lys163*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	48	14.499243	0.99798	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3599	14.8682	0.70434	1.0:0.0:0.0:0.0	.	.	.	.	X	163	.	.	K	+	1	0	PTEN	89682983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	AAA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
C10orf12	26148	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	98743653	98743653	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:98743653A>G	ENST00000286067.2	+	1	2613	c.2506A>G	c.(2506-2508)Aaa>Gaa	p.K836E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	836										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGATAAACTGAAAGAGATTTG	0.413																																						.											0													71.0	68.0	69.0					10																	98743653		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2506A>G	10.37:g.98743653A>G	ENSP00000286067:p.Lys836Glu		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601386	0.46423	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08720	3.06	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000074	T	0.24005	0.0581	L	0.45581	1.43	0.40968	D	0.984676	D	0.89917	1.0	D	0.79784	0.993	T	0.00385	-1.1773	10	0.66056	D	0.02	-14.5334	16.4216	0.83760	1.0:0.0:0.0:0.0	.	836	Q8N655	CJ012_HUMAN	E	836;670	ENSP00000286067:K836E	ENSP00000286067:K836E	K	+	1	0	C10orf12	98733643	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.944000	0.75940	2.285000	0.76669	0.533000	0.62120	AAA		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
YAP1	10413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102098274	102098274	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:102098274C>A	ENST00000282441.5	+	8	1626	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	YAP1_ENST00000345877.2_Missense_Mutation_p.P363Q|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.P401Q|YAP1_ENST00000526343.1_Missense_Mutation_p.P359Q|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000524575.1_Missense_Mutation_p.P235Q|YAP1_ENST00000531439.1_Missense_Mutation_p.P397Q	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	413	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CCTCGAACCCCAGATGACTTC	0.448																																					Colon(50;247 1103 7861 28956)	.											0													190.0	139.0	157.0					11																	102098274		2203	4299	6502	SO:0001583	missense	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1238C>A	11.37:g.102098274C>A	ENSP00000282441:p.Pro413Gln		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054360|4.054360	0.75960|0.75960	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.66638|.	-0.19;-0.22;-0.05|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76083|0.76083	0.3938|0.3938	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.991;0.999;0.997;0.994;0.998;0.999|.	T|T	0.75519|0.75519	-0.3289|-0.3289	10|5	0.87932|.	D|.	0|.	.|.	18.9673|18.9673	0.92701|0.92701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;330;359;397;413;363|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	Q|K	359;413;401;363;330;397;235|167	ENSP00000434134:P359Q;ENSP00000331023:P363Q;ENSP00000435602:P235Q|.	ENSP00000282441:P413Q|.	P|Q	+|+	2|1	0|0	YAP1|YAP1	101603484|101603484	1.000000|1.000000	0.71417|0.71417	0.839000|0.839000	0.33178|0.33178	0.456000|0.456000	0.32438|0.32438	7.461000|7.461000	0.80834|0.80834	2.492000|2.492000	0.84095|0.84095	0.650000|0.650000	0.86243|0.86243	CCA|CAG		0.448	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106	
CD5	921	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	60886402	60886402	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:60886402C>G	ENST00000347785.3	+	4	582	c.416C>G	c.(415-417)aCa>aGa	p.T139R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	139					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGAAGACAACACCTCCAACG	0.597																																						.											0													129.0	112.0	118.0					11																	60886402		2202	4299	6501	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.416C>G	11.37:g.60886402C>G	ENSP00000342681:p.Thr139Arg		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872797	0.17322	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.28666	1.6;1.6	4.43	3.51	0.40186	Speract/scavenger receptor-related (1);	0.670897	0.13065	N	0.416574	T	0.31702	0.0805	M	0.68317	2.08	0.09310	N	1	B	0.23316	0.083	B	0.15870	0.014	T	0.17653	-1.0362	10	0.42905	T	0.14	-0.064	10.4904	0.44748	0.0:0.8029:0.1971:0.0	.	139	P06127	CD5_HUMAN	R	139	ENSP00000342681:T139R;ENSP00000440899:T139R	ENSP00000342681:T139R	T	+	2	0	CD5	60642978	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.428000	0.21395	1.198000	0.43158	-0.233000	0.12211	ACA		0.597	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
DDI1	414301	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	103908145	103908145	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:103908145C>T	ENST00000302259.3	+	1	838	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	199							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGAGGCTTCGTCTCTACAC	0.512																																						.											0													63.0	70.0	67.0					11																	103908145		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.595C>T	11.37:g.103908145C>T	ENSP00000302805:p.Arg199Cys		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399903	0.25291	.	.	ENSG00000170967	ENST00000302259	T	0.26373	1.74	5.02	4.11	0.48088	.	0.178859	0.47455	N	0.000226	T	0.50154	0.1599	M	0.84326	2.69	0.09310	N	0.999997	D	0.89917	1.0	D	0.65874	0.939	T	0.46414	-0.9193	10	0.66056	D	0.02	-26.6368	11.8166	0.52214	0.0:0.9145:0.0:0.0855	.	199	Q8WTU0	DDI1_HUMAN	C	199	ENSP00000302805:R199C	ENSP00000302805:R199C	R	+	1	0	DDI1	103413355	0.845000	0.29573	0.014000	0.15608	0.012000	0.07955	2.207000	0.42788	1.502000	0.48669	-0.126000	0.14955	CGT		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	214171243	214171243	+	Silent	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:214171243T>A	ENST00000366958.4	+	2	1973	c.1365T>A	c.(1363-1365)ccT>ccA	p.P455P	PROX1_ENST00000435016.1_Silent_p.P455P|PROX1_ENST00000498508.2_Silent_p.P455P|PROX1_ENST00000261454.4_Silent_p.P455P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	455				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTCCGGCCCTGCCGCTGGCG	0.637																																						.											0													61.0	74.0	69.0					1																	214171243		2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1365T>A	1.37:g.214171243T>A			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
E2F7	144455	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	77419483	77419483	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:77419483G>A	ENST00000322886.7	-	12	2655	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	807					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGGGAGTGTGGACGACTTTGG	0.537																																						.											0													148.0	132.0	137.0					12																	77419483		2203	4300	6503	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2420C>T	12.37:g.77419483G>A	ENSP00000323246:p.Ser807Phe		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145117	0.37825	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.22336	1.96	5.91	5.03	0.67393	.	0.134260	0.51477	D	0.000082	T	0.15912	0.0383	N	0.19112	0.55	0.47511	D	0.999448	P	0.44627	0.839	B	0.41723	0.365	T	0.02676	-1.1125	10	0.62326	D	0.03	-5.9471	12.4126	0.55476	0.0769:0.0:0.9231:0.0	.	807	Q96AV8	E2F7_HUMAN	F	807;278	ENSP00000323246:S807F	ENSP00000323246:S807F	S	-	2	0	E2F7	75943614	0.950000	0.32346	0.031000	0.17742	0.913000	0.54294	4.727000	0.61993	1.524000	0.49035	0.650000	0.86243	TCC		0.537	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
PRDM16	63976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	3328864	3328864	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:3328864G>C	ENST00000270722.5	+	9	2152	c.2103G>C	c.(2101-2103)gaG>gaC	p.E701D	PRDM16_ENST00000378398.3_Missense_Mutation_p.E702D|PRDM16_ENST00000378391.2_Missense_Mutation_p.E701D|PRDM16_ENST00000514189.1_Missense_Mutation_p.E702D|PRDM16_ENST00000442529.2_Missense_Mutation_p.E701D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.E702D|PRDM16_ENST00000441472.2_Missense_Mutation_p.E701D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	701	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATTGCCGAGAAGTACTTTG	0.627			T	EVI1	"""MDS, AML"""																																	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													63.0	77.0	73.0					1																	3328864		2059	4188	6247	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2103G>C	1.37:g.3328864G>C	ENSP00000270722:p.Glu701Asp		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344267	0.61073	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.08896	3.06;3.07;3.08;3.07;3.06;3.1;3.08;3.04;3.04	4.94	4.02	0.46733	.	0.000000	0.51477	U	0.000094	T	0.25121	0.0610	M	0.65975	2.015	0.48341	D	0.999638	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	D;D;D;D	0.79784	0.978;0.993;0.974;0.984	T	0.00875	-1.1531	10	0.40728	T	0.16	.	13.4634	0.61239	0.0765:0.0:0.9235:0.0	.	701;701;701;701	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	702;702;701;701;701;702;701;517;517;510	ENSP00000426975:E702D;ENSP00000367651:E702D;ENSP00000407968:E701D;ENSP00000405253:E701D;ENSP00000367643:E701D;ENSP00000421400:E702D;ENSP00000270722:E701D;ENSP00000422504:E517D;ENSP00000425796:E510D	ENSP00000270722:E701D	E	+	3	2	PRDM16	3318724	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.613000	0.46351	1.214000	0.43395	0.590000	0.80494	GAG		0.627	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
SERTM1	400120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	13	37269302	37269302	+	Silent	SNP	G	G	A	rs202230256		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:37269302G>A	ENST00000315190.3	+	2	533	c.87G>A	c.(85-87)acG>acA	p.T29T		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	29						integral component of membrane (GO:0016021)											CCCTGTCCACGTCAGTGGACC	0.478																																						.											0													201.0	175.0	183.0					13																	37269302		2203	4300	6503	SO:0001819	synonymous_variant	400120				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.87G>A	13.37:g.37269302G>A			Q8N469	Silent	SNP	ENST00000315190.3	37	CCDS9358.1																																																																																				0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	45513838	45513838	+	Splice_Site	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:45513838G>T	ENST00000361577.3	+	13	4133	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	FAM179B_ENST00000361462.2_Splice_Site_p.V1307L|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1307										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTTTTTAGGTGAAAAATTT	0.303																																						.											0													47.0	49.0	49.0					14																	45513838		2202	4300	6502	SO:0001630	splice_region_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3919-1G>T	14.37:g.45513838G>T			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726304	0.89298	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.52754	0.65;0.65	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.966;0.994	D;D	0.70227	0.921;0.968	T	0.68258	-0.5456	9	.	.	.	-12.751	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1307;1307	G3XAE9;Q9Y4F4	.;F179B_HUMAN	L	1307	ENSP00000355045:V1307L;ENSP00000354917:V1307L	.	V	+	1	0	FAM179B	44583588	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.540000	0.98080	2.730000	0.93505	0.650000	0.86243	GTG		0.303	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	Missense_Mutation
C14orf166	51637	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	52458098	52458098	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:52458098T>C	ENST00000261700.3	+	2	290	c.125T>C	c.(124-126)aTt>aCt	p.I42T	C14orf166_ENST00000556760.1_Missense_Mutation_p.I42T	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	42					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					CACTACAAGATTGAAGACAGA	0.348																																						.											0													78.0	78.0	78.0					14																	52458098		2203	4300	6503	SO:0001583	missense	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.125T>C	14.37:g.52458098T>C	ENSP00000261700:p.Ile42Thr			Missense_Mutation	SNP	ENST00000261700.3	37	CCDS9705.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331063	0.81690	.	.	ENSG00000087302	ENST00000261700;ENST00000556760	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82348	-0.0502	9	0.41790	T	0.15	-6.0145	14.4684	0.67499	0.0:0.0:0.0:1.0	.	42	Q9Y224	CN166_HUMAN	T	42	.	ENSP00000261700:I42T	I	+	2	0	C14orf166	51527848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.701000	0.84566	1.967000	0.57214	0.397000	0.26171	ATT		0.348	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039	
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	91044471	91044471	+	Silent	SNP	G	G	A	rs538193691		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:91044471G>A	ENST00000328459.6	-	19	2410	c.2289C>T	c.(2287-2289)caC>caT	p.H763H	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.H780H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	763										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGCTCTTCACGTGGGTGGGGC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18196	0.0		0.001	False		,,,				2504	0.0					.											0													62.0	56.0	58.0					14																	91044471		2202	4300	6502	SO:0001819	synonymous_variant	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2289C>T	14.37:g.91044471G>A			Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348527	0.24426	.	.	ENSG00000165914	ENST00000557292	.	.	.	5.48	-0.267	0.12938	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50625	-0.8806	4	.	.	.	-21.5179	9.901	0.41348	0.6406:0.0:0.3594:0.0	.	.	.	.	C	191	.	.	R	-	1	0	TTC7B	90114224	0.942000	0.31987	0.998000	0.56505	0.996000	0.88848	0.041000	0.13927	0.030000	0.15379	-0.140000	0.14226	CGT		0.637	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2		
EXD1	161829	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	41501706	41501706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:41501706C>T	ENST00000314992.5	-	5	543	c.353G>A	c.(352-354)tGg>tAg	p.W118*	EXD1_ENST00000458580.2_Nonsense_Mutation_p.W176*	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	118	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CACCTGCAGCCAGCACAGTTT	0.368																																						.											0													60.0	56.0	57.0					15																	41501706		2203	4300	6503	SO:0001587	stop_gained	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.353G>A	15.37:g.41501706C>T	ENSP00000321029:p.Trp118*		A8K909|B7Z839|Q6ZW94	Nonsense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874195	0.97055	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-19.3436	15.148	0.72674	0.0:1.0:0.0:0.0	.	.	.	.	X	118;176	.	ENSP00000321029:W118X	W	-	2	0	EXD1	39288998	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.658000	0.61497	2.642000	0.89623	0.591000	0.81541	TGG		0.368	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	53493465	53493465	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:53493465C>T	ENST00000262133.6	+	9	1419	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R212C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	428	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGCTTGAGTCGTCTTCACAC	0.458																																						.											0													95.0	83.0	87.0					16																	53493465		2198	4300	6498	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1282C>T	16.37:g.53493465C>T	ENSP00000262133:p.Arg428Cys		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410944	0.83340	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.88509	-2.39;-2.39;-2.39	6.04	6.04	0.98038	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.982;0.95	D	0.94740	0.7918	10	0.87932	D	0	-15.4524	20.5948	0.99439	0.0:1.0:0.0:0.0	.	212;428;138;428	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	C	428;354;138;212	ENSP00000262133:R428C;ENSP00000443744:R354C;ENSP00000444685:R212C	ENSP00000262133:R428C	R	+	1	0	RBL2	52050966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.873000	0.98535	0.563000	0.77884	CGT		0.458	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
KRT32	3882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	39623194	39623194	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39623194G>A	ENST00000225899.3	-	1	487	c.384C>T	c.(382-384)atC>atT	p.I128I	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	128	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGGCCTCTTGGATCCTGCTCT	0.582																																						.											0													111.0	98.0	102.0					17																	39623194		2203	4300	6503	SO:0001819	synonymous_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.384C>T	17.37:g.39623194G>A				Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.582	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)	GTTGTTTTCAGGAAGTCTGAA	0.617		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"""	15	Whole gene deletion(8)|Deletion - Frameshift(7)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42.0	42.0	42.0					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	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.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ACLY	47	hgsc.bcm.edu;ucsc.edu	37	17	40049426	40049426	+	Splice_Site	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:40049426T>C	ENST00000352035.2	-	15	1591	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	ACLY_ENST00000353196.1_Splice_Site_p.G477G|ACLY_ENST00000537919.1_Splice_Site_p.G216G|ACLY_ENST00000590151.1_Splice_Site_p.G487G|ACLY_ENST00000393896.2_Splice_Site_p.G477G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	487					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTGCTCTTTCCTGGTGGGC	0.627																																					Colon(64;807 1396 15971 30971)	.											0													82.0	77.0	79.0					17																	40049426		2203	4300	6503	SO:0001630	splice_region_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1460-1A>G	17.37:g.40049426T>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																				0.627	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Silent
CPAMD8	27151	hgsc.bcm.edu;ucsc.edu	37	19	17088187	17088187	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:17088187G>A	ENST00000443236.1	-	15	1921	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCT	0.612																																						.											0													88.0	90.0	89.0					19																	17088187		1970	4144	6114	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1890C>T	19.37:g.17088187G>A			Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	g	0.634	-0.815901	0.02776	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.78	-2.91	0.05631	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49781	-0.8903	4	.	.	.	.	9.1401	0.36899	0.7257:0.0:0.2743:0.0	.	.	.	.	L	641	.	.	S	-	2	0	CPAMD8	16949187	0.999000	0.42202	0.465000	0.27155	0.150000	0.21749	0.664000	0.25068	-0.662000	0.05338	-0.963000	0.02626	TCG		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
RYR1	6261	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	38946146	38946146	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:38946146C>G	ENST00000359596.3	+	15	1632	c.1632C>G	c.(1630-1632)gaC>gaG	p.D544E	RYR1_ENST00000360985.3_Missense_Mutation_p.D544E|RYR1_ENST00000355481.4_Missense_Mutation_p.D544E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	544			D -> Y (in MHS1). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAACTTGGACTGGCTGGTCA	0.597																																						.											0													89.0	81.0	84.0					19																	38946146		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1632C>G	19.37:g.38946146C>G	ENSP00000352608:p.Asp544Glu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452398	0.43531	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.89270	-2.49;-2.49;-2.49	4.01	0.592	0.17471	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000001	D	0.93347	0.7879	M	0.86573	2.825	0.36063	D	0.841576	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92377	0.5910	10	0.87932	D	0	.	7.3077	0.26457	0.0:0.3696:0.0:0.6304	.	544;544	P21817-2;P21817	.;RYR1_HUMAN	E	544	ENSP00000352608:D544E;ENSP00000347667:D544E;ENSP00000354254:D544E	ENSP00000347667:D544E	D	+	3	2	RYR1	43637986	0.980000	0.34600	0.999000	0.59377	0.992000	0.81027	0.231000	0.17872	0.006000	0.14734	0.407000	0.27541	GAC		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
NFKBIB	4793	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	39398202	39398202	+	Missense_Mutation	SNP	G	G	A	rs557957478		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:39398202G>A	ENST00000313582.5	+	5	906	c.872G>A	c.(871-873)cGc>cAc	p.R291H	NFKBIB_ENST00000392079.3_Missense_Mutation_p.R259H|NFKBIB_ENST00000572515.1_Missense_Mutation_p.R291H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	291					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATCCTCGCCCGCCTCCTCCGT	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		15579	0.0		0.001	False		,,,				2504	0.0				Pancreas(165;1492 2005 6979 7739 34483)	.											0													20.0	21.0	21.0					19																	39398202		2191	4278	6469	SO:0001583	missense	4793			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.872G>A	19.37:g.39398202G>A	ENSP00000312988:p.Arg291His		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371349	0.42003	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.65549	-0.16;-0.16	4.9	3.87	0.44632	Ankyrin repeat-containing domain (4);	0.255015	0.28296	N	0.015872	T	0.55986	0.1955	L	0.61387	1.9	0.31726	N	0.637663	B;B;B	0.13145	0.004;0.007;0.004	B;B;B	0.12837	0.005;0.008;0.005	T	0.62445	-0.6853	10	0.87932	D	0	-12.6474	7.3513	0.26693	0.1908:0.0:0.8092:0.0	.	314;259;291	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	H	314;291;259	ENSP00000312988:R291H;ENSP00000375929:R259H	ENSP00000312988:R291H	R	+	2	0	NFKBIB	44090042	0.454000	0.25728	0.998000	0.56505	0.846000	0.48090	0.616000	0.24344	1.299000	0.44798	-0.229000	0.12294	CGC		0.706	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503	
ZNF45	7596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	44418134	44418134	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:44418134G>C	ENST00000269973.5	-	10	2544	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S485*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	485					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S485*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTAAGATCTGAGCTCCGACT	0.502																																						.											1	Substitution - Nonsense(1)	lung(1)											60.0	60.0	60.0					19																	44418134		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1454C>G	19.37:g.44418134G>C	ENSP00000269973:p.Ser485*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.410211|12.410211	0.99665|0.99665	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.30704	.|N	.|0.009053	T|.	0.65595|.	0.2706|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68834|.	-0.5304|.	5|.	0.72032|0.62326	D|D	0.01|0.03	-6.1441|-6.1441	10.5424|10.5424	0.45041|0.45041	0.0:0.0:0.8058:0.1942|0.0:0.0:0.8058:0.1942	.|.	.|.	.|.	.|.	E|X	485|485	.|.	ENSP00000367176:Q485E|ENSP00000269973:S485X	Q|S	-|-	1|2	0|0	ZNF45|ZNF45	49109974|49109974	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.889000|0.889000	0.28282|0.28282	2.030000|2.030000	0.59900|0.59900	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.502	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425	
LILRA6	79168	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	54744177	54744177	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:54744177T>A	ENST00000396365.2	-	6	1270	c.1231A>T	c.(1231-1233)Agt>Tgt	p.S411C	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S411C|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.S411C	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	411					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGGCTCACTGGGGAAAGAC	0.637																																						.											0													90.0	128.0	115.0					19																	54744177		2197	4300	6497	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1231A>T	19.37:g.54744177T>A	ENSP00000379651:p.Ser411Cys			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811295	0.50527	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.01527	4.8;4.8;4.8	2.71	2.71	0.32032	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000622	T	0.13500	0.0327	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.00239	-1.1888	10	0.87932	D	0	.	7.1498	0.25604	0.0:0.0:0.0:1.0	.	411;411;411	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	C	411	ENSP00000411227:S411C;ENSP00000379651:S411C;ENSP00000245621:S411C	ENSP00000245621:S411C	S	-	1	0	LILRA6	59435989	0.876000	0.30132	0.840000	0.33206	0.013000	0.08279	0.730000	0.26043	1.263000	0.44181	0.164000	0.16699	AGT		0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
MYLK2	85366	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	30408125	30408125	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:30408125C>T	ENST00000375994.2	+	2	522	c.249C>T	c.(247-249)ggC>ggT	p.G83G	MYLK2_ENST00000375985.4_Silent_p.G83G			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	83					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGACAGGGGCGGGGGGCCCG	0.662																																						.											0													21.0	25.0	23.0					20																	30408125		2191	4271	6462	SO:0001819	synonymous_variant	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.249C>T	20.37:g.30408125C>T			Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.662	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	
BPIFB3	359710	hgsc.bcm.edu;mdanderson.org	37	20	31657702	31657702	+	Silent	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:31657702T>A	ENST00000375494.3	+	11	1158	c.1158T>A	c.(1156-1158)acT>acA	p.T386T		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	386					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGGTCATGACTGTGCGTGCCC	0.577																																						.											0													251.0	227.0	235.0					20																	31657702		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1158T>A	20.37:g.31657702T>A			Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
DIDO1	11083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	61513562	61513562	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:61513562G>C	ENST00000266070.4	-	16	4071	c.3746C>G	c.(3745-3747)gCa>gGa	p.A1249G	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1249G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1249					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGCCGCGTCTGCAGAGCAGAG	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											0													87.0	99.0	95.0					20																	61513562		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3746C>G	20.37:g.61513562G>C	ENSP00000266070:p.Ala1249Gly		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	4.977	0.181425	0.09495	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08370	3.1;3.1	5.22	0.891	0.19224	.	1.466600	0.05113	N	0.489227	T	0.04363	0.0120	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40961	-0.9535	10	0.11485	T	0.65	-6.2548	15.0367	0.71754	0.0788:0.7204:0.2008:0.0	.	1249	Q9BTC0	DIDO1_HUMAN	G	1249	ENSP00000266070:A1249G;ENSP00000378752:A1249G	ENSP00000266070:A1249G	A	-	2	0	DIDO1	60984007	0.030000	0.19436	0.000000	0.03702	0.001000	0.01503	0.325000	0.19628	0.117000	0.18138	-0.300000	0.09419	GCA		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
HIRA	7290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	19363305	19363305	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:19363305T>C	ENST00000263208.5	-	15	1880	c.1624A>G	c.(1624-1626)Acc>Gcc	p.T542A	HIRA_ENST00000340170.4_Missense_Mutation_p.T542A|HIRA_ENST00000541063.1_Missense_Mutation_p.T498A|HIRA_ENST00000546308.1_Missense_Mutation_p.T498A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	542	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGAGTAGAGGTAGCATTCATA	0.488																																						.											0													116.0	91.0	100.0					22																	19363305		2203	4300	6503	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1624A>G	22.37:g.19363305T>C	ENSP00000263208:p.Thr542Ala		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076775	0.36662	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71579	-0.35;-0.58;-0.43;-0.39	5.02	2.79	0.32731	.	0.391386	0.27686	N	0.018280	T	0.46464	0.1394	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.15492	-1.0435	10	0.08837	T	0.75	-10.6408	4.5453	0.12078	0.1398:0.1619:0.0:0.6982	.	498;542;542	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	A	542;542;498;51;498	ENSP00000345350:T542A;ENSP00000263208:T542A;ENSP00000446073:T498A;ENSP00000441870:T498A	ENSP00000263208:T542A	T	-	1	0	HIRA	17743305	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.287000	0.43505	0.349000	0.23975	0.533000	0.62120	ACC		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	48694702	48694702	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:48694702G>A	ENST00000164024.4	-	2	4108	c.3828C>T	c.(3826-3828)acC>acT	p.T1276T	CELSR3_ENST00000544264.1_Silent_p.T1276T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1276					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGCGCACGGTCAGGCTGT	0.682																																						.											0													34.0	30.0	31.0					3																	48694702		2201	4299	6500	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3828C>T	3.37:g.48694702G>A			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	105464866	105464866	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:105464866A>C	ENST00000264122.4	-	6	1061	c.740T>G	c.(739-741)tTg>tGg	p.L247W	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L247W|CBLB_ENST00000405772.1_Missense_Mutation_p.L247W|CBLB_ENST00000394027.3_Missense_Mutation_p.L269W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	247	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCAATTCCGCAAAATAGAGCC	0.323			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	.		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													76.0	81.0	79.0					3																	105464866		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.740T>G	3.37:g.105464866A>C	ENSP00000264122:p.Leu247Trp		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524949	0.85600	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.92249	-2.9;-2.91;-2.98;-3.0	5.89	5.89	0.94794	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.146062	0.45361	D	0.000364	D	0.96540	0.8871	M	0.86805	2.84	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	D	0.97148	0.9829	10	0.87932	D	0	-10.2901	16.2912	0.82752	1.0:0.0:0.0:0.0	.	269;247;247	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	247;269;247;247	ENSP00000264122:L247W;ENSP00000377595:L269W;ENSP00000384816:L247W;ENSP00000384938:L247W	ENSP00000264122:L247W	L	-	2	0	CBLB	106947556	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	9.326000	0.96389	2.251000	0.74343	0.482000	0.46254	TTG		0.323	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	79301068	79301068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:79301068C>T	ENST00000325942.6	+	27	3921	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.Q1161*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1161					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAAAGAGGTTCAGCTGGACAA	0.473																																						.											0													99.0	102.0	101.0					4																	79301068		1926	4122	6048	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3481C>T	4.37:g.79301068C>T	ENSP00000326330:p.Gln1161*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941586	0.99300	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.53	5.53	0.82687	.	0.466636	0.22014	N	0.065839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4531	0.94876	0.0:1.0:0.0:0.0	.	.	.	.	X	1161	.	ENSP00000264895:Q1161X	Q	+	1	0	FRAS1	79520092	0.952000	0.32445	0.958000	0.39756	0.124000	0.20399	4.549000	0.60726	2.600000	0.87896	0.591000	0.81541	CAG		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
ARSI	340075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149677902	149677902	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:149677902C>A	ENST00000328668.7	-	2	1164	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	195					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCTCACCCTCGTGCAGGT	0.627																																						.											0													56.0	54.0	55.0					5																	149677902		2203	4300	6503	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.585G>T	5.37:g.149677902C>A	ENSP00000333395:p.Glu195Asp		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123024	0.01770	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.96136	-3.92;-3.92;-3.92	4.32	2.52	0.30459	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.051777	0.85682	D	0.000000	D	0.85256	0.5655	N	0.11724	0.165	0.37798	D	0.927598	B	0.12013	0.005	B	0.22880	0.042	T	0.75028	-0.3462	10	0.02654	T	1	.	4.4599	0.11661	0.1488:0.5251:0.0:0.3261	.	195	Q5FYB1	ARSI_HUMAN	D	195;52;52	ENSP00000333395:E195D;ENSP00000426879:E52D;ENSP00000420955:E52D	ENSP00000333395:E195D	E	-	3	2	ARSI	149658095	0.049000	0.20398	0.998000	0.56505	0.927000	0.56198	-0.741000	0.04855	0.567000	0.29293	0.561000	0.74099	GAG		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	
SLC35B4	84912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	133986798	133986798	+	Missense_Mutation	SNP	T	T	A	rs377475240		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:133986798T>A	ENST00000378509.4	-	5	708	c.409A>T	c.(409-411)Atg>Ttg	p.M137L		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	137					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TTTGCTGACATAAAAGTGCAA	0.343																																						.											0													77.0	84.0	82.0					7																	133986798		2203	4300	6503	SO:0001583	missense	84912			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.409A>T	7.37:g.133986798T>A	ENSP00000367770:p.Met137Leu		A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	ENST00000378509.4	37	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712721	0.48517	.	.	ENSG00000205060	ENST00000378509	T	0.68181	-0.31	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29646	0.253;0.128;0.155	B;B;B	0.31495	0.115;0.08;0.131	T	0.56214	-0.8016	10	0.11182	T	0.66	-1.4447	15.8874	0.79261	0.0:0.0:0.0:1.0	.	137;137;137	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	L	137	ENSP00000367770:M137L	ENSP00000367770:M137L	M	-	1	0	SLC35B4	133637338	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.598000	0.82745	2.230000	0.72887	0.528000	0.53228	ATG		0.343	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826	
BMP1	649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	22052331	22052331	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:22052331A>G	ENST00000306385.5	+	12	2208	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	BMP1_ENST00000397814.3_Missense_Mutation_p.E513G|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.E513G|BMP1_ENST00000306349.8_Missense_Mutation_p.E513G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	513	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGTGGCTATGAGAAGCCTGAT	0.567																																						.											0													81.0	80.0	80.0					8																	22052331		2203	4300	6503	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1538A>G	8.37:g.22052331A>G	ENSP00000305714:p.Glu513Gly		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789672	0.70337	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.25	5.25	0.73442	CUB (5);	0.000000	0.38959	U	0.001504	T	0.22551	0.0544	L	0.33293	1	0.80722	D	1	P;P;P;P	0.51653	0.763;0.932;0.947;0.862	B;P;P;P	0.51945	0.355;0.685;0.661;0.526	T	0.00931	-1.1510	10	0.44086	T	0.13	.	14.1289	0.65240	1.0:0.0:0.0:0.0	.	513;586;513;513	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	G	513	ENSP00000305714:E513G;ENSP00000380917:E513G;ENSP00000306121:E513G;ENSP00000380915:E513G	ENSP00000306121:E513G	E	+	2	0	BMP1	22108276	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.339000	0.96797	1.973000	0.57446	0.379000	0.24179	GAG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
RIPK2	8767	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	90802425	90802425	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:90802425G>A	ENST00000220751.4	+	11	1718	c.1404G>A	c.(1402-1404)ttG>ttA	p.L468L	RIPK2_ENST00000540020.1_Silent_p.L331L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	468	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCAGGGACTTGATCATGAAAG	0.453																																						.											0													98.0	94.0	95.0					8																	90802425		2203	4300	6503	SO:0001819	synonymous_variant	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1404G>A	8.37:g.90802425G>A			B7Z748|Q6UWF0	Silent	SNP	ENST00000220751.4	37	CCDS6247.1																																																																																				0.453	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1		
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76937378	76937378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937378delA	ENST00000373344.5	-	9	3584	c.3370delT	c.(3370-3372)tctfs	p.S1125fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1087fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1125					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTATCAGAAGAGTTACAACCA	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79.0	83.0	82.0					X																	76937378		2203	4291	6494	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3370delT	X.37:g.76937378delA	ENSP00000362441:p.Ser1125fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ATP7A	538	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	77275864	77275864	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:77275864T>C	ENST00000341514.6	+	13	2905	c.2750T>C	c.(2749-2751)gTc>gCc	p.V917A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V839A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	917					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTCAAATTGTCAAACTTGTG	0.418																																						.											0													104.0	91.0	95.0					X																	77275864		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2750T>C	X.37:g.77275864T>C	ENSP00000345728:p.Val917Ala		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868876	0.91587	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.88509	-2.39;-2.39	5.83	5.83	0.93111	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	L	0.43598	1.365	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.92826	0.6276	10	0.87932	D	0	2.33	15.1442	0.72637	0.0:0.0:0.0:1.0	.	917	Q04656	ATP7A_HUMAN	A	839;917	ENSP00000343026:V839A;ENSP00000345728:V917A	ENSP00000345728:V917A	V	+	2	0	ATP7A	77162520	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.038000	0.88943	1.960000	0.56953	0.441000	0.28932	GTC		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	10	63700094	63700094	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:63700094G>A	ENST00000279873.7	+	3	839	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	143					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGAAGCTCTGCTGAAGTACA	0.458																																						.											0													106.0	99.0	101.0					10																	63700094		2203	4300	6503	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.429G>A	10.37:g.63700094G>A			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				0.458	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
MUC2	4583	hgsc.bcm.edu	37	11	1092954	1092954	+	Splice_Site	SNP	G	G	A	rs56352686		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccactacggtgaccccaa	0.627																																						.											0													52.0	85.0	74.0					11																	1092954		1812	3296	5108	SO:0001630	splice_region_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A			Q14878	Silent	SNP	ENST00000359061.5	37																																																																																					0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent
PCOLCE	5118	broad.mit.edu;hgsc.bcm.edu	37	7	100204166	100204166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204166delG	ENST00000223061.5	+	6	1133	c.853delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAAGGGCCCGGCCCCAAACG	0.602																																						.											0													44.0	47.0	46.0					7																	100204166		2203	4300	6503	SO:0001589	frameshift_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.853delG	7.37:g.100204166delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.602	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	
PCOLCE	5118	hgsc.bcm.edu	37	7	100204168	100204168	+	Silent	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204168C>A	ENST00000223061.5	+	6	1135	c.855C>A	c.(853-855)ggC>ggA	p.G285G	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGGGCCCGGCCCCAAACGGG	0.597																																						.											0													45.0	47.0	46.0					7																	100204168		2203	4300	6503	SO:0001819	synonymous_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.855C>A	7.37:g.100204168C>A			B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	131913154	131913154	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:131913154C>T	ENST00000359827.3	-	6	2641	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R560Q			Q9HCM2	PLXA4_HUMAN	plexin A4	560					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCGTCAGCCGGACACACTG	0.592																																						.											0													82.0	87.0	85.0					7																	131913154		1987	4171	6158	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1679G>A	7.37:g.131913154C>T	ENSP00000352882:p.Arg560Gln		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711357	0.30322	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.21361	2.01;2.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.10450	0.005	T	0.19582	-1.0301	10	0.11794	T	0.64	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	560	Q9HCM2	PLXA4_HUMAN	Q	560	ENSP00000323194:R560Q;ENSP00000352882:R560Q	ENSP00000323194:R560Q	R	-	2	0	PLXNA4	131563694	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.067000	0.41461	2.793000	0.96121	0.655000	0.94253	CGG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLEKHA6	22874	broad.mit.edu	37	1	204226633	204226633	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:204226633G>A	ENST00000272203.3	-	9	1688	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R478C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	458										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGGGTGAGCGGGGCACAGAG	0.667																																						.											0													20.0	19.0	19.0					1																	204226633		2186	4294	6480	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1372C>T	1.37:g.204226633G>A	ENSP00000272203:p.Arg458Cys		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307563	0.81247	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11495	2.77;3.23	5.4	5.4	0.78164	.	0.051985	0.85682	D	0.000000	T	0.32133	0.0819	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.00675	-1.1615	10	0.59425	D	0.04	-26.4644	19.1454	0.93463	0.0:0.0:1.0:0.0	.	478;458	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	C	458;478	ENSP00000272203:R458C;ENSP00000402046:R478C	ENSP00000272203:R458C	R	-	1	0	PLEKHA6	202493256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.369000	0.73109	2.688000	0.91661	0.655000	0.94253	CGC		0.667	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						.											1	Deletion - Frameshift(1)	large_intestine(1)											132.0	134.0	134.0					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
APBB1	322	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	6415260	6415260	+	IGR	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:6415260G>C	ENST00000609360.1	-	0	2642				APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.G492A|SMPD1_ENST00000356761.2_Missense_Mutation_p.G436A|SMPD1_ENST00000527275.1_Missense_Mutation_p.G491A|SMPD1_ENST00000299397.3_Missense_Mutation_p.G448A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCTACATCGGCCTTAATCCT	0.557																																					GBM(147;1810 2556 5672 39622)	.											0													51.0	52.0	52.0					11																	6415260		2201	4296	6497	SO:0001628	intergenic_variant	6609			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415260G>C			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.40|11.40	1.626864|1.626864	0.28978|0.28978	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000526280|ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	4.74|4.74	1.58|1.58	0.23477|0.23477	.|.	.|0.866705	.|0.10215	.|N	.|0.701671	T|T	0.78059|0.78059	0.4224|0.4224	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.16396	.|0.008;0.017;0.003	.|B;B;B	.|0.15052	.|0.006;0.012;0.005	T|T	0.64803|0.64803	-0.6321|-0.6321	5|10	.|0.41790	.|T	.|0.15	-36.4075|-36.4075	5.4497|5.4497	0.16556|0.16556	0.5195:0.0:0.4805:0.0|0.5195:0.0:0.4805:0.0	.|.	.|491;448;490	.|E9PKS3;G3XAB5;P17405	.|.;.;ASM_HUMAN	P|A	178|448;436;492;491	.|ENSP00000299397:G448A;ENSP00000349203:G436A;ENSP00000340409:G492A;ENSP00000435350:G491A	.|ENSP00000299397:G448A	A|G	+|+	1|2	0|0	SMPD1|SMPD1	6371836|6371836	0.995000|0.995000	0.38212|0.38212	0.327000|0.327000	0.25402|0.25402	0.958000|0.958000	0.62258|0.62258	3.263000|3.263000	0.51546|0.51546	0.601000|0.601000	0.29879|0.29879	-0.291000|-0.291000	0.09656|0.09656	GCC|GGC		0.557	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
INSC	387755	broad.mit.edu	37	11	15267583	15267583	+	Silent	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:15267583G>T	ENST00000379554.3	+	13	1783	c.1737G>T	c.(1735-1737)gtG>gtT	p.V579V	INSC_ENST00000530161.1_Silent_p.V532V|INSC_ENST00000424273.1_Silent_p.V490V|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000379556.3_Silent_p.V532V|INSC_ENST00000525218.1_Silent_p.V490V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	579					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGAGTTTTGTGTAGTGAGTGT	0.517																																						.											0													128.0	127.0	127.0					11																	15267583		1991	4169	6160	SO:0001819	synonymous_variant	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1737G>T	11.37:g.15267583G>T			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.517	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
MYRF	745	broad.mit.edu	37	11	61544745	61544745	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:61544745C>T	ENST00000278836.5	+	12	1696	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	MYRF_ENST00000327797.1_Missense_Mutation_p.P159S|MYRF_ENST00000265460.5_Missense_Mutation_p.P525S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	534					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCCTCCAACCCAGGCCAGTT	0.677																																						.											0													47.0	45.0	45.0					11																	61544745		2202	4298	6500	SO:0001583	missense	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1600C>T	11.37:g.61544745C>T	ENSP00000278836:p.Pro534Ser		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606695	0.87157	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	D;D;T	0.89270	-2.49;-2.45;-0.96	3.83	3.83	0.44106	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.97004	0.9731	10	0.87932	D	0	-9.9032	16.617	0.84918	0.0:1.0:0.0:0.0	.	525;534	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	S	534;525;159	ENSP00000278836:P534S;ENSP00000265460:P525S;ENSP00000333261:P159S	ENSP00000265460:P525S	P	+	1	0	C11orf9	61301321	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	7.410000	0.80065	2.081000	0.62600	0.313000	0.20887	CCA		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
POU2F3	25833	broad.mit.edu	37	11	120173026	120173026	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:120173026delG	ENST00000543440.2	+	6	543	c.393delG	c.(391-393)cagfs	p.Q133fs	POU2F3_ENST00000260264.4_Frame_Shift_Del_p.Q135fs	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	133					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCTTTCCACAGCAACAAAGCG	0.512											OREG0021420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													153.0	129.0	137.0					11																	120173026		2203	4300	6503	SO:0001589	frameshift_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.393delG	11.37:g.120173026delG	ENSP00000441687:p.Gln133fs	1501	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Frame_Shift_Del	DEL	ENST00000543440.2	37	CCDS8431.1																																																																																				0.512	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
SLCO1B7	338821	broad.mit.edu;mdanderson.org	37	12	21242950	21242950	+	Silent	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:21242950A>G	ENST00000421593.2	+	13	1833	c.1833A>G	c.(1831-1833)gtA>gtG	p.V611V	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.V658V|LST3_ENST00000381541.3_Silent_p.V658V|SLCO1B3_ENST00000553473.1_Silent_p.V719V|LST3_ENST00000540229.1_Silent_p.V719V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	611						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATACCAAAGTATTAGAAAATG	0.328																																						.											0													49.0	52.0	51.0					12																	21242950		2038	4228	6266	SO:0001819	synonymous_variant	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1833A>G	12.37:g.21242950A>G			Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
FREM2	341640	broad.mit.edu	37	13	39266098	39266098	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:39266098C>T	ENST00000280481.7	+	1	4833	c.4617C>T	c.(4615-4617)caC>caT	p.H1539H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1539					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCACCATCCACAAGCTGGTTG	0.443																																						.											0													125.0	113.0	117.0					13																	39266098		2203	4300	6503	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4617C>T	13.37:g.39266098C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
SALL2	6297	broad.mit.edu;mdanderson.org	37	14	21992203	21992203	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:21992203C>T	ENST00000327430.3	-	2	1953	c.1659G>A	c.(1657-1659)ttG>ttA	p.L553L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.L416L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGAAGTCACCAACTTACTTA	0.547																																						.											0													113.0	92.0	99.0					14																	21992203		2203	4300	6503	SO:0001819	synonymous_variant	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1659G>A	14.37:g.21992203C>T			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119658	0.08881	.	.	ENSG00000165821	ENST00000546363	.	.	.	5.12	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0876	8.846	0.35170	0.0:0.7491:0.0:0.2509	.	.	.	.	X	412	.	.	W	-	2	0	SALL2	21062043	0.086000	0.21541	1.000000	0.80357	0.948000	0.59901	-0.125000	0.10579	0.203000	0.20529	-0.219000	0.12488	TGG		0.547	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
GOLGA8A	23015	broad.mit.edu	37	15	34678927	34678927	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:34678927delA	ENST00000359187.4	-	3	248	c.184delT	c.(184-186)tccfs	p.S63fs	GOLGA8A_ENST00000360553.3_Frame_Shift_Del_p.S63fs|GOLGA8A_ENST00000543376.1_5'UTR|GOLGA8A_ENST00000432566.2_Frame_Shift_Del_p.S93fs	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	91						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCAGAGAGGAGGAGGCGGAG	0.567																																						.											0													6.0	10.0	9.0					15																	34678927		1801	3926	5727	SO:0001589	frameshift_variant	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.184delT	15.37:g.34678927delA	ENSP00000352111:p.Ser63fs		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Frame_Shift_Del	DEL	ENST00000359187.4	37	CCDS10038.1																																																																																				0.567	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251830.2	NM_181076	
FSIP1	161835	broad.mit.edu	37	15	40056059	40056059	+	Frame_Shift_Del	DEL	T	T	-	rs560347922		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:40056059delT	ENST00000350221.3	-	5	731	c.522delA	c.(520-522)aaafs	p.K174fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	174										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAGATAAAAATTTTTTTGTAT	0.308																																						.											0																																										SO:0001589	frameshift_variant	161835			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.522delA	15.37:g.40056059delT	ENSP00000280236:p.Lys174fs		Q6X2C8|Q86Y89	Frame_Shift_Del	DEL	ENST00000350221.3	37	CCDS10050.1																																																																																				0.308	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	
SNX1	6642	broad.mit.edu	37	15	64422451	64422451	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:64422451G>T	ENST00000559844.1	+	10	960	c.946G>T	c.(946-948)Gta>Tta	p.V316L	SNX1_ENST00000353874.4_Missense_Mutation_p.V316L|SNX1_ENST00000261889.5_Missense_Mutation_p.V316L|SNX1_ENST00000560829.1_Missense_Mutation_p.V98L|SNX1_ENST00000561026.1_Missense_Mutation_p.V251L			Q13596	SNX1_HUMAN	sorting nexin 1	316	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCAGGAGGTAGAGTGTGA	0.438																																						.											0													82.0	78.0	79.0					15																	64422451		2203	4300	6503	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.946G>T	15.37:g.64422451G>T	ENSP00000453785:p.Val316Leu		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673595	0.47781	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.27720	1.65	4.7	3.75	0.43078	Vps5 C-terminal (1);	0.058522	0.64402	D	0.000002	T	0.21468	0.0517	N	0.25332	0.735	0.80722	D	1	B;P;B;B;P;B;B	0.38250	0.228;0.624;0.031;0.031;0.57;0.001;0.031	B;B;B;B;B;B;B	0.43445	0.363;0.42;0.101;0.101;0.295;0.005;0.055	T	0.04320	-1.0960	10	0.02654	T	1	-8.8677	10.6197	0.45472	0.1015:0.0:0.8984:0.0	.	316;226;316;316;251;316;316	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	L	316;316;251	ENSP00000326668:V316L	ENSP00000261889:V251L	V	+	1	0	SNX1	62209504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.729000	0.54999	1.234000	0.43709	0.561000	0.74099	GTA		0.438	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
GOLGA6B	55889	broad.mit.edu;mdanderson.org	37	15	72954855	72954855	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:72954855G>A	ENST00000421285.3	+	11	1110	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	370						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TTCGGGAGCAGCAGAAGACGC	0.592																																						.											0													16.0	18.0	17.0					15																	72954855		1441	2844	4285	SO:0001819	synonymous_variant	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1110G>A	15.37:g.72954855G>A			A8MYY7	Silent	SNP	ENST00000421285.3	37	CCDS10245.2																																																																																				0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	
SYNM	23336	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	99671287	99671287	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:99671287A>T	ENST00000560674.1	+	4	2333	c.1864A>T	c.(1864-1866)Aaa>Taa	p.K622*	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Nonsense_Mutation_p.K907*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Nonsense_Mutation_p.K907*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	908	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACTCACTGGAAAGAACAAGC	0.522																																					Pancreas(125;1071 1762 21750 40003 40381)	.											0													35.0	38.0	37.0					15																	99671287		1929	4138	6067	SO:0001587	stop_gained	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1864A>T	15.37:g.99671287A>T	ENSP00000453040:p.Lys622*		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	A	41	8.928228	0.99006	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2654	0.73657	1.0:0.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000330469:K907X	K	+	1	0	SYNM	97488810	0.962000	0.33011	0.908000	0.35775	0.898000	0.52572	2.395000	0.44459	2.191000	0.70037	0.533000	0.62120	AAA		0.522	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
XPO6	23214	broad.mit.edu	37	16	28128693	28128693	+	Silent	SNP	G	G	A	rs372282404		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:28128693G>A	ENST00000304658.5	-	15	2450	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	XPO6_ENST00000565698.1_Silent_p.F636F	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	650					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGTGTCACGAACTGCTGCG	0.502																																						.											0								G		0,4084		0,0,2042	233.0	224.0	227.0		1950	-8.2	0.4	16		227	1,8375		0,1,4187	no	coding-synonymous	XPO6	NM_015171.2		0,1,6229	AA,AG,GG		0.0119,0.0,0.0080		650/1126	28128693	1,12459	2042	4188	6230	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1950C>T	16.37:g.28128693G>A			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.502	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
GPR56	9289	broad.mit.edu	37	16	57697474	57697474	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:57697474A>C	ENST00000388812.4	+	14	2502	c.2062A>C	c.(2062-2064)Acc>Ccc	p.T688P	GPR56_ENST00000562631.1_Missense_Mutation_p.T682P|GPR56_ENST00000456916.1_Missense_Mutation_p.T688P|GPR56_ENST00000379694.4_Missense_Mutation_p.T518P|GPR56_ENST00000568908.1_Missense_Mutation_p.T682P|GPR56_ENST00000388813.5_Missense_Mutation_p.T682P|GPR56_ENST00000567835.1_Missense_Mutation_p.T688P|GPR56_ENST00000562558.1_Missense_Mutation_p.T682P|GPR56_ENST00000568909.1_Missense_Mutation_p.T688P|GPR56_ENST00000540164.2_Missense_Mutation_p.T682P|GPR56_ENST00000538815.1_Missense_Mutation_p.T682P|GPR56_ENST00000379696.3_Missense_Mutation_p.T688P|GPR56_ENST00000544297.1_Missense_Mutation_p.T507P			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	688					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTCGGGCAGCACCTCGTCCAG	0.672																																						.											0													52.0	52.0	52.0					16																	57697474		2198	4300	6498	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2062A>C	16.37:g.57697474A>C	ENSP00000373464:p.Thr688Pro		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098377	0.56183	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.51071	0.72;0.73;0.72;0.73;0.72;1.66;1.1;0.73	4.79	4.79	0.61399	.	0.117908	0.37715	N	0.001978	T	0.53077	0.1774	N	0.24115	0.695	0.30860	N	0.733618	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.85130	0.997;0.994;0.973;0.994	T	0.58239	-0.7671	10	0.62326	D	0.03	.	11.6826	0.51466	1.0:0.0:0.0:0.0	.	507;687;682;688	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	P	682;688;682;688;682;507;518;688	ENSP00000373465:T682P;ENSP00000373464:T688P;ENSP00000444415:T682P;ENSP00000398034:T688P;ENSP00000444911:T682P;ENSP00000438006:T507P;ENSP00000369016:T518P;ENSP00000369018:T688P	ENSP00000369016:T518P	T	+	1	0	GPR56	56254975	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	4.852000	0.62904	1.797000	0.52628	0.402000	0.26972	ACC		0.672	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3		
MMP15	4324	broad.mit.edu	37	16	58075623	58075624	+	Frame_Shift_Del	DEL	CA	CA	-	rs551320756	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075623_58075624delCA	ENST00000219271.3	+	6	1798_1799	c.1013_1014delCA	c.(1012-1014)ccafs	p.P340fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	340	Poly-Pro.				cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCCCAGCCACCACCCCCAGGTG	0.743																																						.											0										60,4042		9,42,2000						2.5	1.0			10	42,7928		13,16,3956	no	frameshift	MMP15	NM_002428.2		22,58,5956	A1A1,A1R,RR		0.527,1.4627,0.8449				102,11970				SO:0001589	frameshift_variant	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1013_1014delCA	16.37:g.58075623_58075624delCA	ENSP00000219271:p.Pro340fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.743	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
MMP15	4324	broad.mit.edu	37	16	58075631	58075631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075631delG	ENST00000219271.3	+	6	1806	c.1021delG	c.(1021-1023)ggtfs	p.G342fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	342					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ACCACCCCCAGGTGGGAAGCC	0.741																																						.											0													10.0	12.0	11.0					16																	58075631		2140	4221	6361	SO:0001589	frameshift_variant	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1021delG	16.37:g.58075631delG	ENSP00000219271:p.Gly342fs		A0A2U6|Q14111	Frame_Shift_Del	DEL	ENST00000219271.3	37	CCDS10792.1																																																																																				0.741	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
AC009120.6	0	broad.mit.edu	37	16	74368806	74368806	+	RNA	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:74368806G>T	ENST00000565313.1	-	0	0				AC009120.6_ENST00000561921.1_RNA																							AAAGAGGCTTGGGAAGTGGTC	0.453																																						.											0																																												0																															16.37:g.74368806G>T				RNA	SNP	ENST00000565313.1	37																																																																																					0.453	AC009120.6-003	KNOWN	basic	antisense	antisense	OTTHUMT00000434677.1		
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	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"""	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	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.672+1G>T	17.37:g.7578176C>A			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
ZNF709	163051	broad.mit.edu	37	19	12575585	12575585	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:12575585C>T	ENST00000397732.3	-	4	1322	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R384Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.403																																					GBM(33;565 669 12371 29134 51667)	.											0													102.0	108.0	106.0					19																	12575585		2203	4300	6503	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1151G>A	19.37:g.12575585C>T	ENSP00000380840:p.Arg384Gln		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877206	0.72294	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24723	1.84;1.84	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33938	N	0.004420	T	0.39733	0.1089	M	0.65320	2	0.30009	N	0.815324	D	0.76494	0.999	P	0.56343	0.796	T	0.41787	-0.9489	10	0.72032	D	0.01	.	13.272	0.60165	0.0:1.0:0.0:0.0	.	384	Q8N972	ZN709_HUMAN	Q	384	ENSP00000380840:R384Q;ENSP00000404127:R384Q	ENSP00000404127:R384Q	R	-	2	0	ZNF709;CTD-2192J16.17	12436585	0.000000	0.05858	0.031000	0.17742	0.968000	0.65278	-1.097000	0.03349	1.860000	0.53959	0.467000	0.42956	CGA		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
RTN2	6253	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	45991752	45991752	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:45991752G>T	ENST00000245923.4	-	9	1709	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T	PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.P419T|RTN2_ENST00000430715.2_Missense_Mutation_p.P152T|RTN2_ENST00000590526.1_Missense_Mutation_p.P218T	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	492	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TACAGCAGGGGGATGGTGAAT	0.587																																						.											0													106.0	100.0	102.0					19																	45991752		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1474C>A	19.37:g.45991752G>T	ENSP00000245923:p.Pro492Thr		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343709	0.82022	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.77489	-1.1;-1.1;-1.1	5.58	5.58	0.84498	.	0.109289	0.64402	D	0.000005	D	0.88969	0.6582	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90290	0.4322	10	0.87932	D	0	-14.6183	15.1396	0.72601	0.0:0.0:1.0:0.0	.	419;492	O75298-2;O75298	.;RTN2_HUMAN	T	419;492;152	ENSP00000345127:P419T;ENSP00000245923:P492T;ENSP00000398178:P152T	ENSP00000245923:P492T	P	-	1	0	RTN2	50683592	1.000000	0.71417	0.909000	0.35828	0.883000	0.51084	7.344000	0.79328	2.649000	0.89929	0.650000	0.86243	CCC		0.587	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619	
SH2D6	284948	broad.mit.edu	37	2	85662144	85662144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:85662144delA	ENST00000340326.2	+	1	227	c.66delA	c.(64-66)ccafs	p.P23fs	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_Intron|SH2D6_ENST00000389938.2_Intron	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	23	Pro-rich.									central_nervous_system(1)|lung(2)	3						Gcccacccccaccccacccca	0.637																																						.											0													2.0	3.0	3.0					2																	85662144		1587	3412	4999	SO:0001589	frameshift_variant	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.66delA	2.37:g.85662144delA	ENSP00000341867:p.Pro23fs		A6ND14|Q6R306	Frame_Shift_Del	DEL	ENST00000340326.2	37	CCDS1976.1																																																																																				0.637	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482	
RGPD2	729857	broad.mit.edu	37	2	88125234	88125234	+	Silent	SNP	T	T	C	rs550032815	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0.0	0.0	5008	,	,		10105	0.0		0.002	False		,,,				2504	0.002					.											0													36.0	56.0	50.0					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																				0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170	
ZAK	51776	broad.mit.edu	37	2	174074493	174074493	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:174074493G>A	ENST00000375213.3	+	10	859	c.781G>A	c.(781-783)Gag>Aag	p.E261K	MLTK_ENST00000338983.3_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.E261K|MLTK_ENST00000409176.2_Missense_Mutation_p.E261K|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.E160K	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TTCAATCCTGGAGTCCATGTC	0.453																																						.											0													113.0	102.0	106.0					2																	174074493		2203	4300	6503	SO:0001583	missense	0																														ENST00000375213.3:c.781G>A	2.37:g.174074493G>A	ENSP00000364361:p.Glu261Lys		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439907	0.96168	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;T;T	0.80566	-0.94;-0.99;-0.94;-1.39;-0.99	5.97	5.97	0.96955	Protein kinase, catalytic domain (1);	0.043215	0.85682	D	0.000000	T	0.80232	0.4585	L	0.31926	0.97	0.80722	D	1	P;P;P;P;P	0.49559	0.877;0.925;0.9;0.877;0.787	B;P;B;B;B	0.49597	0.411;0.616;0.425;0.411;0.359	T	0.76561	-0.2914	10	0.29301	T	0.29	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	261;261;261;261;261	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	K	261;261;261;160;261	ENSP00000439414:E261K;ENSP00000387259:E261K;ENSP00000340257:E261K;ENSP00000399787:E160K;ENSP00000364361:E261K	ENSP00000340257:E261K	E	+	1	0	AC013461.1	173782739	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.827000	0.86722	2.835000	0.97688	0.591000	0.81541	GAG		0.453	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
CPXM1	56265	broad.mit.edu;mdanderson.org	37	20	2777897	2777897	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:2777897G>A	ENST00000380605.2	-	6	837	c.773C>T	c.(772-774)aCc>aTc	p.T258I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	258	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGAGCCAGGTCTGGGGCAG	0.657																																						.											0													23.0	27.0	26.0					20																	2777897		2198	4291	6489	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.773C>T	20.37:g.2777897G>A	ENSP00000369979:p.Thr258Ile		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704555	0.68615	.	.	ENSG00000088882	ENST00000380605	D	0.99032	-5.35	4.66	3.7	0.42460	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.115906	0.56097	D	0.000022	D	0.99029	0.9668	M	0.79475	2.455	0.36416	D	0.864022	D;D	0.64830	0.994;0.971	D;P	0.69142	0.962;0.812	D	0.99953	1.1577	10	0.87932	D	0	-13.0559	11.9346	0.52866	0.0:0.0:0.8251:0.1749	.	258;258	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	I	258	ENSP00000369979:T258I	ENSP00000369979:T258I	T	-	2	0	CPXM1	2725897	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.649000	0.37281	1.174000	0.42811	0.561000	0.74099	ACC		0.657	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
BTBD3	22903	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	11903397	11903397	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:11903397A>G	ENST00000405977.1	+	5	1277	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	BTBD3_ENST00000254977.3_Missense_Mutation_p.T157A|BTBD3_ENST00000378226.2_Missense_Mutation_p.T218A|BTBD3_ENST00000399006.2_Missense_Mutation_p.T157A|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	218					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TTTCCTGGAGACCAGCCTGAG	0.542																																						.											0													105.0	104.0	104.0					20																	11903397		2203	4300	6503	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.652A>G	20.37:g.11903397A>G	ENSP00000384545:p.Thr218Ala		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607351	0.66558	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226;ENST00000455911	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.52823	1.66	0.80722	D	1	P	0.42827	0.791	B	0.43478	0.421	T	0.01757	-1.1280	10	0.24483	T	0.36	.	15.6134	0.76744	1.0:0.0:0.0:0.0	.	218	Q9Y2F9	BTBD3_HUMAN	A	157;157;218;218;107	ENSP00000254977:T157A;ENSP00000381971:T157A;ENSP00000384545:T218A;ENSP00000367471:T218A;ENSP00000408817:T107A	ENSP00000254977:T157A	T	+	1	0	BTBD3	11851397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.281000	0.76405	0.528000	0.53228	ACC		0.542	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		
ZBTB46	140685	broad.mit.edu;ucsc.edu	37	20	62384061	62384061	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:62384061T>C	ENST00000245663.4	-	4	1526	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	ZBTB46_ENST00000302995.2_Missense_Mutation_p.E459G|ZBTB46_ENST00000395104.1_Missense_Mutation_p.E459G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	459					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTTCATGTGCTCGCGCCGCGT	0.697																																						.											0													57.0	42.0	47.0					20																	62384061		2202	4297	6499	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1376A>G	20.37:g.62384061T>C	ENSP00000245663:p.Glu459Gly		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319880	0.81469	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.14640	2.49;2.49;2.49	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144833	0.44902	D	0.000419	T	0.13841	0.0335	N	0.13327	0.33	0.58432	D	0.999998	D	0.56287	0.975	P	0.55161	0.77	T	0.17471	-1.0368	10	0.15952	T	0.53	.	12.838	0.57784	0.0:0.0:0.0:1.0	.	459	Q86UZ6	ZBT46_HUMAN	G	459	ENSP00000245663:E459G;ENSP00000303102:E459G;ENSP00000378536:E459G	ENSP00000245663:E459G	E	-	2	0	ZBTB46	61854505	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.826000	0.86716	1.624000	0.50355	0.528000	0.53228	GAG		0.697	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
CSF2RB	1439	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	37326788	37326788	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:37326788G>A	ENST00000403662.3	+	8	1150	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CSF2RB_ENST00000262825.5_Missense_Mutation_p.V316M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V316M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V257M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	310					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGATTCCCGTGCCCGACCC	0.607																																						.											0													67.0	56.0	60.0					22																	37326788		2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.928G>A	22.37:g.37326788G>A	ENSP00000384053:p.Val310Met		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013073	0.75161	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.36	5.36	0.76844	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.376195	0.19117	N	0.122286	T	0.81250	0.4783	M	0.76002	2.32	0.36748	D	0.88257	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82979	-0.0188	10	0.38643	T	0.18	-28.2247	16.0129	0.80417	0.0:0.0:1.0:0.0	.	316;310	P32927-2;P32927	.;IL3RB_HUMAN	M	310;310;316;316;257	ENSP00000384053:V310M;ENSP00000262825:V316M;ENSP00000385271:V316M;ENSP00000440003:V257M	ENSP00000262825:V316M	V	+	1	0	CSF2RB	35656734	0.994000	0.37717	0.268000	0.24571	0.019000	0.09904	3.867000	0.56047	2.506000	0.84524	0.462000	0.41574	GTG		0.607	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:51183206G>T	ENST00000216139.5	+	5	877	c.837G>T	c.(835-837)tgG>tgT	p.W279C	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597																																						.											0													14.0	16.0	15.0					22																	51183206		2194	4268	6462	SO:0001583	missense	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.837G>T	22.37:g.51183206G>T	ENSP00000216139:p.Trp279Cys		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302954	0.40795	.	.	ENSG00000100312	ENST00000216139	D	0.88431	-2.38	4.19	3.17	0.36434	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.19487	N	0.113087	D	0.82875	0.5132	N	0.01874	-0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.72384	-0.4310	10	0.56958	D	0.05	-14.1835	6.3667	0.21459	0.2211:0.0:0.7789:0.0	.	279	P10323	ACRO_HUMAN	C	279	ENSP00000216139:W279C	ENSP00000216139:W279C	W	+	3	0	ACR	49530072	1.000000	0.71417	0.656000	0.29637	0.943000	0.58893	3.881000	0.56152	0.980000	0.38523	0.305000	0.20034	TGG		0.597	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097	
WDR6	11180	broad.mit.edu	37	3	49049218	49049218	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:49049218delT	ENST00000608424.1	+	2	290	c.251delT	c.(250-252)gtgfs	p.V84fs	WDR6_ENST00000395474.3_Frame_Shift_Del_p.V114fs|WDR6_ENST00000448293.1_Frame_Shift_Del_p.V33fs|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	84					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGCCATGGTGGCTGTGTTT	0.552																																						.											0													165.0	166.0	166.0					3																	49049218		2203	4300	6503	SO:0001589	frameshift_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.251delT	3.37:g.49049218delT	ENSP00000477389:p.Val84fs		B4DHK2|Q3MIT1|Q9UF63	Frame_Shift_Del	DEL	ENST00000608424.1	37																																																																																					0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1		
SEC22A	26984	broad.mit.edu	37	3	122990419	122990419	+	Missense_Mutation	SNP	G	G	T	rs190644797		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:122990419G>T	ENST00000309934.4	+	6	1670	c.774G>T	c.(772-774)ttG>ttT	p.L258F	SEC22A_ENST00000492595.1_Missense_Mutation_p.L258F|SEC22A_ENST00000481965.2_Nonstop_Mutation_p.*100L	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	258					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		AATCTTTTTTGACTTTTGGCT	0.378																																						.											0													90.0	94.0	93.0					3																	122990419		2203	4300	6503	SO:0001583	missense	26984			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.774G>T	3.37:g.122990419G>T	ENSP00000310521:p.Leu258Phe		B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674964|4.674964	0.88445|0.88445	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000309934|ENST00000481965	T;T;T|.	0.20200|.	2.09;2.1;2.09|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78298|.	0.4261|.	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.78314|.	0.991|.	T|.	0.76000|.	-0.3119|.	10|.	0.62326|.	D|.	0.03|.	0.7297|0.7297	20.3431|20.3431	0.98773|0.98773	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258|.	Q96IW7|.	SC22A_HUMAN|.	F|L	258|100	ENSP00000417972:L258F;ENSP00000420343:L258F;ENSP00000310521:L258F|.	ENSP00000310521:L258F|.	L|X	+|+	3|2	2|2	SEC22A|SEC22A	124473109|124473109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.605000|7.605000	0.82844|0.82844	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430	
C3orf58	205428	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	143704589	143704589	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:143704589G>T	ENST00000315691.3	+	2	1397	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.V50F|C3orf58_ENST00000495414.1_Missense_Mutation_p.V79F	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	288					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCCTGGACGTCAGCTTTGA	0.408																																						.											0													165.0	149.0	155.0					3																	143704589		2203	4300	6503	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.862G>T	3.37:g.143704589G>T	ENSP00000320081:p.Val288Phe		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104468	0.77096	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.37058	1.22	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.54323	1.7	0.80722	D	1	P;D	0.71674	0.916;0.998	P;D	0.77004	0.535;0.989	T	0.60616	-0.7228	10	0.87932	D	0	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	79;288	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	F	288;79;94;50	ENSP00000320081:V288F	ENSP00000320081:V288F	V	+	1	0	C3orf58	145187279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GTC		0.408	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
FBXL5	26234	broad.mit.edu	37	4	15627587	15627587	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:15627587C>A	ENST00000341285.3	-	9	1262	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	FBXL5_ENST00000412094.2_Missense_Mutation_p.G363C|FBXL5_ENST00000382358.4_Missense_Mutation_p.G254C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	380					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGGCAGCAACCAAGCCAAGAC	0.373																																						.											0													23.0	24.0	23.0					4																	15627587		2194	4275	6469	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1138G>T	4.37:g.15627587C>A	ENSP00000344866:p.Gly380Cys		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484659|4.484659	0.84854|0.84854	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.35421|.	1.34;1.34;1.31|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.70691|0.70691	-0.4802|-0.4802	10|5	0.87932|.	D|.	0|.	-19.976|-19.976	20.3116|20.3116	0.98642|0.98642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363;380|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	C|L	380;363;254|300	ENSP00000344866:G380C;ENSP00000408679:G363C;ENSP00000371795:G254C|.	ENSP00000344866:G380C|.	G|W	-|-	1|2	0|0	FBXL5|FBXL5	15236685|15236685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.103000|7.103000	0.77014|0.77014	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
AGPAT9	84803	broad.mit.edu;mdanderson.org	37	4	84465716	84465716	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:84465716A>G	ENST00000395226.2	+	3	387	c.169A>G	c.(169-171)Acc>Gcc	p.T57A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.T57A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	57					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGAAAAAGGAACCCCAAAGGA	0.343																																						.											0													196.0	211.0	206.0					4																	84465716		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.169A>G	4.37:g.84465716A>G	ENSP00000378651:p.Thr57Ala		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	1.229	-0.624612	0.03636	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.39787	1.06;1.06	5.13	0.858	0.19030	.	0.696409	0.14235	N	0.332468	T	0.09730	0.0239	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.09338	T	0.73	-1.4317	3.6614	0.08240	0.287:0.0:0.5317:0.1814	.	57	Q53EU6	GPAT3_HUMAN	A	57	ENSP00000378651:T57A;ENSP00000264409:T57A	ENSP00000264409:T57A	T	+	1	0	AGPAT9	84684740	0.784000	0.28713	0.366000	0.25914	0.925000	0.55904	0.849000	0.27723	0.320000	0.23234	-0.358000	0.07595	ACC		0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
GUSBP1	728411	broad.mit.edu	37	5	21461923	21461923	+	RNA	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:21461923A>T	ENST00000607545.1	+	0	127					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ACTTGGAAGCAATGTTTGAAC	0.373																																						.											0																																												728411			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21461923A>T			A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																					0.373	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324	
RAD17	5884	broad.mit.edu	37	5	68695895	68695895	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:68695895C>T	ENST00000509734.1	+	16	2303	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	RAD17_ENST00000345306.6_Missense_Mutation_p.A531V|RAD17_ENST00000521422.1_Missense_Mutation_p.A366V|RAD17_ENST00000358030.2_Missense_Mutation_p.A366V|RAD17_ENST00000380774.3_Missense_Mutation_p.A542V|RAD17_ENST00000354868.5_Missense_Mutation_p.A531V|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Missense_Mutation_p.A445V|RAD17_ENST00000305138.4_Missense_Mutation_p.A531V|RAD17_ENST00000354312.3_Missense_Mutation_p.A531V|RAD17_ENST00000361732.2_Missense_Mutation_p.A531V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	542	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATTGCCTGGCAGCAAAAGCA	0.338								Other conserved DNA damage response genes																														.											0													57.0	50.0	52.0					5																	68695895		2203	4300	6503	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1625C>T	5.37:g.68695895C>T	ENSP00000426191:p.Ala542Val		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769929	0.49680	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	.	0.272817	0.41500	D	0.000873	T	0.25382	0.0617	L	0.55103	1.725	0.48341	D	0.999634	P;B;P	0.35872	0.525;0.128;0.469	B;B;B	0.35727	0.209;0.063;0.132	T	0.02167	-1.1202	10	0.27082	T	0.32	-7.0607	12.6173	0.56584	0.0:0.9201:0.0:0.0799	.	542;445;531	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	V	531;542;531;366;531;531;531;445;366;542;150	ENSP00000355226:A531V;ENSP00000426191:A542V;ENSP00000346938:A531V;ENSP00000427743:A366V;ENSP00000346271:A531V;ENSP00000311227:A531V;ENSP00000303134:A531V;ENSP00000282891:A445V;ENSP00000350725:A366V;ENSP00000370151:A542V;ENSP00000425005:A150V	ENSP00000282891:A445V	A	+	2	0	RAD17	68731651	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.412000	0.66392	2.673000	0.90976	0.580000	0.79431	GCA		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344	
SPZ1	84654	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	79616249	79616249	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:79616249T>G	ENST00000296739.4	+	1	460	c.215T>G	c.(214-216)cTc>cGc	p.L72R		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	72					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTAACAATCTCTTAAAAGAA	0.368																																						.											0													65.0	62.0	63.0					5																	79616249		1817	4077	5894	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.215T>G	5.37:g.79616249T>G	ENSP00000369611:p.Leu72Arg		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504338	0.44558	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.59638	0.25;0.77	4.33	3.17	0.36434	.	0.380247	0.18580	N	0.137078	T	0.66557	0.2801	L	0.52011	1.625	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.55068	-0.8198	10	0.87932	D	0	-3.0115	8.3567	0.32335	0.0:0.0952:0.0:0.9048	.	72	Q9BXG8	SPZ1_HUMAN	R	72	ENSP00000426530:L72R;ENSP00000369611:L72R	ENSP00000369611:L72R	L	+	2	0	SPZ1	79652005	0.011000	0.17503	0.007000	0.13788	0.035000	0.12851	1.503000	0.35715	0.996000	0.38943	0.460000	0.39030	CTC		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
DCANP1	140947	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	134782502	134782502	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:134782502C>T	ENST00000503143.2	-	1	536	c.297G>A	c.(295-297)tcG>tcA	p.S99S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		99						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCTTCACTCGAAAGATTGG	0.592																																						.											0													66.0	70.0	68.0					5																	134782502		2203	4300	6503	SO:0001819	synonymous_variant	140947																														ENST00000503143.2:c.297G>A	5.37:g.134782502C>T				Silent	SNP	ENST00000503143.2	37	CCDS4186.1																																																																																				0.592	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1		
ZAN	7455	broad.mit.edu	37	7	100349927	100349927	+	RNA	DEL	C	C	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349927delC	ENST00000348028.3	+	0	2364				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATCCACCATCTCCCCAGAAA	0.512																																						.											0													133.0	148.0	143.0					7																	100349927		1823	4070	5893			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349927delC			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
COL14A1	7373	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483																																						.											0													95.0	86.0	89.0					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met			Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	rs186909122		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGCAGGGCCTCCGTCAC	0.647																																						.											0													44.0	52.0	50.0					8																	145108284		2081	4210	6291	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
IL11RA	3590	broad.mit.edu	37	9	34658538	34658538	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:34658538G>T	ENST00000555003.1	+	8	2024	c.668G>T	c.(667-669)gGc>gTc	p.G223V	IL11RA_ENST00000602473.1_Missense_Mutation_p.G223V|IL11RA_ENST00000318041.9_Missense_Mutation_p.G223V|IL11RA_ENST00000378817.4_Missense_Mutation_p.G223V|IL11RA_ENST00000441545.2_Missense_Mutation_p.G223V			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	223	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCACCCCAGGGCCTGCGGGTA	0.602																																						.											0													62.0	60.0	60.0					9																	34658538		2203	4300	6503	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.668G>T	9.37:g.34658538G>T	ENSP00000450565:p.Gly223Val		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925777	0.73213	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000555981	T;T;T;T;T;T	0.72505	1.46;1.46;0.93;1.29;1.46;-0.66	5.15	4.19	0.49359	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.419860	0.27262	N	0.020180	T	0.73814	0.3635	L	0.54323	1.7	0.53688	D	0.999973	D;D	0.63880	0.993;0.993	P;P	0.59288	0.855;0.855	T	0.74876	-0.3515	10	0.62326	D	0.03	-19.9792	6.4922	0.22121	0.096:0.1853:0.7187:0.0	.	223;223	Q5VZ79;Q14626	.;I11RA_HUMAN	V	223;223;146;223;223;223	ENSP00000450565:G223V;ENSP00000394391:G223V;ENSP00000452207:G146V;ENSP00000368094:G223V;ENSP00000326500:G223V;ENSP00000450640:G223V	ENSP00000326500:G223V	G	+	2	0	IL11RA	34648538	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.129000	0.42055	2.401000	0.81631	0.563000	0.77884	GGC		0.602	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784	
DCAF10	79269	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	37861212	37861212	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:37861212C>G	ENST00000377724.3	+	7	1752	c.1387C>G	c.(1387-1389)Cat>Gat	p.H463D	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.H426D|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	463					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ACGACTGACTCATTACATTGA	0.488																																						.											0													121.0	112.0	115.0					9																	37861212		2203	4300	6503	SO:0001583	missense	79269			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1387C>G	9.37:g.37861212C>G	ENSP00000366953:p.His463Asp		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392544	0.83011	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.75154	-0.69;-0.91	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.96;0.99	D;D	0.68483	0.923;0.958	T	0.71437	-0.4593	10	0.08381	T	0.77	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	426;463	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	D	463;426	ENSP00000366953:H463D;ENSP00000242323:H426D	ENSP00000242323:H426D	H	+	1	0	DCAF10	37851212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.690000	0.91761	0.655000	0.94253	CAT		0.488	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345	
CXorf21	80231	broad.mit.edu;mdanderson.org	37	X	30577710	30577710	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:30577710G>C	ENST00000378962.3	-	3	1085	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403																																						.											0													99.0	88.0	92.0					X																	30577710		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.763C>G	X.37:g.30577710G>C	ENSP00000368245:p.Gln255Glu			Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313179	0.40895	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.067962	0.64402	D	0.000012	T	0.52917	0.1764	M	0.74881	2.28	0.40146	D	0.976898	P	0.39480	0.675	B	0.29785	0.107	T	0.65389	-0.6180	9	0.72032	D	0.01	-7.5846	12.7882	0.57518	0.0:0.0:0.7183:0.2817	.	255	Q9HAI6	CX021_HUMAN	E	255	.	ENSP00000368245:Q255E	Q	-	1	0	CXorf21	30487631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.931000	0.70113	2.351000	0.79841	0.513000	0.50165	CAA		0.403	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159	
HCFC1	3054	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	153230057	153230057	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:153230057T>C	ENST00000310441.7	-	2	1280	c.314A>G	c.(313-315)aAa>aGa	p.K105R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.K105R|HCFC1_ENST00000369984.4_Missense_Mutation_p.K105R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	105					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTGTATTTCCCATACTC	0.587																																						.											0													172.0	181.0	178.0					X																	153230057		2182	4253	6435	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.314A>G	X.37:g.153230057T>C	ENSP00000309555:p.Lys105Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426077	0.83667	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.43688	0.94;0.94;0.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	N	0.20845	0.615	0.58432	D	0.999997	B	0.23316	0.083	B	0.43274	0.414	T	0.47787	-0.9090	10	0.62326	D	0.03	.	13.4587	0.61214	0.0:0.0:0.0:1.0	.	105	P51610	HCFC1_HUMAN	R	105	ENSP00000309555:K105R;ENSP00000359001:K105R;ENSP00000346174:K105R	ENSP00000309555:K105R	K	-	2	0	HCFC1	152883251	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.887000	0.56197	1.821000	0.53095	0.381000	0.24937	AAA		0.587	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
NUP98	4928	broad.mit.edu	37	11	3793077	3793078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:3793077_3793078insA	ENST00000324932.7	-	7	1104_1105	c.684_685insT	c.(682-687)tttgggfs	p.G229fs	NUP98_ENST00000397004.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000397007.4_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000355260.3_Frame_Shift_Ins_p.G229fs|NUP98_ENST00000359171.4_Frame_Shift_Ins_p.G229fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	229	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGAAGACCCAAACAAGCCAG	0.5			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0																																										SO:0001589	frameshift_variant	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.685dupT	11.37:g.3793080_3793080dupA	ENSP00000316032:p.Gly229fs		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Ins	INS	ENST00000324932.7	37	CCDS7746.1																																																																																				0.500	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
SLC35F2	54733	broad.mit.edu	37	11	107676203	107676204	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:107676203_107676204insA	ENST00000525815.1	-	5	1032_1033	c.612_613insT	c.(610-615)cttgggfs	p.G205fs	SLC35F2_ENST00000375682.4_Frame_Shift_Ins_p.G158fs|SLC35F2_ENST00000525071.1_Frame_Shift_Ins_p.G205fs|SLC35F2_ENST00000265836.7_Frame_Shift_Ins_p.G57fs|SLC35F2_ENST00000429869.1_Frame_Shift_Ins_p.G205fs	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	205					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		AGGGAAGCCCCAAGAAGGACCA	0.465																																						.											0																																										SO:0001589	frameshift_variant	54733				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.613dupT	11.37:g.107676205_107676205dupA	ENSP00000436785:p.Gly205fs		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Frame_Shift_Ins	INS	ENST00000525815.1	37	CCDS41709.1																																																																																				0.465	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	
EXPH5	23086	broad.mit.edu	37	11	108381019	108381020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:108381019_108381020insG	ENST00000265843.4	-	6	5324_5325	c.5214_5215insC	c.(5212-5217)accagcfs	p.S1739fs	EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.S1551fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.S1663fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.S1732fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1739					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCCTGAGGCTGGTGAATGTGA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5215dupC	11.37:g.108381021_108381021dupG	ENSP00000265843:p.Ser1739fs		Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	CCDS8341.1																																																																																				0.490	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
ST14	6768	broad.mit.edu	37	11	130079400	130079401	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:130079400_130079401insC	ENST00000278742.5	+	18	2751_2752	c.2333_2334insC	c.(2332-2337)aacctcfs	p.L779fs		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	779	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCTGCGAGAACCTCCTGCCGC	0.698																																						.											0																																										SO:0001589	frameshift_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2335dupC	11.37:g.130079402_130079402dupC	ENSP00000278742:p.Leu779fs		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Frame_Shift_Ins	INS	ENST00000278742.5	37	CCDS8487.1																																																																																				0.698	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
MAP1A	4130	broad.mit.edu	37	15	43821988	43821989	+	Frame_Shift_Ins	INS	-	-	C	rs200714150		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:43821988_43821989insC	ENST00000300231.5	+	5	8626_8627	c.8176_8177insC	c.(8176-8178)gacfs	p.D2726fs	MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.D2964fs|MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.D2726fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2726					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTGGGAATGACCCTGCCAAT	0.574																																						.											0																																										SO:0001589	frameshift_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	Exception_encountered	15.37:g.43821988_43821989insC	ENSP00000300231:p.Asp2726fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	CCDS42031.1																																																																																				0.574	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
ZNF516	9658	broad.mit.edu	37	18	74153725	74153726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr18:74153725_74153726insC	ENST00000443185.2	-	3	1602_1603	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCGGCCGGCTCGGCCACCTTA	0.713																																						.											0																																										SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1286dupG	18.37:g.74153726_74153726dupC	ENSP00000394757:p.Glu429fs			Frame_Shift_Ins	INS	ENST00000443185.2	37																																																																																					0.713	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
PLEKHA4	57664	broad.mit.edu	37	19	49340604	49340605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:49340604_49340605insG	ENST00000263265.6	-	20	2836_2837	c.2281_2282insC	c.(2281-2283)ctgfs	p.L761fs	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	761						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCTTGTGGCAGGACCGGAGGG	0.663																																						.											0																																										SO:0001589	frameshift_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2282dupC	19.37:g.49340606_49340606dupG	ENSP00000263265:p.Leu761fs		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	CCDS12737.1																																																																																				0.663	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		
FERMT1	55612	broad.mit.edu	37	20	6091014	6091015	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:6091014_6091015insG	ENST00000217289.4	-	5	1464_1465	c.676_677insC	c.(676-678)cagfs	p.Q226fs	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	226	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTGG	0.53																																						.											0			GRCh37	CI040351	FERMT1	I				5,4259		0,5,2127						-3.2	0.0			133	4,8250		0,4,4123	no	frameshift	FERMT1	NM_017671.4		0,9,6250	A1A1,A1R,RR		0.0485,0.1173,0.0719				9,12509				SO:0001589	frameshift_variant	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.677dupC	20.37:g.6091021_6091021dupG	ENSP00000217289:p.Gln226fs		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Frame_Shift_Ins	INS	ENST00000217289.4	37	CCDS13098.1																																																																																				0.530	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	
RBBP9	10741	broad.mit.edu	37	20	18477730	18477731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:18477730_18477731insC	ENST00000337227.4	-	1	156_157	c.81_82insG	c.(79-84)gtgaaafs	p.K28fs	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	28					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						AGCTCCTTTTTCACCCAGCCAT	0.609																																						.											0																																										SO:0001589	frameshift_variant	10741			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.82dupG	20.37:g.18477731_18477731dupC	ENSP00000336866:p.Lys28fs		D3DW31|Q5JPH9|Q9H1D8	Frame_Shift_Ins	INS	ENST00000337227.4	37	CCDS13136.1																																																																																				0.609	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606	
PREX1	57580	broad.mit.edu	37	20	47307517	47307518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:47307517_47307518insC	ENST00000371941.3	-	9	1175_1176	c.1153_1154insG	c.(1153-1155)gatfs	p.D385fs	PREX1_ENST00000396220.1_Frame_Shift_Ins_p.D385fs	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	385	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATGATGGCATCCAGCCACTTC	0.599																																						.											0																																										SO:0001589	frameshift_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1154dupG	20.37:g.47307519_47307519dupC	ENSP00000361009:p.Asp385fs		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Ins	INS	ENST00000371941.3	37	CCDS13410.1																																																																																				0.599	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
RHBDD3	25807	broad.mit.edu	37	22	29661514	29661515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:29661514_29661515insC	ENST00000216085.7	-	3	525_526	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000397938.2_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000331029.7_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	34					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CCAGGCCGGGGCCGGCCCCCAC	0.683																																						.											0																																										SO:0001589	frameshift_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.102dupG	22.37:g.29661516_29661516dupC	ENSP00000216085:p.Gly34fs		Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																				0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265	
ALS2CL	259173	broad.mit.edu	37	3	46728540	46728541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:46728540_46728541insG	ENST00000318962.4	-	5	549_550	c.466_467insC	c.(466-468)cagfs	p.Q156fs	ALS2CL_ENST00000415953.1_Frame_Shift_Ins_p.Q156fs	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	156					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCGAGTGGCTGGTGGAGGGCC	0.678																																						.											0																																										SO:0001589	frameshift_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.467dupC	3.37:g.46728542_46728542dupG	ENSP00000313670:p.Gln156fs		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Frame_Shift_Ins	INS	ENST00000318962.4	37	CCDS2743.1																																																																																				0.678	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	
KIAA2018	205717	broad.mit.edu	37	3	113378994	113378995	+	Frame_Shift_Ins	INS	-	-	G	rs377114570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:113378994_113378995insG	ENST00000478658.1	-	5	1551_1552	c.1534_1535insC	c.(1534-1536)cagfs	p.Q512fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.Q512fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	512						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACTTGTGGCTGGGCAATTAGT	0.441																																						.											0																																										SO:0001589	frameshift_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1535dupC	3.37:g.113378997_113378997dupG	ENSP00000420721:p.Gln512fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	CCDS43133.1																																																																																				0.441	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
GFM1	85476	broad.mit.edu	37	3	158362472	158362473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:158362472_158362473insC	ENST00000486715.1	+	1	406_407	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_ENST00000478576.1_Frame_Shift_Ins_p.A17fs|GFM1_ENST00000264263.5_Frame_Shift_Ins_p.A17fs	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001589	frameshift_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.54dupC	3.37:g.158362477_158362477dupC	ENSP00000419038:p.Ala17fs	1793		Frame_Shift_Ins	INS	ENST00000486715.1	37	CCDS33885.1																																																																																				0.649	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	
HLA-B	3106	broad.mit.edu	37	6	31324488	31324489	+	Frame_Shift_Ins	INS	-	-	GG	rs554035740|rs375356947|rs3180380|rs41552715	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324488_31324489insGG	ENST00000412585.2	-	2	347_348	c.319_320insCC	c.(319-321)ggcfs	p.G107fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	107	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTTGTAGTAGCCGCGCAGGTTC	0.683									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0										902,3226		186,530,1348						2.3	0.1		dbSNP_130	41	1339,6747		223,893,2927	no	frameshift	HLA-B	NM_005514.6		409,1423,4275	A1A1,A1R,RR		16.5595,21.8508,18.3478				2241,9973				SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.319_320insCC	6.37:g.31324488_31324489insGG	ENSP00000399168:p.Gly107fs		Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				0.683	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HIP1	3092	broad.mit.edu	37	7	75187548	75187549	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75187548_75187549insT	ENST00000336926.6	-	15	1412_1413	c.1386_1387insA	c.(1384-1389)caagccfs	p.A463fs	HIP1_ENST00000434438.2_Frame_Shift_Ins_p.A463fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	463	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTTCATTGGCTTGAGCTTTCC	0.535			T	PDGFRB	CMML																																	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0																																										SO:0001589	frameshift_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1387dupA	7.37:g.75187550_75187550dupT	ENSP00000336747:p.Ala463fs		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Ins	INS	ENST00000336926.6	37	CCDS34669.1																																																																																				0.535	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
NYAP1	222950	broad.mit.edu	37	7	100084672	100084673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100084672_100084673insG	ENST00000300179.2	+	3	456_457	c.297_298insG	c.(298-300)gggfs	p.G100fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G100fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G43fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	100	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTGGCCCTGGCGGGGCCAGTGG	0.723																																						.											0																																										SO:0001589	frameshift_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.301dupG	7.37:g.100084676_100084676dupG	ENSP00000300179:p.Gly100fs		Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	ENST00000300179.2	37	CCDS5696.1																																																																																				0.723	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
ZAN	7455	broad.mit.edu	37	7	100349931	100349932	+	RNA	INS	-	-	T	rs376016003		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349931_100349932insT	ENST00000348028.3	+	0	2368_2369				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACCC	0.515																																						.											0																																												7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349931_100349932insT			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.515	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
KRBA1	84626	broad.mit.edu	37	7	149430350	149430351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:149430350_149430351insC	ENST00000485033.2	+	15	2124_2125	c.2124_2125insC	c.(2125-2127)cccfs	p.P709fs	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.P709fs|KRBA1_ENST00000255992.10_Frame_Shift_Ins_p.P769fs			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	770	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGAGTCTCCCCCTCCGGA	0.653																																						.											0																																										SO:0001589	frameshift_variant	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2129dupC	7.37:g.149430355_149430355dupC	ENSP00000420112:p.Pro709fs		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Ins	INS	ENST00000485033.2	37																																																																																					0.653	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	
HR	55806	broad.mit.edu	37	8	21980059	21980060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:21980059_21980060insG	ENST00000381418.4	-	8	3547_3548	c.2067_2068insC	c.(2065-2070)cactgcfs	p.C690fs	HR_ENST00000312841.8_Frame_Shift_Ins_p.C690fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	690					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGCAGGGGCAGTGCCCCCGGA	0.639																																						.											0																																										SO:0001589	frameshift_variant	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2068dupC	8.37:g.21980060_21980060dupG	ENSP00000370826:p.Cys690fs		Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Ins	INS	ENST00000381418.4	37	CCDS6022.1																																																																																				0.639	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
SYTL4	94121	broad.mit.edu	37	X	99942167	99942168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:99942167_99942168insA	ENST00000372989.1	-	13	1411_1412	c.1080_1081insT	c.(1078-1083)attgccfs	p.A361fs	SYTL4_ENST00000276141.6_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000454200.2_Frame_Shift_Ins_p.A363fs|SYTL4_ENST00000455616.1_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000263033.5_Frame_Shift_Ins_p.A361fs|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	361	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGGAAAAGGCAATCCTGCCAG	0.495																																						.											0																																										SO:0001589	frameshift_variant	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1081dupT	X.37:g.99942169_99942169dupA	ENSP00000362080:p.Ala361fs		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Frame_Shift_Ins	INS	ENST00000372989.1	37	CCDS14472.1																																																																																				0.495	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
NXF4	55999	broad.mit.edu	37	X	101818923	101818924	+	RNA	INS	-	-	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:101818923_101818924insG	ENST00000360035.2	+	0	1207_1208					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GAGCTATGGCTGGAAGGGAACT	0.559																																						.											0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101818925_101818925dupG				RNA	INS	ENST00000360035.2	37																																																																																					0.559	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1		
C7orf50	84310	ucsc.edu	37	7	1167008	1167008	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:1167008T>C	ENST00000397098.3	-	2	940	c.14A>G	c.(13-15)aAg>aGg	p.K5R	C7orf50_ENST00000397100.2_Missense_Mutation_p.K5R|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5R|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	5							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		AACTTTTCTCTTCTGTTTTGC	0.443																																						.											0													60.0	53.0	55.0					7																	1167008		2203	4300	6503	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.14A>G	7.37:g.1167008T>C	ENSP00000380286:p.Lys5Arg			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.543912	0.45280	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.68	3.68	0.42216	.	0.069851	0.53938	D	0.000047	T	0.36110	0.0955	L	0.27053	0.805	0.26005	N	0.98206	D	0.67145	0.996	P	0.57679	0.825	T	0.07635	-1.0762	9	0.37606	T	0.19	-16.775	9.0127	0.36150	0.0:0.0:0.0:1.0	.	5	Q9BRJ6	CG050_HUMAN	R	5	.	ENSP00000350011:K5R	K	-	2	0	C7orf50	1133534	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.740000	0.47418	1.902000	0.55061	0.533000	0.62120	AAG		0.443	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350	
CEP95	90799	ucsc.edu;bcgsc.ca	37	17	62521946	62521946	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:62521946T>C	ENST00000556440.2	+	9	1478	c.968T>C	c.(967-969)gTa>gCa	p.V323A	CEP95_ENST00000553412.1_Missense_Mutation_p.V159A	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	323						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAATGGGAAGTATATCCAGCT	0.383																																						.											0													72.0	70.0	70.0					17																	62521946		1846	4097	5943	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.968T>C	17.37:g.62521946T>C	ENSP00000450461:p.Val323Ala		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375115	0.24857	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.36878	1.23;1.23	5.1	-4.85	0.03142	.	1.411470	0.03847	N	0.271690	T	0.20373	0.0490	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	10	0.16420	T	0.52	3.826	7.8451	0.29421	0.1351:0.5551:0.0:0.3097	.	323	Q96GE4	CEP95_HUMAN	A	258;323;159	ENSP00000450461:V323A;ENSP00000450906:V159A	ENSP00000438458:V258A	V	+	2	0	CEP95	59952408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.385000	0.07379	-0.677000	0.05231	-1.069000	0.02264	GTA		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
PPP6R2	9701	ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50832465	50832465	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:50832465A>T	ENST00000216061.5	+	4	498	c.128A>T	c.(127-129)aAg>aTg	p.K43M	PPP6R2_ENST00000359139.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395744.3_Missense_Mutation_p.K43M|PPP6R2_ENST00000395741.3_Missense_Mutation_p.K43M			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	43						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGAACCAGAAGCTGCTGGAC	0.552																																						.											0													162.0	145.0	150.0					22																	50832465		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.128A>T	22.37:g.50832465A>T	ENSP00000216061:p.Lys43Met		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	A	19.01	3.744168	0.69418	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.43	3.32	0.38043	.	0.166665	0.49305	D	0.000158	T	0.64227	0.2579	M	0.79123	2.44	0.38371	D	0.944877	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0	D;P;D;D;D	0.75484	0.957;0.906;0.986;0.957;0.986	T	0.67868	-0.5559	10	0.87932	D	0	-27.622	7.1525	0.25618	0.7508:0.0:0.2492:0.0	.	43;43;43;43;43	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	M	43	ENSP00000352051:K43M;ENSP00000379090:K43M;ENSP00000379093:K43M;ENSP00000216061:K43M	ENSP00000216061:K43M	K	+	2	0	PPP6R2	49179331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.829000	0.48128	0.898000	0.36418	0.477000	0.44152	AAG		0.552	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
SYNE1	23345	ucsc.edu	37	6	152577848	152577848	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:152577848T>C	ENST00000367255.5	-	102	19626	c.19025A>G	c.(19024-19026)gAc>gGc	p.D6342G	SYNE1_ENST00000448038.1_Missense_Mutation_p.D6271G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5954G|SYNE1_ENST00000356820.4_Missense_Mutation_p.D866G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6342G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6271G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6342					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTGGCACGTCCCCTTTGTA	0.473										HNSCC(10;0.0054)																												.											0													179.0	149.0	159.0					6																	152577848		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19025A>G	6.37:g.152577848T>C	ENSP00000356224:p.Asp6342Gly		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271004	0.40194	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55760	0.6;0.59;0.5;0.59;0.7;2.56	5.29	5.29	0.74685	.	0.398931	0.23718	N	0.045244	T	0.28962	0.0719	L	0.29908	0.895	0.40582	D	0.981402	B;B;P	0.36959	0.44;0.44;0.575	B;B;B	0.33620	0.08;0.08;0.167	T	0.34976	-0.9807	10	0.66056	D	0.02	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	6342;6342;6271	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	6342;6271;6342;6271;5954;866	ENSP00000356224:D6342G;ENSP00000396024:D6271G;ENSP00000265368:D6342G;ENSP00000390975:D6271G;ENSP00000341887:D5954G;ENSP00000349276:D866G	ENSP00000265368:D6342G	D	-	2	0	SYNE1	152619541	1.000000	0.71417	0.487000	0.27428	0.370000	0.29829	6.003000	0.70701	2.128000	0.65567	0.528000	0.53228	GAC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
ABCA7	10347	mdanderson.org	37	19	1047002	1047002	+	Silent	SNP	A	A	G	rs3752234	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1047002A>G	ENST00000263094.6	+	14	2055	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A	ABCA7_ENST00000435683.2_Silent_p.A470A|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.A608A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	608					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCGCCGCACTGCTGGTTC	0.726													G|||	2899	0.578874	0.4637	0.7104	5008	,	,		13766	0.75		0.5199	False		,,,				2504	0.5256					.											0										2219,2141		606,1007,567	14.0	13.0	13.0		1824	-2.7	0.3	19	dbSNP_107	13	4663,3873		1348,1967,953	no	coding-synonymous	ABCA7	NM_019112.3		1954,2974,1520	GG,GA,AA		45.3725,49.1055,46.6346		608/2147	1047002	6882,6014	2180	4268	6448	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1824A>G	19.37:g.1047002A>G			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
ACTR3B	57180	mdanderson.org	37	7	152522195	152522195	+	Silent	SNP	C	C	T	rs200914813	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:152522195C>T	ENST00000256001.8	+	9	1073	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ACTR3B_ENST00000537264.1_Silent_p.R225R|ACTR3B_ENST00000397282.2_Silent_p.R225R|ACTR3B_ENST00000377776.3_Silent_p.R313R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ATGTGCGGCGCCCGCTGTATA	0.413																																						.											0													85.0	79.0	81.0					7																	152522195		2203	4300	6503	SO:0001819	synonymous_variant	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.939C>T	7.37:g.152522195C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																				0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445	
ADAM21	8747	mdanderson.org	37	14	70924566	70924566	+	Missense_Mutation	SNP	C	C	G	rs3829452	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:70924566C>G	ENST00000603540.1	+	2	608	c.350C>G	c.(349-351)gCa>gGa	p.A117G	ADAM21_ENST00000267499.3_Missense_Mutation_p.A117G|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	117				A -> G (in Ref. 1; AAD55255 and 3; AAI09025/AAI09026). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A117G(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TACGTGGAGGCAGCCCCTGAG	0.488													C|||	1854	0.370208	0.4947	0.2161	5008	,	,		17161	0.5734		0.2207	False		,,,				2504	0.2556					.											1	Substitution - Missense(1)	stomach(1)											93.0	126.0	115.0					14																	70924566		2199	4300	6499	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.350C>G	14.37:g.70924566C>G	ENSP00000474385:p.Ala117Gly		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	577	0.2641941391941392	150	0.3048780487804878	67	0.1850828729281768	267	0.46678321678321677	93	0.12269129287598944	C	0.001	-2.913798	0.00056	.	.	ENSG00000139985	ENST00000267499	T	0.03689	3.84	3.76	2.86	0.33363	Peptidase M12B, propeptide (1);	0.156559	0.28908	N	0.013758	T	0.00012	0.0000	N	0.00004	-3.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	9	0.02654	T	1	.	12.0431	0.53464	0.0:0.1746:0.8254:0.0	rs3829452;rs11531313;rs57973896	117	Q9UKJ8	ADA21_HUMAN	G	117	ENSP00000267499:A117G	ENSP00000267499:A117G	A	+	2	0	ADAM21	69994319	0.987000	0.35691	0.013000	0.15412	0.010000	0.07245	2.053000	0.41326	0.922000	0.37019	-0.234000	0.12200	GCA		0.488	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAMTS7	11173	mdanderson.org	37	15	79067063	79067063	+	Silent	SNP	A	A	G	rs117662146	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:79067063A>G	ENST00000388820.4	-	12	1989	c.1779T>C	c.(1777-1779)ccT>ccC	p.P593P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P593P(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGGCCAGCAGGGCAGGCCT	0.642																																						.											2	Substitution - coding silent(2)	prostate(2)											51.0	58.0	55.0					15																	79067063		2196	4293	6489	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1779T>C	15.37:g.79067063A>G			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ADAT3	113179	mdanderson.org	37	19	1912251	1912251	+	Missense_Mutation	SNP	A	A	G	rs150715312	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1912251A>G	ENST00000602400.1	+	2	385	c.157A>G	c.(157-159)Aag>Gag	p.K53E	ADAT3_ENST00000329478.2_Missense_Mutation_p.K69E|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	53					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		CGTCCTGGACAAGCGCCAGAC	0.731													A|||	14	0.00279553	0.0008	0.0072	5008	,	,		11791	0.0		0.008	False		,,,				2504	0.0					.											0								A	,GLU/LYS	19,4335		0,19,2158	12.0	13.0	13.0		,157	3.8	0.9	19	dbSNP_134	13	144,8388		0,144,4122	yes	intron,missense	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,56	0,163,6280	GG,GA,AA		1.6878,0.4364,1.2649	,probably-damaging	,53/352	1912251	163,12723	2177	4266	6443	SO:0001583	missense	113179			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.157A>G	19.37:g.1912251A>G	ENSP00000473571:p.Lys53Glu			Missense_Mutation	SNP	ENST00000602400.1	37		9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	a	15.08	2.726322	0.48833	0.004364	0.016878	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.81	3.79	0.43588	.	0.168491	0.50627	D	0.000108	T	0.41119	0.1145	M	0.69185	2.1	0.41829	D	0.990062	P	0.40970	0.734	B	0.42798	0.398	T	0.52034	-0.8629	9	0.56958	D	0.05	-18.1231	9.6141	0.39681	0.797:0.203:0.0:0.0	.	53	Q96EY9	ADAT3_HUMAN	E	53	.	ENSP00000332448:K53E	K	+	1	0	ADAT3	1863251	1.000000	0.71417	0.864000	0.33941	0.072000	0.16883	2.446000	0.44908	0.712000	0.32039	0.523000	0.50628	AAG		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422	
AGGF1	55109	mdanderson.org	37	5	76332468	76332468	+	Missense_Mutation	SNP	G	G	T	rs72765108		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:76332468G>T	ENST00000312916.7	+	4	986	c.604G>T	c.(604-606)Gta>Tta	p.V202L		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	202					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.V202L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGAAGCGGCTGTATCACAGAC	0.393																																						.											1	Substitution - Missense(1)	lung(1)											76.0	76.0	76.0					5																	76332468		2203	4300	6503	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.604G>T	5.37:g.76332468G>T	ENSP00000316109:p.Val202Leu		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538478	0.27475	.	.	ENSG00000164252	ENST00000312916	D	0.86562	-2.14	5.09	5.09	0.68999	.	0.059063	0.64402	D	0.000003	T	0.79476	0.4452	N	0.17800	0.525	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.73411	-0.3991	9	.	.	.	-14.9137	18.4903	0.90844	0.0:0.0:1.0:0.0	.	202	Q8N302	AGGF1_HUMAN	L	202	ENSP00000316109:V202L	.	V	+	1	0	AGGF1	76368224	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	5.196000	0.65136	2.363000	0.80096	0.585000	0.79938	GTA		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
AQP12B	653437	mdanderson.org	37	2	241621869	241621869	+	Missense_Mutation	SNP	G	G	A	rs74882485	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:241621869G>A	ENST00000407834.3	-	1	448	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	117						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-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;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGAGGCGCGTCAGGGTGCA	0.697																																						.											0													24.0	24.0	24.0					2																	241621869		2196	4279	6475	SO:0001583	missense	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.386C>T	2.37:g.241621869G>A	ENSP00000384894:p.Thr129Met		A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	7.337	0.620131	0.14193	.	.	ENSG00000185176	ENST00000407834	T	0.15017	2.46	2.84	1.94	0.25998	.	0.293024	0.38492	N	0.001671	T	0.26810	0.0656	.	.	.	0.80722	P	0.0	D	0.71674	0.998	P	0.61592	0.891	T	0.30995	-0.9959	8	0.28530	T	0.3	-0.0254	8.3053	0.32038	0.1286:0.0:0.8714:0.0	.	129	A6NM10-2	.	M	129	ENSP00000384894:T129M	ENSP00000384894:T129M	T	-	2	0	AQP12B	241270542	0.997000	0.39634	0.002000	0.10522	0.132000	0.20833	5.268000	0.65536	0.748000	0.32831	0.473000	0.43528	ACG		0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1		
C1QTNF9B	387911	mdanderson.org	37	13	24465623	24465623	+	Silent	SNP	G	G	A	rs4083570		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:24465623G>A	ENST00000382140.2	-	5	867	c.807C>T	c.(805-807)aaC>aaT	p.N269N	C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.T98M|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.T98M|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382137.3_Silent_p.N269N|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	269	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTTTTACTCCGTTTTTGACCA	0.507																																						.											0													137.0	117.0	124.0					13																	24465623		2203	4300	6503	SO:0001819	synonymous_variant	387911			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.807C>T	13.37:g.24465623G>A			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.002413	0.00431	.	.	ENSG00000205863	ENST00000382145;ENST00000382057	D;D	0.89343	-2.5;-2.5	3.96	-5.77	0.02369	.	.	.	.	.	D	0.88351	0.6413	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	T	0.82481	-0.0436	6	0.52906	T	0.07	.	15.0983	0.72253	0.4662:0.0:0.5338:0.0	rs4083570	.	.	.	M	98	ENSP00000371580:T98M;ENSP00000371489:T98M	ENSP00000371489:T98M	T	-	2	0	C1QTNF9B	23363623	0.000000	0.05858	0.269000	0.24586	0.053000	0.15095	-1.610000	0.02064	-1.672000	0.01464	-2.013000	0.00436	ACG		0.507	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537	
CDC27	996	mdanderson.org	37	17	45234650	45234650	+	Silent	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:45234650A>G	ENST00000066544.3	-	6	669	c.576T>C	c.(574-576)agT>agC	p.S192S	CDC27_ENST00000527547.1_Silent_p.S192S|CDC27_ENST00000446365.2_Silent_p.S131S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.S192S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGTGAGATAAACTATGATTAG	0.373																																						.											0													67.0	67.0	67.0					17																	45234650		2203	4300	6503	SO:0001819	synonymous_variant	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.576T>C	17.37:g.45234650A>G			G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CRIPAK	285464	mdanderson.org	37	4	1389148	1389148	+	Silent	SNP	T	T	C	rs35123539|rs79888804	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:1389148T>C	ENST00000324803.4	+	1	3809	c.849T>C	c.(847-849)caT>caC	p.H283H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	283					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACATGTGCCGATGT	0.682													c|||	53	0.0105831	0.0113	0.0086	5008	,	,		13167	0.006		0.0159	False		,,,				2504	0.0102					.											0								C		48,4356		1,46,2155	141.0	138.0	139.0		849	-0.2	0.0	4	dbSNP_131	139	185,8415		4,177,4119	no	coding-synonymous	CRIPAK	NM_175918.3		5,223,6274	CC,CT,TT		2.1512,1.0899,1.7918		283/447	1389148	233,12771	2202	4300	6502	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.849T>C	4.37:g.1389148T>C			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CYP11B1	1584	mdanderson.org	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs5293	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000517471.1_Silent_p.L382L|CYP11B1_ENST00000377675.3_Silent_p.L453L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ACTCGCTCCAGAAACAGACCC	0.607									Familial Hyperaldosteronism type I				.|||	14	0.00279553	0.0008	0.0043	5008	,	,		15997	0.0		0.006	False		,,,				2504	0.0041					.											1	Substitution - coding silent(1)	lung(1)											61.0	61.0	61.0					8																	143956706		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1144C>T	8.37:g.143956706G>A			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
CYP2A13	1553	mdanderson.org	37	19	41595958	41595958	+	Missense_Mutation	SNP	C	C	T	rs75703079		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:41595958C>T	ENST00000330436.3	+	3	350	c.350C>T	c.(349-351)gCg>gTg	p.A117V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	117					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CCAGGCGTGGCGTTCAGCAAC	0.692																																						.											0													14.0	15.0	15.0					19																	41595958		2195	4286	6481	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.350C>T	19.37:g.41595958C>T	ENSP00000332679:p.Ala117Val		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	1.000	-0.691113	0.03303	.	.	ENSG00000197838	ENST00000330436	T	0.67865	-0.29	3.37	2.29	0.28610	.	0.670897	0.14479	N	0.317025	T	0.38453	0.1041	N	0.05012	-0.13	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.17715	-1.0360	10	0.06757	T	0.87	.	10.1062	0.42535	0.0:0.8927:0.0:0.1073	.	117	Q16696	CP2AD_HUMAN	V	117	ENSP00000332679:A117V	ENSP00000332679:A117V	A	+	2	0	CYP2A13	46287798	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.502000	0.02279	0.730000	0.32425	0.282000	0.19409	GCG		0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
DSPP	1834	mdanderson.org	37	4	88536953	88536953	+	Missense_Mutation	SNP	G	G	A	rs200486992		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:88536953G>A	ENST00000282478.7	+	4	3172	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1047N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1047	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgatagcagtga	0.527																																						.											0													46.0	57.0	53.0					4																	88536953		1537	2773	4310	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3139G>A	4.37:g.88536953G>A	ENSP00000282478:p.Asp1047Asn		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	3.566	-0.088574	0.07097	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	1.51	-1.84	0.07809	.	.	.	.	.	T	0.78355	0.4270	L	0.34521	1.04	0.09310	N	1	B	0.26708	0.157	B	0.08055	0.003	T	0.61637	-0.7022	9	0.38643	T	0.18	.	5.2365	0.15448	0.5606:0.0:0.4394:0.0	.	1047	Q9NZW4	DSPP_HUMAN	N	1047	ENSP00000382213:D1047N;ENSP00000282478:D1047N	ENSP00000282478:D1047N	D	+	1	0	DSPP	88755977	0.032000	0.19561	0.079000	0.20413	0.006000	0.05464	0.451000	0.21779	-0.607000	0.05738	-0.791000	0.03333	GAT		0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DTX2	113878	mdanderson.org	37	7	76112348	76112348	+	Silent	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:76112348C>G	ENST00000324432.5	+	5	1302	c.792C>G	c.(790-792)acC>acG	p.T264T	DTX2_ENST00000307569.8_Silent_p.T264T|DTX2_ENST00000446600.1_Silent_p.T173T|DTX2_ENST00000446820.2_Silent_p.T264T|DTX2_ENST00000430490.2_Silent_p.T264T|DTX2_ENST00000413936.2_Silent_p.T264T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	264					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGAACACCACCAACGCCTGGG	0.672																																						.											0													66.0	77.0	74.0					7																	76112348		2203	4300	6503	SO:0001819	synonymous_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.792C>G	7.37:g.76112348C>G			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																				0.672	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
EPPK1	83481	mdanderson.org	37	8	144940378	144940378	+	Silent	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:144940378G>A	ENST00000525985.1	-	2	7115	c.7044C>T	c.(7042-7044)gtC>gtT	p.V2348V				P58107	EPIPL_HUMAN	epiplakin 1	2348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGTCGATGACGCCGCCCG	0.701																																						.											0													194.0	188.0	190.0					8																	144940378		2168	4240	6408	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7044C>T	8.37:g.144940378G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
ERCC6L2	375748	mdanderson.org	37	9	98638288	98638288	+	Start_Codon_SNP	SNP	A	A	G	rs690528	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:98638288A>G	ENST00000288985.7	+	1	306	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LINC00476_ENST00000429781.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CGGGTGTTACATGCAGCCGGG	0.726													G|||	1264	0.252396	0.1029	0.2896	5008	,	,		15448	0.3423		0.3082	False		,,,				2504	0.2781					.											0								G	VAL/MET	561,3725		45,471,1627	7.0	9.0	8.0		1	-3.7	0.0	9	dbSNP_83	8	2502,5908		422,1658,2125	no	missense	C9orf102	NM_001010895.2	21	467,2129,3752	GG,GA,AA		29.7503,13.0891,24.1257	benign	1/713	98638288	3063,9633	2143	4205	6348	SO:0001582	initiator_codon_variant	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1A>G	9.37:g.98638288A>G	ENSP00000288985:p.Met1Val		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	608	0.2783882783882784	64	0.13008130081300814	111	0.30662983425414364	196	0.34265734265734266	237	0.31266490765171506	G	0.019	-1.460743	0.01062	0.130891	0.297503	ENSG00000182150	ENST00000288985	D	0.89050	-2.46	3.26	-3.74	0.04385	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.06092	-1.0846	7	0.87932	D	0	.	6.0461	0.19760	0.473:0.1408:0.3862:0.0	rs690528;rs13301906;rs16910324;rs61146597	1	Q5T890	RAD26_HUMAN	V	1	ENSP00000288985:M1V	ENSP00000288985:M1V	M	+	1	0	C9orf102	97678109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.059000	0.11731	-1.326000	0.02266	-1.988000	0.00451	ATG		0.726	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	Missense_Mutation
FAM150A	389658	mdanderson.org	37	8	53477780	53477780	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:53477780G>C	ENST00000358543.4	-	1	287	c.37C>G	c.(37-39)Ctc>Gtc	p.L13V	FAM150A_ENST00000523939.1_Missense_Mutation_p.L13V	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	13						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGCAGGAAGAGTGCGGGCAAA	0.716																																						.											0													2.0	3.0	3.0					8																	53477780		1704	3379	5083	SO:0001583	missense	389658				CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.37C>G	8.37:g.53477780G>C	ENSP00000351345:p.Leu13Val		B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574998	0.28092	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	2.65	1.76	0.24704	.	0.282155	0.21875	U	0.067834	T	0.32406	0.0828	N	0.24115	0.695	0.09310	N	1	D;D	0.60160	0.987;0.974	P;P	0.56088	0.791;0.671	T	0.06698	-1.0812	9	0.72032	D	0.01	.	5.4181	0.16386	0.1615:0.0:0.8385:0.0	.	13;13	B7ZMG9;Q6UXT8	.;F150A_HUMAN	V	13	.	ENSP00000351345:L13V	L	-	1	0	FAM150A	53640333	0.006000	0.16342	0.008000	0.14137	0.030000	0.12068	0.943000	0.29030	0.666000	0.31087	0.467000	0.42956	CTC		0.716	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413	
ERICH6	131831	mdanderson.org	37	3	150421527	150421527	+	Silent	SNP	C	C	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:150421527C>T	ENST00000295910.6	-	1	211	c.159G>A	c.(157-159)gaG>gaA	p.E53E	RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														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						ccaccacctcctcctcctcct	0.602																																						.											0																																										SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.159G>A	3.37:g.150421527C>T				Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				0.602	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
FFAR1	2864	mdanderson.org	37	19	35843086	35843086	+	Missense_Mutation	SNP	G	G	A	rs2301151	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:35843086G>A	ENST00000246553.2	+	1	642	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	211			R -> H (in dbSNP:rs2301151). {ECO:0000269|PubMed:15489334}.		energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCACTGGCCCGCTCCGGCCTG	0.697													A|||	4405	0.879593	0.9902	0.8746	5008	,	,		14480	0.8056		0.7714	False		,,,				2504	0.9213					.											0			GRCh37	CM057586	FFAR1	M	rs2301151	A	HIS/ARG	4166,218		1978,210,4	15.0	15.0	15.0		632	-4.6	0.4	19	dbSNP_100	15	6689,1893		2621,1447,223	yes	missense	FFAR1	NM_005303.2	29	4599,1657,227	AA,AG,GG		22.0578,4.9726,16.281	benign	211/301	35843086	10855,2111	2192	4291	6483	SO:0001583	missense	2864			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.632G>A	19.37:g.35843086G>A	ENSP00000246553:p.Arg211His		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	1787	0.8182234432234432	481	0.9776422764227642	301	0.8314917127071824	436	0.7622377622377622	569	0.7506596306068601	A	3.093	-0.186384	0.06340	0.950274	0.779422	ENSG00000126266	ENST00000246553	T	0.43688	0.94	4.1	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.710890	0.12507	N	0.462804	T	0.00012	0.0000	N	0.12746	0.255	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.19614	-1.0300	9	0.39692	T	0.17	-1.514	9.798	0.40746	0.2797:0.0:0.6033:0.117	rs2301151;rs17705375;rs2301151	211	O14842	FFAR1_HUMAN	H	211	ENSP00000246553:R211H	ENSP00000246553:R211H	R	+	2	0	FFAR1	40534926	0.004000	0.15560	0.443000	0.26883	0.215000	0.24574	0.285000	0.18883	-1.498000	0.01824	-1.327000	0.01280	CGC		0.697	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303	
FRG1	2483	mdanderson.org	37	4	190876210	190876210	+	Silent	SNP	C	C	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:190876210C>G	ENST00000226798.4	+	5	558	c.336C>G	c.(334-336)ggC>ggG	p.G112G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	112					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAGTCTGGCTATGGAAAAT	0.358																																						.											0													54.0	53.0	53.0					4																	190876210		2203	4300	6503	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.336C>G	4.37:g.190876210C>G			A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
GPRIN2	9721	mdanderson.org	37	10	47000239	47000239	+	Silent	SNP	C	C	T	rs7912299	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:47000239C>T	ENST00000374317.1	+	3	1632	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GPRIN2_ENST00000374314.4_Silent_p.S453S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	453										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCGGCTGCTCCGGCGCGGCCC	0.746													C|||	2586	0.516374	0.5227	0.5159	5008	,	,		29285	0.5099		0.5159	False		,,,				2504	0.5153					.											0																																										SO:0001819	synonymous_variant	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1359C>T	10.37:g.47000239C>T			Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																				0.746	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
HLA-A	3105	mdanderson.org	37	6	29911240	29911240	+	Nonsense_Mutation	SNP	T	T	A	rs9260156	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:29911240T>A	ENST00000396634.1	+	5	880	c.539T>A	c.(538-540)tTg>tAg	p.L180*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.L180*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.L180*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	180	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)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L180*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGGAGCAGTTGAGAGCCTAC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			N|||	1145	0.228634	0.025	0.2017	5008	,	,		12147	0.4732		0.1581	False		,,,				2504	0.3436					.											1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											40.0	29.0	33.0					6																	29911240		1509	2695	4204	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.539T>A	6.37:g.29911240T>A	ENSP00000379873:p.Leu180*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	605|605	0.27701465201465203|0.27701465201465203	57|57	0.11585365853658537|0.11585365853658537	97|97	0.26795580110497236|0.26795580110497236	282|282	0.493006993006993|0.493006993006993	169|169	0.22295514511873352|0.22295514511873352	.|.	25.5|25.5	4.639572|4.639572	0.87760|0.87760	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802|ENST00000355767	.|.	.|.	.|.	3.78|3.78	-7.56|-7.56	0.01322|0.01322	.|.	4.873430|.	0.01566|.	U|.	0.020372|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	P|P	0.999999999738598|0.999999999738598	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.7832|6.7832	0.23659|0.23659	0.5534:0.0:0.1127:0.3339|0.5534:0.0:0.1127:0.3339	rs9260156;rs11539955;rs16896023;rs41555815|rs9260156;rs11539955;rs16896023;rs41555815	.|.	.|.	.|.	X|R	180|155	.|.	.|.	L|X	+|+	2|1	0|0	HLA-A|HLA-A	30019219|30019219	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-12.720000|-12.720000	0.00001|0.00001	-3.712000|-3.712000	0.00117|0.00117	-2.599000|-2.599000	0.00162|0.00162	TTG|TGA		0.667	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	
HLA-B	3106	mdanderson.org	37	6	31324208	31324208	+	Missense_Mutation	SNP	G	G	T	rs12721829	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324208G>T	ENST00000412585.2	-	3	383	c.355C>A	c.(355-357)Ctc>Atc	p.L119I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	119	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ATGCTCTGGAGGGTGTGAGAC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													13.0	12.0	13.0					6																	31324208		1847	3958	5805	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.355C>A	6.37:g.31324208G>T	ENSP00000399168:p.Leu119Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	552	0.25274725274725274	118	0.23983739837398374	91	0.2513812154696133	125	0.21853146853146854	218	0.287598944591029	N	2.641	-0.284193	0.05605	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00892	5.57;5.57	3.18	-6.36	0.01969	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	1978.090000	0.00496	N	0.000156	T	0.00039	0.0001	N	0.00251	-1.775	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.17433	0.014;0.018	T	0.48990	-0.8985	9	0.02654	T	1	.	0.6914	0.00892	0.2255:0.1723:0.3005:0.3017	rs12721829;rs17362043;rs17413629	119;119	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	119;130	ENSP00000399168:L119I;ENSP00000405931:L130I	ENSP00000399168:L119I	L	-	1	0	HLA-B	31432187	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-11.162000	0.00004	-4.716000	0.00035	-2.639000	0.00152	CTC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HLA-B	3106	mdanderson.org	37	6	31324210	31324210	+	Missense_Mutation	SNP	G	G	A	rs12721827	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324210G>A	ENST00000412585.2	-	3	381	c.353C>T	c.(352-354)aCc>aTc	p.T118I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	118	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCTGGAGGGTGTGAGACCC	0.687									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													13.0	12.0	12.0					6																	31324210		1874	3989	5863	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.353C>T	6.37:g.31324210G>A	ENSP00000399168:p.Thr118Ile		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	547	0.25045787545787546	118	0.23983739837398374	90	0.24861878453038674	127	0.22202797202797203	212	0.2796833773087071	N	9.818	1.185018	0.21870	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00012	9.29;9.29	3.15	2.27	0.28462	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.000000	0.37095	U	0.002257	T	0.00073	0.0002	M	0.86268	2.805	0.53005	P	3.399999999997849E-5	B;B	0.20550	0.046;0.011	B;B	0.39119	0.201;0.291	T	0.08827	-1.0703	9	0.52906	T	0.07	.	8.4711	0.32986	0.1204:0.0:0.8796:0.0	rs12721827;rs17416961	118;118	P30480;P01889	1B42_HUMAN;1B07_HUMAN	I	118;129	ENSP00000399168:T118I;ENSP00000405931:T129I	ENSP00000399168:T118I	T	-	2	0	HLA-B	31432189	0.988000	0.35896	0.715000	0.30552	0.003000	0.03518	2.069000	0.41481	0.697000	0.31718	-0.722000	0.03604	ACC		0.687	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HLA-DQB2	3120	mdanderson.org	37	6	32726772	32726772	+	Silent	SNP	G	G	A	rs200147031		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:32726772G>A	ENST00000437316.2	-	3	564	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HLA-DQB2_ENST00000411527.1_Silent_p.A167A|HLA-DQB2_ENST00000435145.2_Silent_p.A167A			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	171	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACACAACACCGGCTGTCTCCT	0.547																																						.											0																																										SO:0001819	synonymous_variant	3120			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.501C>T	6.37:g.32726772G>A			A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37		.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445141	0.04604	.	.	ENSG00000232629	ENST00000427449	.	.	.	3.43	-4.55	0.03441	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.28648	N	0.906781	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9433	0.13976	0.3541:0.3084:0.3376:0.0	.	.	.	.	L	166	.	.	P	-	2	0	HLA-DQB2	32834750	0.000000	0.05858	0.601000	0.28877	0.295000	0.27426	-1.774000	0.01784	-0.898000	0.03906	-0.339000	0.08088	CCG		0.547	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2		
HLA-DQB2	3120	mdanderson.org	37	6	32726774	32726774	+	Missense_Mutation	SNP	C	C	T	rs200716952		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:32726774C>T	ENST00000437316.2	-	3	562	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A167T			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	171	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)	p.A167T(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACAACACCGGCTGTCTCCTCC	0.542																																						.											1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	3120			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.499G>A	6.37:g.32726774C>T	ENSP00000396330:p.Ala167Thr		A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37		.	.	.	.	.	.	.	.	.	.	C	10.03	1.238159	0.22711	.	.	ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527	T;T;T	0.02812	4.15;4.15;4.15	3.43	2.56	0.30785	.	0.330401	0.23935	U	0.043113	T	0.00967	0.0032	L	0.33189	0.99	0.23425	N	0.997708	B;B	0.19073	0.001;0.033	B;B	0.26310	0.014;0.068	T	0.47394	-0.9121	10	0.33940	T	0.23	.	8.9215	0.35615	0.0:0.8839:0.0:0.1161	.	167;167	A2ADX3;Q5SR06	.;.	T	167	ENSP00000396330:A167T;ENSP00000410512:A167T;ENSP00000390431:A167T	ENSP00000390431:A167T	A	-	1	0	HLA-DQB2	32834752	0.000000	0.05858	0.869000	0.34112	0.359000	0.29487	0.045000	0.14013	0.784000	0.33661	-0.333000	0.08304	GCC		0.542	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2		
HMHA1	23526	mdanderson.org	37	19	1081617	1081617	+	Silent	SNP	A	A	G	rs10404947	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:1081617A>G	ENST00000313093.2	+	18	2490	c.2259A>G	c.(2257-2259)caA>caG	p.Q753Q	HMHA1_ENST00000590214.1_Silent_p.Q780Q|HMHA1_ENST00000543365.1_Silent_p.Q636Q|HMHA1_ENST00000536472.1_Silent_p.Q621Q|HMHA1_ENST00000539243.2_Silent_p.Q769Q|HMHA1_ENST00000586866.1_Silent_p.Q757Q|HMHA1_ENST00000590577.1_Silent_p.Q388Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	753					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTGCAAGGCCGCCTGC	0.667													g|||	3807	0.760184	0.8079	0.8718	5008	,	,		13576	0.6607		0.7783	False		,,,				2504	0.7004					.											0										3437,847		1403,631,108	6.0	7.0	7.0		2259	2.2	1.0	19	dbSNP_119	7	6717,1707		2727,1263,222	no	coding-synonymous	HMHA1	NM_012292.2		4130,1894,330	GG,GA,AA		20.2635,19.7712,20.0976		753/1137	1081617	10154,2554	2142	4212	6354	SO:0001819	synonymous_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2259A>G	19.37:g.1081617A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.667	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		
IQCH	64799	mdanderson.org;bcgsc.ca	37	15	67652191	67652191	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:67652191A>G	ENST00000335894.4	+	8	787	c.721A>G	c.(721-723)Agc>Ggc	p.S241G	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.S68G	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	241										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTAGGGGAAAAGCAGAAGGTC	0.433																																						.											0													251.0	231.0	238.0					15																	67652191		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.721A>G	15.37:g.67652191A>G	ENSP00000336861:p.Ser241Gly		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	A	8.174	0.792329	0.16258	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.44881	0.93;0.91	5.78	1.15	0.20763	.	0.874228	0.10119	N	0.713657	T	0.14098	0.0341	N	0.01800	-0.715	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21449	-1.0245	10	0.15499	T	0.54	-2.7848	3.3911	0.07289	0.3785:0.2017:0.4198:0.0	.	241;68	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	G	68;241	ENSP00000351617:S68G;ENSP00000336861:S241G	ENSP00000336861:S241G	S	+	1	0	IQCH	65439245	0.877000	0.30153	0.989000	0.46669	0.949000	0.60115	-0.378000	0.07446	0.330000	0.23485	-0.242000	0.12053	AGC		0.433	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
KRT38	8687	mdanderson.org	37	17	39595537	39595537	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39595537G>A	ENST00000246646.3	-	3	649	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	217	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCCAGGGTCGCATCATCCAG	0.637																																						.											0													83.0	75.0	78.0					17																	39595537		2203	4300	6503	SO:0001583	missense	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.650C>T	17.37:g.39595537G>A	ENSP00000246646:p.Ala217Val		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928753	0.34002	.	.	ENSG00000171360	ENST00000246646	D	0.90004	-2.6	4.31	3.11	0.35812	Filament (1);	1.672080	0.04241	N	0.336988	D	0.85961	0.5819	L	0.45051	1.395	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.71217	-0.4658	10	0.72032	D	0.01	.	7.6159	0.28158	0.8792:0.0:0.1208:0.0	.	217	O76015	KRT38_HUMAN	V	217	ENSP00000246646:A217V	ENSP00000246646:A217V	A	-	2	0	KRT38	36849063	0.044000	0.20184	0.710000	0.30468	0.780000	0.44128	3.320000	0.51991	0.590000	0.29694	0.484000	0.47621	GCG		0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KRT19	3880	mdanderson.org	37	17	39684321	39684321	+	Missense_Mutation	SNP	G	G	C	rs4602	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39684321G>C	ENST00000361566.3	-	1	239	c.179C>G	c.(178-180)gCc>gGc	p.A60G		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	60	Head.		A -> G (in dbSNP:rs4602). {ECO:0000269|PubMed:10623642, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:2447559, ECO:0000269|PubMed:2448790, ECO:0000269|PubMed:2469734}.		cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGCCGTAGGCCCCCGAGGA	0.726													C|||	3746	0.748003	0.6445	0.7896	5008	,	,		12585	0.9187		0.6471	False		,,,				2504	0.7863					.											0								C	GLY/ALA	2720,1596		894,932,332	17.0	23.0	21.0		179	4.4	1.0	17	dbSNP_52	21	5361,3111		1756,1849,631	no	missense	KRT19	NM_002276.4	60	2650,2781,963	CC,CG,GG		36.721,36.9787,36.8079		60/401	39684321	8081,4707	2158	4236	6394	SO:0001583	missense	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.179C>G	17.37:g.39684321G>C	ENSP00000355124:p.Ala60Gly		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	1594	0.7298534798534798	313	0.6361788617886179	269	0.7430939226519337	533	0.9318181818181818	479	0.6319261213720316	C	2.730	-0.264716	0.05754	0.630213	0.63279	ENSG00000171345	ENST00000361566;ENST00000455635	T;T	0.81330	-1.48;-1.07	4.39	4.39	0.52855	.	0.426572	0.19926	N	0.102967	T	0.00012	0.0000	N	0.00237	-1.79	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	9	0.13853	T	0.58	.	14.8587	0.70362	0.0:0.8554:0.1446:0.0	rs4602;rs3188663;rs16967073;rs17856215;rs58113253	60	P08727	K1C19_HUMAN	G	60	ENSP00000355124:A60G;ENSP00000408759:A60G	ENSP00000355124:A60G	A	-	2	0	KRT19	36937847	0.005000	0.15991	1.000000	0.80357	0.129000	0.20672	0.256000	0.18351	1.213000	0.43380	-0.216000	0.12614	GCC		0.726	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276	
MDH2	4191	mdanderson.org	37	7	75677504	75677504	+	Missense_Mutation	SNP	C	C	T	rs6720	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75677504C>T	ENST00000315758.5	+	1	120	c.26C>T	c.(25-27)gCc>gTc	p.A9V	STYXL1_ENST00000359697.3_5'Flank|MDH2_ENST00000443006.1_5'UTR|STYXL1_ENST00000431581.1_5'Flank|STYXL1_ENST00000340062.5_5'Flank|STYXL1_ENST00000248600.1_5'Flank|MDH2_ENST00000461263.2_Missense_Mutation_p.A9V|STYXL1_ENST00000460184.2_5'Flank|MDH2_ENST00000432020.2_Missense_Mutation_p.A9V|STYXL1_ENST00000360591.3_5'Flank|STYXL1_ENST00000451157.1_5'Flank|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	9			A -> V (in dbSNP:rs17849553). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GCCCGGCCTGCCAGCGCTGCT	0.741													c|||	2615	0.522165	0.7073	0.4164	5008	,	,		14327	0.6071		0.327	False		,,,				2504	0.4601					.											0								C	VAL/ALA	2410,1644		759,892,376	9.0	7.0	8.0		26	0.6	0.0	7	dbSNP_123	8	2255,5607		413,1429,2089	no	missense	MDH2	NM_005918.2	64	1172,2321,2465	TT,TC,CC		28.6823,40.5525,39.149	benign	9/339	75677504	4665,7251	2027	3931	5958	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.26C>T	7.37:g.75677504C>T	ENSP00000327070:p.Ala9Val		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	1104	0.5054945054945055	353	0.717479674796748	147	0.40607734806629836	356	0.6223776223776224	248	0.32717678100263853	C	15.67	2.903178	0.52333	0.594475	0.286823	ENSG00000146701	ENST00000315758;ENST00000432020	T;T	0.41758	0.99;0.99	5.57	0.558	0.17266	.	0.307415	0.35262	N	0.003322	T	0.00012	0.0000	L	0.33624	1.015	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34054	-0.9844	9	0.25751	T	0.34	-8.1463	9.0275	0.36239	0.0:0.6206:0.0:0.3794	rs6720	9;9	E9PDB2;P40926	.;MDHM_HUMAN	V	9	ENSP00000327070:A9V;ENSP00000408649:A9V	ENSP00000327070:A9V	A	+	2	0	MDH2	75515440	0.001000	0.12720	0.004000	0.12327	0.754000	0.42855	0.356000	0.20181	0.047000	0.15862	0.650000	0.86243	GCC		0.741	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1		
CLCN5	1184	mdanderson.org	37	X	49773090	49773090	+	Intron	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:49773090A>G	ENST00000376088.3	+	4	657				AF222686.1_ENST00000582167.1_RNA|MIR500B_ENST00000458843.1_RNA|MIR501_ENST00000390204.1_RNA|CLCN5_ENST00000482218.2_Intron|CLCN5_ENST00000376091.3_Intron|MIR362_ENST00000385280.1_RNA|MIR500A_ENST00000385051.1_RNA	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTGAATGCAATGCACCTGGG	0.488													A|||	1	0.000264901	0.0	0.0014	3775	,	,		15520	0.0		0.0	False		,,,				2504	0.0					.											0													165.0	133.0	143.0					X																	49773090		1568	3582	5150	SO:0001627	intron_variant	574502			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.17-33835A>G	X.37:g.49773090A>G			A1L475|B3KPN6|Q5JQD5|Q7RTN8	RNA	SNP	ENST00000376088.3	37	CCDS48115.1																																																																																				0.488	CLCN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056542.2		
ANKRD30BL	554226	mdanderson.org	37	2	133014602	133014602	+	Intron	SNP	G	G	C	rs75245503	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:133014602G>C	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GCCACAGACAGGAGGGAGGTA	0.721																																						.											0													27.0	45.0	39.0					2																	133014602		1553	3578	5131	SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+499C>G	2.37:g.133014602G>C			B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																					0.721	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
MUC4	4585	mdanderson.org	37	3	195506603	195506603	+	Missense_Mutation	SNP	T	T	C	rs201602653		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195506603T>C	ENST00000463781.3	-	2	12307	c.11848A>G	c.(11848-11850)Acc>Gcc	p.T3950A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3950A	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)	p.T3950A(2)		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)		AGAGGGGTGGTGTCACCTGTG	0.592																																						.											2	Substitution - Missense(2)	endometrium(1)|kidney(1)											14.0	12.0	13.0					3																	195506603		630	1408	2038	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.11848A>G	3.37:g.195506603T>C	ENSP00000417498:p.Thr3950Ala		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	1.026	-0.683487	0.03353	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.8	.	.	.	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	0.999999	P	0.44006	0.824	B	0.37047	0.24	T	0.11817	-1.0572	7	.	.	.	.	2.8304	0.05498	3.0E-4:2.0E-4:0.4983:0.5012	.	3822	E7ESK3	.	A	3950	ENSP00000417498:T3950A;ENSP00000420243:T3950A	.	T	-	1	0	MUC4	196991382	0.070000	0.21116	0.015000	0.15790	0.013000	0.08279	1.182000	0.32029	0.056000	0.16144	0.055000	0.15244	ACC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506627	195506627	+	Missense_Mutation	SNP	T	T	G	rs145875920	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195506627T>G	ENST00000463781.3	-	2	12283	c.11824A>C	c.(11824-11826)Act>Cct	p.T3942P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3942P	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)	p.T3942P(2)		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)		GCTGAGGAAGTGCTGGTGACA	0.582													.|||	144	0.028754	0.0658	0.0115	5008	,	,		10596	0.0179		0.0189	False		,,,				2504	0.0123					.											2	Substitution - Missense(2)	kidney(2)											16.0	15.0	15.0					3																	195506627		575	1239	1814	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.11824A>C	3.37:g.195506627T>G	ENSP00000417498:p.Thr3942Pro		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	418	0.19139194139194138	95	0.19308943089430894	73	0.20165745856353592	134	0.23426573426573427	116	0.15303430079155672	N	5.184	0.219525	0.09863	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.33;1.42	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.19945	N	0.999946	B	0.25521	0.128	B	0.28638	0.092	T	0.36456	-0.9747	7	.	.	.	.	2.6735	0.05075	0.0:0.409:0.0:0.591	.	3814	E7ESK3	.	P	3942	ENSP00000417498:T3942P;ENSP00000420243:T3942P	.	T	-	1	0	MUC4	196991406	0.000000	0.05858	0.044000	0.18714	0.027000	0.11550	-2.555000	0.00925	0.348000	0.23949	0.055000	0.15244	ACT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506963	195506963	+	Missense_Mutation	SNP	C	C	T	rs199588013	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195506963C>T	ENST00000463781.3	-	2	11947	c.11488G>A	c.(11488-11490)Gct>Act	p.A3830T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3830T	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)		GCTGAGGAAGCGTCGGTGACA	0.582													.|||	357	0.0712859	0.1407	0.0432	5008	,	,		9086	0.0258		0.0855	False		,,,				2504	0.0297					.											0													6.0	6.0	6.0					3																	195506963		385	1203	1588	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.11488G>A	3.37:g.195506963C>T	ENSP00000417498:p.Ala3830Thr		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	.	.	.	.	.	.	.	.	.	.	N	7.539	0.660259	0.14645	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.45;1.42	.	.	.	.	.	.	.	.	T	0.11965	0.0291	N	0.14661	0.345	0.19575	N	0.999967	B	0.28350	0.208	B	0.17098	0.017	T	0.18023	-1.0350	7	.	.	.	.	4.6062	0.12378	0.0:0.6657:0.0:0.3343	.	3702	E7ESK3	.	T	3830	ENSP00000417498:A3830T;ENSP00000420243:A3830T	.	A	-	1	0	MUC4	196991742	0.006000	0.16342	0.018000	0.16275	0.018000	0.09664	-0.467000	0.06664	-2.037000	0.00920	-2.088000	0.00374	GCT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195509045	195509045	+	Missense_Mutation	SNP	C	C	G	rs75309583|rs71634715		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195509045C>G	ENST00000463781.3	-	2	9865	c.9406G>C	c.(9406-9408)Gct>Cct	p.A3136P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3136P	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)		ACAGGAAGAGCGGTGGCCTGA	0.597																																						.											0													24.0	12.0	15.0					3																	195509045		661	1547	2208	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.9406G>C	3.37:g.195509045C>G	ENSP00000417498:p.Ala3136Pro		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	.	.	.	.	.	.	.	.	.	.	N	0.570	-0.841594	0.02671	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36878	1.32;1.23	.	.	.	.	.	.	.	.	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25641	-1.0126	7	.	.	.	.	1.435	0.02342	0.3378:0.329:0.0:0.3332	.	3008	E7ESK3	.	P	3136	ENSP00000417498:A3136P;ENSP00000420243:A3136P	.	A	-	1	0	MUC4	196993824	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.288000	0.00525	-0.000000	0.14550	0.000000	0.15137	GCT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195509218	195509218	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195509218G>T	ENST00000463781.3	-	2	9692	c.9233C>A	c.(9232-9234)aCt>aAt	p.T3078N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3078N	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)		TGCTGAGGAAGTGTCGGTGAC	0.597																																						.											0													11.0	9.0	10.0					3																	195509218		656	1529	2185	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.9233C>A	3.37:g.195509218G>T	ENSP00000417498:p.Thr3078Asn		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	.	.	.	.	.	.	.	.	.	.	g	5.963	0.361651	0.11296	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.43;1.41	.	.	.	.	.	.	.	.	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.18713	-1.0328	7	.	.	.	.	3.5074	0.07696	0.3564:0.0:0.6436:0.0	.	2950	E7ESK3	.	N	3078	ENSP00000417498:T3078N;ENSP00000420243:T3078N	.	T	-	2	0	MUC4	196993997	0.004000	0.15560	0.002000	0.10522	0.000000	0.00434	0.283000	0.18846	-0.414000	0.07495	0.000000	0.15137	ACT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195510709	195510709	+	Missense_Mutation	SNP	C	C	T	rs74504395|rs71291868	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:195510709C>T	ENST00000463781.3	-	2	8201	c.7742G>A	c.(7741-7743)aGc>aAc	p.S2581N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2581N	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)		TGAGGAAGTGCTGGTGACAGG	0.597																																						.											0													28.0	24.0	25.0					3																	195510709		681	1580	2261	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.7742G>A	3.37:g.195510709C>T	ENSP00000417498:p.Ser2581Asn		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	.	.	.	.	.	.	.	.	.	.	-	6.630	0.484644	0.12641	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.51;1.56	1.19	1.19	0.21007	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.09310	N	0.999996	B	0.17667	0.023	B	0.11329	0.006	T	0.26087	-1.0113	8	.	.	.	.	3.6753	0.08290	0.0:0.7317:0.0:0.2683	.	2581	E7ESK3	.	N	2581	ENSP00000417498:S2581N;ENSP00000420243:S2581N	.	S	-	2	0	MUC4	196995104	0.000000	0.05858	0.101000	0.21167	0.120000	0.20174	-1.608000	0.02068	0.661000	0.30985	0.264000	0.19307	AGC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MYBPC1	4604	mdanderson.org;bcgsc.ca	37	12	102043096	102043096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:102043096G>T	ENST00000550270.1	+	13	1180	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E295*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E375*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.E407*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E382*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E419*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E380*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E381*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E368*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E394*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E419*|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	394	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AATTAGAGTTGAGGGTAAAAA	0.353																																						.											0													126.0	119.0	122.0					12																	102043096		2203	4300	6503	SO:0001587	stop_gained	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1180G>T	12.37:g.102043096G>T	ENSP00000449702:p.Glu394*		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108518	0.94292	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.98	5.98	0.97165	.	0.248852	0.27811	N	0.017753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	368;394;394;394;381;380;419;407;394;419;394;375;382;419;295;394	.	ENSP00000353822:E394X	E	+	1	0	MYBPC1	100567227	1.000000	0.71417	0.984000	0.44739	0.079000	0.17450	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	GAG		0.353	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
NUP50	10762	mdanderson.org	37	22	45574145	45574145	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:45574145A>G	ENST00000347635.4	+	5	833	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	NUP50_ENST00000396096.2_Missense_Mutation_p.T95A|NUP50_ENST00000407019.2_Missense_Mutation_p.T95A|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000486184.1_3'UTR|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	123	5 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|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)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T123A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGCCCTACCACCTTGGTTGA	0.403																																						.											1	Substitution - Missense(1)	skin(1)											70.0	69.0	69.0					22																	45574145		2203	4300	6503	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.367A>G	22.37:g.45574145A>G	ENSP00000345895:p.Thr123Ala		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	0.204	-1.042164	0.01997	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000396096	.	.	.	5.46	-6.61	0.01818	Nuclear pore complex, NUP2/50/61 (1);	1.214170	0.05550	N	0.567335	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.09338	T	0.73	-0.2565	3.9641	0.09423	0.2425:0.1011:0.4317:0.2247	.	123	Q9UKX7	NUP50_HUMAN	A	123;95;95	.	ENSP00000345895:T123A	T	+	1	0	NUP50	43952809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.532000	0.06164	-1.798000	0.01250	-5.607000	0.00000	ACC		0.403	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2		
OPLAH	26873	mdanderson.org	37	8	145113241	145113241	+	Missense_Mutation	SNP	T	T	G	rs3935209	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145113241T>G	ENST00000426825.1	-	7	931	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	284			S -> R (in dbSNP:rs3935209).		glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACAGCACTGGAGCCGCTG	0.687													G|||	1014	0.202476	0.5998	0.0893	5008	,	,		15381	0.003		0.0984	False		,,,				2504	0.0583					.											0								G	ARG/SER	1818,2076		465,888,594	6.0	9.0	8.0		850	2.9	1.0	8	dbSNP_108	8	604,7624		25,554,3535	yes	missense	OPLAH	NM_017570.3	110	490,1442,4129	GG,GT,TT		7.3408,46.6872,19.9802	benign	284/1289	145113241	2422,9700	1947	4114	6061	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.850A>C	8.37:g.145113241T>G	ENSP00000475943:p.Ser284Arg		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		421	0.19276556776556777	297	0.6036585365853658	37	0.10220994475138122	13	0.022727272727272728	74	0.09762532981530343	G	11.48	1.649903	0.29336	0.466872	0.073408	ENSG00000178814	ENST00000426825	.	.	.	3.95	2.94	0.34122	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	.	.	.	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44421	-0.9329	7	0.02654	T	1	.	11.4387	0.50083	0.0:0.0:0.6654:0.3346	rs3935209;rs3935209	284;284	A7E261;O14841	.;OPLA_HUMAN	R	284	.	ENSP00000412071:S284R	S	-	1	0	OPLAH	145185229	0.940000	0.31905	0.981000	0.43875	0.538000	0.34931	0.568000	0.23623	0.652000	0.30806	-0.352000	0.07741	AGT		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
PCDHB10	56126	mdanderson.org	37	5	140573719	140573719	+	Missense_Mutation	SNP	G	G	A	rs148484995	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573719G>A	ENST00000239446.4	+	1	1778	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGGGCGCCACAGA	0.692																																						.											0													64.0	82.0	76.0					5																	140573719		2203	4300	6503	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1594G>A	5.37:g.140573719G>A	ENSP00000239446:p.Gly532Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	121	0.0554029304029304	49	0.09959349593495935	14	0.03867403314917127	4	0.006993006993006993	54	0.0712401055408971	g	13.25	2.180349	0.38511	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.53	-1.46	0.08800	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00073	0.0002	N	0.04787	-0.16	0.09310	N	1	P	0.40578	0.722	P	0.50162	0.633	T	0.53781	-0.8390	9	0.34782	T	0.22	.	6.5285	0.22314	0.1851:0.6244:0.1905:0.0	.	532	Q9UN67	PCDBA_HUMAN	S	532	ENSP00000239446:G532S	ENSP00000239446:G532S	G	+	1	0	PCDHB10	140553903	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-1.808000	0.01732	-0.175000	0.10725	0.549000	0.68633	GGC		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB16	57717	mdanderson.org	37	5	140563708	140563708	+	Missense_Mutation	SNP	G	G	A	rs17844651	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563708G>A	ENST00000361016.2	+	1	2729	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs17844651). {ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334}.		calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCCCTGCGGGAGTTCGAG	0.697													A|||	1371	0.273762	0.3132	0.3329	5008	,	,		10877	0.1399		0.3688	False		,,,				2504	0.2188					.											0													44.0	45.0	45.0					5																	140563708		1753	3407	5160	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1574G>A	5.37:g.140563708G>A	ENSP00000354293:p.Arg525Gln		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	949	0.43452380952380953	218	0.44308943089430897	192	0.5303867403314917	183	0.31993006993006995	356	0.46965699208443273	N	0.030	-1.338963	0.01287	.	.	ENSG00000196963	ENST00000361016	T	0.01725	4.67	4.26	-5.79	0.02354	Cadherin (5);Cadherin-like (1);	1.323070	0.06171	N	0.677600	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.45804	-0.9236	9	0.02654	T	1	.	16.9299	0.86188	0.33:0.0:0.67:0.0	rs61743500	525	Q9NRJ7	PCDBG_HUMAN	Q	525	ENSP00000354293:R525Q	ENSP00000354293:R525Q	R	+	2	0	PCDHB16	140543892	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-2.446000	0.01010	-1.843000	0.01179	-1.249000	0.01516	CGG		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	mdanderson.org	37	5	140563711	140563712	+	Missense_Mutation	DNP	AG	AG	CT	rs17844652|rs17844653	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563711_140563712AG>CT	ENST00000361016.2	+	1	2732_2733	c.1577_1578AG>CT	c.(1576-1578)gAG>gCT	p.E526A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			E -> A (in Ref. 1; AAF81914/AAG10030 and 7; AAH36062). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCGGGAGTTCGAGTTCC	0.693																																						.											0																																										SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	Exception_encountered	5.37:g.140563711_140563712delinsCT	ENSP00000354293:p.Glu526Ala		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	DNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.693	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	mdanderson.org	37	5	140563754	140563754	+	Silent	SNP	T	T	G	rs17844656	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140563754T>G	ENST00000361016.2	+	1	2775	c.1620T>G	c.(1618-1620)gcT>gcG	p.A540A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCTTTGAGCAGCG	0.687													T|||	1362	0.271965	0.3366	0.3098	5008	,	,		11233	0.1419		0.3499	False		,,,				2504	0.2117					.											0								T		456,3166		100,256,1455	21.0	24.0	23.0		1620	2.2	0.8	5	dbSNP_123	23	664,5934		147,370,2782	no	coding-synonymous	PCDHB16	NM_020957.1		247,626,4237	GG,GT,TT		10.0637,12.5897,10.9589		540/777	140563754	1120,9100	1811	3299	5110	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1620T>G	5.37:g.140563754T>G			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	mdanderson.org	37	5	140573754	140573754	+	Missense_Mutation	SNP	A	A	C	rs702386		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:140573754A>C	ENST00000239446.4	+	1	1813	c.1629A>C	c.(1627-1629)agA>agC	p.R543S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> S (in Ref. 2; AAK51616). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGAGAGGCGCTGG	0.701																																						.											0													37.0	53.0	47.0					5																	140573754		2191	4291	6482	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1629A>C	5.37:g.140573754A>C	ENSP00000239446:p.Arg543Ser		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	1085	0.4967948717948718	272	0.5528455284552846	171	0.4723756906077348	330	0.5769230769230769	312	0.41160949868073876	a	3.278	-0.147626	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.00005	-3.295	0.50467	P	1.2299999999998423E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	8	0.02654	T	1	.	7.2252	0.26012	0.1715:0.7353:0.0:0.0932	rs702386;rs17844583	543	Q9UN67	PCDBA_HUMAN	S	543	ENSP00000239446:R543S	ENSP00000239446:R543S	R	+	3	2	PCDHB10	140553938	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.307000	0.19296	0.852000	0.35287	-0.233000	0.12211	AGA		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PDIA4	9601	mdanderson.org	37	7	148725417	148725417	+	Missense_Mutation	SNP	G	G	T	rs368592590	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:148725417G>T	ENST00000286091.4	-	1	316	c.84C>A	c.(82-84)gaC>gaA	p.D28E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	28	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCTCACCCTCGTCCGGGCCCT	0.766													G|||	3	0.000599042	0.0	0.0	5008	,	,		9672	0.0		0.003	False		,,,				2504	0.0					.											0								G	GLU/ASP	2,3246		0,2,1622	4.0	6.0	6.0		84	4.7	0.9	7		6	6,5918		0,6,2956	no	missense	PDIA4	NM_004911.4	45	0,8,4578	TT,TG,GG		0.1013,0.0616,0.0872	benign	28/646	148725417	8,9164	1624	2962	4586	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.84C>A	7.37:g.148725417G>T	ENSP00000286091:p.Asp28Glu		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	5.261	0.233586	0.09969	6.16E-4	0.001013	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.45668	2.28;0.89	5.58	4.69	0.59074	Thioredoxin-like fold (1);	1.385570	0.04197	N	0.329265	T	0.25195	0.0612	N	0.08118	0	0.24603	N	0.993766	B	0.20887	0.049	B	0.17979	0.02	T	0.12066	-1.0562	10	0.02654	T	1	.	11.8705	0.52517	0.0822:0.0:0.9178:0.0	.	28	P13667	PDIA4_HUMAN	E	28	ENSP00000286091:D28E;ENSP00000408628:D28E	ENSP00000286091:D28E	D	-	3	2	PDIA4	148356350	0.691000	0.27709	0.932000	0.37286	0.283000	0.27025	1.045000	0.30341	1.344000	0.45657	0.655000	0.94253	GAC		0.766	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
PNPLA6	10908	mdanderson.org	37	19	7615903	7615903	+	Silent	SNP	G	G	A	rs8107538	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:7615903G>A	ENST00000221249.6	+	20	2408	c.1977G>A	c.(1975-1977)ccG>ccA	p.P659P	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.P633P|PNPLA6_ENST00000450331.3_Silent_p.P659P|PNPLA6_ENST00000414982.3_Silent_p.P707P|PNPLA6_ENST00000600737.1_Silent_p.P698P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	698					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCCGGCAGCCGCGAGCCACGA	0.687													G|||	1012	0.202077	0.3419	0.1758	5008	,	,		9640	0.0129		0.2386	False		,,,				2504	0.1892					.											0								G	,,,,	1025,2749		156,713,1018	4.0	4.0	4.0		2121,1899,1977,2094,1977	-9.8	0.6	19	dbSNP_116	4	1552,5774		175,1202,2286	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	331,1915,3304	AA,AG,GG		21.1848,27.1595,23.2162	,,,,	707/1376,633/1301,659/1328,698/1366,659/1328	7615903	2577,8523	1887	3663	5550	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1977G>A	19.37:g.7615903G>A			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
PRSS3	5646	mdanderson.org	37	9	33796660	33796660	+	Silent	SNP	T	T	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:33796660T>C	ENST00000361005.5	+	2	231	c.231T>C	c.(229-231)gaT>gaC	p.D77D	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.D13D|PRSS3_ENST00000379405.3_Silent_p.D20D|PRSS3_ENST00000342836.4_Silent_p.D34D	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	77					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTTTGACGATGATGACAAGA	0.552																																						.											0													193.0	181.0	185.0					9																	33796660		2203	4300	6503	SO:0001819	synonymous_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.231T>C	9.37:g.33796660T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
RADIL	55698	mdanderson.org	37	7	4841470	4841470	+	Missense_Mutation	SNP	T	T	C	rs414035	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:4841470T>C	ENST00000399583.3	-	12	2843	c.2656A>G	c.(2656-2658)Agc>Ggc	p.S886G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S646G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	886	Pro-rich.		S -> G (in dbSNP:rs414035). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.6}.		multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCCCCACGGCTGGGTTGCCTT	0.726													C|||	4990	0.996406	1.0	0.9885	5008	,	,		12822	1.0		0.9901	False		,,,				2504	1.0					.											0								C	GLY/SER	3271,3		1634,3,0	5.0	7.0	6.0		2656	0.2	0.0	7	dbSNP_80	6	7442,54		3694,54,0	no	missense	RADIL	NM_018059.4	56	5328,57,0	CC,CT,TT		0.7204,0.0916,0.5292	benign	886/1076	4841470	10713,57	1637	3748	5385	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2656A>G	7.37:g.4841470T>C	ENSP00000382492:p.Ser886Gly		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	2176|2176	0.9963369963369964|0.9963369963369964	492|492	1.0|1.0	358|358	0.988950276243094|0.988950276243094	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	C|C	0.006|0.006	-2.029879|-2.029879	0.00410|0.00410	0.999084|0.999084	0.992796|0.992796	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000316919;ENST00000538469	.|T;T	.|0.06687	.|3.34;3.27	4.94|4.94	0.203|0.203	0.15195|0.15195	.|.	.|1.064910	.|0.07231	.|N	.|0.862627	.|T	.|0.00012	.|0.0000	N|N	0.00210|0.00210	-1.845|-1.845	0.49687|0.49687	P|P	1.8300000000004424E-4|1.8300000000004424E-4	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	.|T	.|0.38394	.|-0.9663	.|9	.|0.12766	.|T	.|0.61	.|-6.6034	12.4289|12.4289	0.55563|0.55563	0.0:0.6455:0.0:0.3545|0.0:0.6455:0.0:0.3545	rs414035;rs10370995;rs57619776|rs414035;rs10370995;rs57619776	.|886;194	.|Q96JH8;Q75LH2	.|RADIL_HUMAN;.	.|G	-1|886;857;646	.|ENSP00000382492:S886G;ENSP00000442966:S646G	.|ENSP00000320946:S857G	.|S	-|-	.|1	.|0	RADIL|RADIL	4807996|4807996	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.568000|-0.568000	0.05909|0.05909	-1.265000|-1.265000	0.02449|0.02449	-3.198000|-3.198000	0.00054|0.00054	.|AGC		0.726	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
RBMXL1	494115	mdanderson.org	37	1	89448717	89448717	+	Missense_Mutation	SNP	C	C	T	rs202218737		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:89448717C>T	ENST00000321792.5	-	2	1220	c.793G>A	c.(793-795)Gga>Aga	p.G265R	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G265R|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	265					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CGACCATATCCATCTCTATCG	0.438																																						.											0													215.0	194.0	201.0					1																	89448717		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.793G>A	1.37:g.89448717C>T	ENSP00000318415:p.Gly265Arg			Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580250	0.28180	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77877	-1.13;-1.13	1.59	1.59	0.23543	.	0.058258	0.64402	D	0.000002	T	0.60117	0.2244	M	0.71206	2.165	0.23882	N	0.996573	P	0.45474	0.859	B	0.39840	0.311	T	0.56559	-0.7959	10	0.87932	D	0	.	8.7708	0.34731	0.0:1.0:0.0:0.0	.	265	Q96E39	RBMXL_HUMAN	R	265	ENSP00000318415:G265R;ENSP00000446099:G265R	ENSP00000318415:G265R	G	-	1	0	RBMXL1	89221305	0.999000	0.42202	0.949000	0.38748	0.935000	0.57460	1.632000	0.37102	0.884000	0.36064	0.306000	0.20318	GGA		0.438	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
SEMG2	6407	mdanderson.org;bcgsc.ca	37	20	43851703	43851703	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:43851703G>A	ENST00000372769.3	+	2	1520	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	477	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAAGAAAGACGACTCAACTAT	0.393																																						.											0													81.0	80.0	81.0					20																	43851703		2203	4300	6503	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1430G>A	20.37:g.43851703G>A	ENSP00000361855:p.Arg477Gln		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	3.240	-0.155535	0.06544	.	.	ENSG00000124157	ENST00000372769	T	0.06608	3.28	1.38	-2.53	0.06326	.	.	.	.	.	T	0.03871	0.0109	L	0.31578	0.945	0.09310	N	1	B;B	0.19331	0.035;0.012	B;B	0.13407	0.009;0.009	T	0.44421	-0.9329	9	0.25106	T	0.35	.	3.6481	0.08192	0.4393:0.3019:0.2588:0.0	.	477;477	A8K6Z6;Q02383	.;SEMG2_HUMAN	Q	477	ENSP00000361855:R477Q	ENSP00000361855:R477Q	R	+	2	0	SEMG2	43285117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.482000	0.02320	-0.770000	0.04614	-1.960000	0.00479	CGA		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
TEKT4	150483	mdanderson.org	37	2	95537622	95537622	+	Missense_Mutation	SNP	A	A	G	rs11164112	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:95537622A>G	ENST00000295201.4	+	1	435	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.S100G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	100			S -> G (in dbSNP:rs11164112).		cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACACGCACAGCTGGAAGTC	0.687													.|||	2141	0.427516	0.5166	0.4467	5008	,	,		17318	0.4881		0.3419	False		,,,				2504	0.319					.											0								G	GLY/SER	2150,2232		542,1066,583	15.0	14.0	15.0		298	-0.6	0.3	2	dbSNP_120	15	3138,5444		576,1986,1729	no	missense	TEKT4	NM_144705.2	56	1118,3052,2312	GG,GA,AA		36.5649,49.0644,40.7899	benign	100/436	95537622	5288,7676	2191	4291	6482	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.298A>G	2.37:g.95537622A>G	ENSP00000295201:p.Ser100Gly			Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	891	0.40796703296703296	246	0.5	139	0.3839779005524862	261	0.4562937062937063	245	0.3232189973614776	.	0.056	-1.235674	0.01505	0.490644	0.365649	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02579	4.24;4.24	1.97	-0.615	0.11587	.	0.633849	0.15549	N	0.256532	T	0.00012	0.0000	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	9	0.27082	T	0.32	-5.0599	3.6684	0.08265	0.1555:0.0:0.2897:0.5547	rs11164112	100	Q8WW24	TEKT4_HUMAN	G	100	ENSP00000295201:S100G;ENSP00000407596:S100G	ENSP00000295201:S100G	S	+	1	0	TEKT4	94901349	0.608000	0.26966	0.328000	0.25416	0.040000	0.13550	0.388000	0.20735	-0.228000	0.09869	-1.144000	0.01866	AGC		0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
TNRC18	84629	mdanderson.org	37	7	5353337	5353337	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:5353337C>A	ENST00000430969.1	-	27	7533	c.7185G>T	c.(7183-7185)caG>caT	p.Q2395H	TNRC18_ENST00000399537.4_Missense_Mutation_p.Q2395H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2395	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGACTGGGCTGCGGCGGTG	0.701																																						.											0													10.0	13.0	12.0					7																	5353337		1560	3566	5126	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7185G>T	7.37:g.5353337C>A	ENSP00000395538:p.Gln2395His		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.046|7.046	0.563541|0.563541	0.13498|0.13498	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|T;T	.|0.12879	.|2.65;2.64	4.73|4.73	1.92|1.92	0.25849|0.25849	.|.	.|0.000000	.|0.33023	.|N	.|0.005364	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.47716|0.47716	1.5|1.5	0.27352|0.27352	N|N	0.956201|0.956201	.|B	.|0.26120	.|0.142	.|B	.|0.19391	.|0.025	T|T	0.20107|0.20107	-1.0285|-1.0285	5|10	.|0.32370	.|T	.|0.25	.|.	8.3507|8.3507	0.32301|0.32301	0.0:0.7501:0.0:0.2499|0.0:0.7501:0.0:0.2499	.|.	.|2395	.|O15417	.|TNC18_HUMAN	S|H	209|2395	.|ENSP00000382452:Q2395H;ENSP00000395538:Q2395H	.|ENSP00000382452:Q2395H	A|Q	-|-	1|3	0|2	TNRC18|TNRC18	5319863|5319863	0.999000|0.999000	0.42202|0.42202	0.767000|0.767000	0.31495|0.31495	0.003000|0.003000	0.03518|0.03518	0.746000|0.746000	0.26275|0.26275	0.093000|0.093000	0.17368|0.17368	-0.258000|-0.258000	0.10820|0.10820	GCC|CAG		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TUBB8	347688	mdanderson.org	37	10	94005	94005	+	Silent	SNP	G	G	A	rs374716232		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94005G>A	ENST00000309812.4	-	4	389	c.327C>T	c.(325-327)ggC>ggT	p.G109G	TUBB8_ENST00000447903.2_Silent_p.G37G|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.A73V	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	109					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCAGCTCCGCGCCTTCGGTGT	0.602																																					Pancreas(192;2041 3010 9013 18103)	.											0													72.0	61.0	65.0					10																	94005		2203	4300	6503	SO:0001819	synonymous_variant	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.327C>T	10.37:g.94005G>A			Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	6.147	0.395295	0.11638	.	.	ENSG00000173876	ENST00000309812;ENST00000332708	.	.	.	.	.	.	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54754	-0.8246	4	0.87932	D	0	.	2.8768	0.05634	3.0E-4:2.0E-4:0.5045:0.4949	.	.	.	.	V	117;73	.	ENSP00000311042:A117V	A	-	2	0	RP11-631M21.2	84005	0.000000	0.05858	0.286000	0.24833	0.290000	0.27261	-5.243000	0.00138	0.119000	0.18210	0.121000	0.15741	GCG		0.602	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987	
TUBB8	347688	mdanderson.org	37	10	94018	94018	+	Missense_Mutation	SNP	T	T	C	rs9329307	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:94018T>C	ENST00000309812.4	-	4	376	c.314A>G	c.(313-315)cAc>cGc	p.H105R	TUBB8_ENST00000447903.2_Missense_Mutation_p.H33R|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.T69A	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	105					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.H105R(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTCGGTGTAGTGTCCCTTGGC	0.587																																					Pancreas(192;2041 3010 9013 18103)	.											1	Substitution - Missense(1)	prostate(1)											77.0	64.0	68.0					10																	94018		2203	4300	6503	SO:0001583	missense	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.314A>G	10.37:g.94018T>C	ENSP00000311042:p.His105Arg		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.13|11.13	1.548903|1.548903	0.27652|0.27652	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974|ENST00000309812;ENST00000332708	T|.	0.69435|.	-0.4|.	.|.	.|.	.|.	Tubulin/FtsZ, GTPase domain (4);|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.34522|0.34522	D|D	0.708225|0.708225	P;P|.	0.49635|.	0.65;0.926|.	P;P|.	0.47102|.	0.537;0.52|.	T|T	0.60439|0.60439	-0.7263|-0.7263	8|4	0.87932|0.87932	D|D	0|0	.|.	4.5487|4.5487	0.12098|0.12098	0.0:6.0E-4:0.0:0.9994|0.0:6.0E-4:0.0:0.9994	rs9329307|rs9329307	68;105|.	C9JAA5;Q3ZCM7|.	.;TBB8_HUMAN|.	R|A	33;71;68;105|113;69	ENSP00000403895:H33R|.	ENSP00000272035:H71R|ENSP00000311042:T113A	H|T	-|-	2|1	0|0	RP11-631M21.2|RP11-631M21.2	84018|84018	1.000000|1.000000	0.71417|0.71417	0.316000|0.316000	0.25252|0.25252	0.320000|0.320000	0.28249|0.28249	5.418000|5.418000	0.66429|0.66429	0.103000|0.103000	0.17682|0.17682	0.102000|0.102000	0.15555|0.15555	CAC|ACT		0.587	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987	
UBXN11	91544	mdanderson.org	37	1	26608852	26608852	+	Missense_Mutation	SNP	G	G	A	rs61775089		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:26608852G>A	ENST00000374222.1	-	16	1965	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	UBXN11_ENST00000357089.4_Missense_Mutation_p.P468S|UBXN11_ENST00000314675.7_Missense_Mutation_p.P381S|UBXN11_ENST00000374217.2_Missense_Mutation_p.P468S|UBXN11_ENST00000374223.1_Missense_Mutation_p.P258S|UBXN11_ENST00000374221.3_Missense_Mutation_p.P501S			Q5T124	UBX11_HUMAN	UBX domain protein 11	501	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|P -> S (in dbSNP:rs17838088).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ccgggactggggccgggaccg	0.731																																						.											1	Deletion - In frame(1)	ovary(1)											20.0	23.0	22.0					1																	26608852		1699	3915	5614	SO:0001583	missense	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1501C>T	1.37:g.26608852G>A	ENSP00000363339:p.Pro501Ser		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	600	0.27472527472527475	141	0.2865853658536585	101	0.27900552486187846	95	0.1660839160839161	263	0.3469656992084433	-	8.946	0.967087	0.18659	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.26957	1.8;1.7;2.08;2.12;2.12;2.08	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	4.000000000004E-6	.	.	.	.	.	.	T	0.44003	-0.9356	4	0.02654	T	1	.	.	.	.	rs61775089	468;463;381;501	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	381;258;468;501;501;468	ENSP00000324721:P381S;ENSP00000363340:P258S;ENSP00000349601:P468S;ENSP00000363338:P501S;ENSP00000363339:P501S;ENSP00000363334:P468S	ENSP00000324721:P381S	P	-	1	0	UBXN11	26481439	0.000000	0.05858	0.166000	0.22797	0.173000	0.22820	-0.536000	0.06135	0.000000	0.14550	0.000000	0.15137	CCC		0.731	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345	
VASN	114990	mdanderson.org	37	16	4431373	4431373	+	Silent	SNP	G	G	C	rs740374	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:4431373G>C	ENST00000304735.3	+	2	650	c.495G>C	c.(493-495)ccG>ccC	p.P165P	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	165				Missing (in Ref. 2; AAQ88665). {ECO:0000305}.	cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CACTGCCCCCGCTGCGCCTGC	0.697													G|||	66	0.0131789	0.0008	0.0202	5008	,	,		13608	0.0		0.0358	False		,,,				2504	0.0153					.											0								G	,,,,	25,4267		0,25,2121	12.0	9.0	10.0		,,,,495	-11.6	0.0	16	dbSNP_86	10	191,8271		1,189,4041	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	1,214,6162	CC,CG,GG		2.2571,0.5825,1.6936	,,,,	,,,,165/674	4431373	216,12538	2146	4231	6377	SO:0001819	synonymous_variant	114990			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.495G>C	16.37:g.4431373G>C			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																				0.697	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440	
YDJC	150223	mdanderson.org	37	22	21982892	21982892	+	Missense_Mutation	SNP	C	C	T	rs2298428	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:21982892C>T	ENST00000292778.6	-	5	836	c.787G>A	c.(787-789)Gct>Act	p.A263T	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	263			A -> T (in dbSNP:rs2298428).		carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGAGAAAGCGTCGGGGCCT	0.701													C|||	1126	0.22484	0.0227	0.3631	5008	,	,		11576	0.4117		0.1769	False		,,,				2504	0.2566					.											0								C	THR/ALA	218,4160		4,210,1975	13.0	14.0	13.0	http://www.ncbi.nlm.nih.gov/pubmed?term	787	4.3	0.7	22	dbSNP_100	13	1582,6978		142,1298,2840	yes	missense	YDJC	NM_001017964.1	58	146,1508,4815	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	18.4813,4.9794,13.9125	benign	263/324	21982892	1800,11138	2189	4280	6469	SO:0001583	missense	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.787G>A	22.37:g.21982892C>T	ENSP00000292778:p.Ala263Thr		Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	CCDS33613.1	495	0.22664835164835165	20	0.04065040650406504	115	0.31767955801104975	223	0.38986013986013984	137	0.18073878627968337	C	24.5	4.541910	0.85917	0.049794	0.184813	ENSG00000161179	ENST00000292778	T	0.42131	0.98	4.32	4.32	0.51571	Polysaccharide deacetylase (1);	0.104489	0.64402	D	0.000007	T	0.00012	0.0000	L	0.54323	1.7	0.09310	P	1.0	P	0.46784	0.884	B	0.39068	0.289	T	0.47368	-0.9123	9	0.13470	T	0.59	-16.7508	14.3921	0.66986	0.0:1.0:0.0:0.0	rs2298428;rs52827392;rs56745961;rs2298428	263	A8MPS7	YDJC_HUMAN	T	263	ENSP00000292778:A263T	ENSP00000292778:A263T	A	-	1	0	YDJC	20312892	1.000000	0.71417	0.677000	0.29947	0.942000	0.58702	7.032000	0.76498	2.245000	0.73994	0.650000	0.86243	GCT		0.701	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1		
ZNRF4	148066	mdanderson.org	37	19	5455971	5455971	+	Missense_Mutation	SNP	G	G	T	rs8103406	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455971G>T	ENST00000222033.4	+	1	546	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	157	PA.		A -> S (in dbSNP:rs8103406).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTCTCTGGGCGCCATCGTGCT	0.682													G|||	2713	0.541733	0.3585	0.4971	5008	,	,		15533	0.753		0.5278	False		,,,				2504	0.6176					.											0								G	SER/ALA	1582,2672		336,910,881	27.0	31.0	30.0		469	-2.2	0.0	19	dbSNP_116	30	4185,4267		1076,2033,1117	no	missense	ZNRF4	NM_181710.3	99	1412,2943,1998	TT,TG,GG		49.5149,37.1885,45.388	benign	157/430	5455971	5767,6939	2127	4226	6353	SO:0001583	missense	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.469G>T	19.37:g.5455971G>T	ENSP00000222033:p.Ala157Ser		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1225	0.5608974358974359	185	0.37601626016260165	200	0.5524861878453039	447	0.7814685314685315	393	0.5184696569920845	G	6.035	0.374881	0.11409	0.371885	0.495149	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.65	-2.19	0.07015	Protease-associated domain, PA (1);	0.532164	0.18743	U	0.132384	T	0.00012	0.0000	N	0.13327	0.33	0.80722	P	0.0	P	0.35527	0.507	B	0.40410	0.328	T	0.04140	-1.0974	9	0.20519	T	0.43	-12.463	8.1434	0.31097	0.0:0.1176:0.3591:0.5233	rs8103406;rs17205855;rs17845552;rs17858449;rs61351917;rs8103406	157	Q8WWF5	ZNRF4_HUMAN	S	157	ENSP00000222033:A157S	ENSP00000222033:A157S	A	+	1	0	ZNRF4	5406971	0.024000	0.19004	0.000000	0.03702	0.066000	0.16364	0.569000	0.23638	-0.062000	0.13088	0.491000	0.48974	GCC		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
ZNRF4	148066	mdanderson.org	37	19	5455978	5455978	+	Missense_Mutation	SNP	T	T	C	rs386806230|rs8107825	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:5455978T>C	ENST00000222033.4	+	1	553	c.476T>C	c.(475-477)gTg>gCg	p.V159A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	159	PA.		V -> A (in dbSNP:rs8107825).	AIV -> SIA (in Ref. 4; AAH17592). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCGCCATCGTGCTGATCCGC	0.677													C|||	2726	0.544329	0.3744	0.4957	5008	,	,		15728	0.752		0.5219	False		,,,				2504	0.6176					.											0								C	ALA/VAL	1603,2649		348,907,871	28.0	31.0	30.0		476	-3.1	0.0	19	dbSNP_116	30	4077,4391		1076,1925,1233	yes	missense	ZNRF4	NM_181710.3	64	1424,2832,2104	CC,CT,TT		48.146,37.6999,44.6541	benign	159/430	5455978	5680,7040	2126	4234	6360	SO:0001583	missense	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.476T>C	19.37:g.5455978T>C	ENSP00000222033:p.Val159Ala		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	1232	0.5641025641025641	191	0.3882113821138211	201	0.5552486187845304	447	0.7814685314685315	393	0.5184696569920845	C	0.375	-0.931828	0.02359	0.376999	0.48146	ENSG00000105428	ENST00000222033	T	0.10668	2.85	4.65	-3.08	0.05347	Protease-associated domain, PA (1);	0.244527	0.32503	N	0.006003	T	0.00012	0.0000	N	0.17248	0.465	0.80722	P	0.0	B	0.10296	0.003	B	0.14578	0.011	T	0.39035	-0.9633	9	0.02654	T	1	-7.3391	12.8579	0.57897	0.0:0.5818:0.0:0.4182	rs8107825;rs17856547;rs60068947;rs8107825	159	Q8WWF5	ZNRF4_HUMAN	A	159	ENSP00000222033:V159A	ENSP00000222033:V159A	V	+	2	0	ZNRF4	5406978	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.987000	0.03743	-0.981000	0.03520	-1.140000	0.01884	GTG		0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
ZNF676	163223	mdanderson.org	37	19	22363448	22363448	+	Silent	SNP	A	A	T	rs200452805		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:22363448A>T	ENST00000397121.2	-	3	1388	c.1071T>A	c.(1069-1071)atT>atA	p.I357I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGTATGAATAATCTTATGTT	0.383																																						.											0													68.0	74.0	72.0					19																	22363448		2162	4271	6433	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1071T>A	19.37:g.22363448A>T			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
SKI	6497	bcgsc.ca	37	1	2235304	2235304	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:2235304A>G	ENST00000378536.4	+	4	1309	c.1237A>G	c.(1237-1239)Aca>Gca	p.T413A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	413					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GAGCTTTGAGACAGCCGTGGC	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)	.											0													13.0	17.0	16.0					1																	2235304		2148	4218	6366	SO:0001583	missense	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1237A>G	1.37:g.2235304A>G	ENSP00000367797:p.Thr413Ala		Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366241	0.41902	.	.	ENSG00000157933	ENST00000378536	D	0.95588	-3.75	4.61	3.48	0.39840	.	0.353173	0.31041	N	0.008379	D	0.90515	0.7028	L	0.34521	1.04	0.21740	N	0.999561	B	0.06786	0.001	B	0.04013	0.001	T	0.80322	-0.1431	10	0.33141	T	0.24	-4.0181	9.436	0.38639	0.9147:0.0:0.0853:0.0	.	413	P12755	SKI_HUMAN	A	413	ENSP00000367797:T413A	ENSP00000367797:T413A	T	+	1	0	SKI	2225164	1.000000	0.71417	0.944000	0.38274	0.918000	0.54935	4.734000	0.62043	0.728000	0.32382	0.459000	0.35465	ACA		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036	
TP53	7157	bcgsc.ca	37	17	7579717	7579717	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579717delG	ENST00000269305.4	-	3	268	c.79delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P27fs*17(2)|p.P13fs*18(1)|p.L26fs*11(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)	TTGTTTTCAGGAAGTCTGAAA	0.622		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"""	12	Whole gene deletion(8)|Deletion - Frameshift(4)	bone(4)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42.0	42.0	42.0					17																	7579717		2203	4300	6503	SO:0001589	frameshift_variant	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.79delC	17.37:g.7579717delG	ENSP00000269305:p.Pro27fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
QRFPR	84109	bcgsc.ca	37	4	122250742	122250742	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:122250742T>A	ENST00000394427.2	-	6	1434	c.1023A>T	c.(1021-1023)aaA>aaT	p.K341N	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	341					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACAAAACATTTTTTTTGAAGT	0.333																																						.											0													67.0	67.0	67.0					4																	122250742		2202	4300	6502	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1023A>T	4.37:g.122250742T>A	ENSP00000377948:p.Lys341Asn			Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661452	0.67700	.	.	ENSG00000186867	ENST00000394427	T	0.38240	1.15	5.32	-3.01	0.05463	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	T	0.09707	-1.0662	10	0.54805	T	0.06	.	13.2562	0.60081	0.0:0.3128:0.0:0.6872	.	341	Q96P65	QRFPR_HUMAN	N	341	ENSP00000377948:K341N	ENSP00000377948:K341N	K	-	3	2	QRFPR	122470192	0.968000	0.33430	0.756000	0.31282	0.994000	0.84299	0.120000	0.15647	-0.820000	0.04318	0.402000	0.26972	AAA		0.333	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
PCOLCE	5118	bcgsc.ca	37	7	100204167	100204167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204167delG	ENST00000223061.5	+	6	1134	c.854delG	c.(853-855)ggcfs	p.G285fs	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	285					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAGGGCCCGGCCCCAAACGG	0.597																																						.											0													44.0	47.0	46.0					7																	100204167		2203	4300	6503	SO:0001589	frameshift_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.854delG	7.37:g.100204167delG	ENSP00000223061:p.Gly285fs		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	CCDS5700.1																																																																																				0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	
ZAN	7455	bcgsc.ca	37	7	100334192	100334192	+	RNA	SNP	C	C	T	rs200760090		TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100334192C>T	ENST00000348028.3	+	0	358				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R65*(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACTGGGTTCGAGCCAGTGG	0.622																																						.											1	Substitution - Nonsense(1)	large_intestine(1)						C	stop/ARG,stop/ARG	0,3648		0,0,1824	82.0	80.0	80.0		193,193	4.7	0.5	7		80	2,7762		0,2,3880	yes	stop-gained,stop-gained	ZAN	NM_003386.1,NM_173059.1	,	0,2,5704	TT,TC,CC		0.0258,0.0,0.0175	,	65/2813,65/2722	100334192	2,11410	1824	3882	5706			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334192C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869836	0.91587	0.0	2.58E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.7	4.7	0.59300	.	0.000000	0.29009	N	0.013438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8686	0.63603	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000423579:R65X	R	+	1	2	ZAN	100172128	0.062000	0.20869	0.490000	0.27465	0.318000	0.28184	2.025000	0.41059	2.551000	0.86045	0.561000	0.74099	CGA		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MT-ATP6	4508	bcgsc.ca	37	M	8723	8723	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrM:8723G>A	ENST00000361899.2	+	1	197	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	66					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CACTAAAGGACGAACCTGATC	0.403																																						.											0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.197G>A	M.37:g.8723G>A	ENSP00000354632:p.Arg66Gln		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37																																																																																					0.403	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031	
ATRX	546	bcgsc.ca	37	X	76937379	76937379	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937379delA	ENST00000373344.5	-	9	3583	c.3369delT	c.(3367-3369)aatfs	p.N1123fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1085fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1123					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATCAGAAGAGTTACAACCAT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											79.0	83.0	82.0					X																	76937379		2203	4292	6495	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3369delT	X.37:g.76937379delA	ENSP00000362441:p.Asn1123fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
