#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCC2	1244	genome.wustl.edu	37	10	101577118	101577118	+	Silent	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr10:101577118G>A	ENST00000370449.4	+	17	2261	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	716	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCACCATAAAGGACAACATCC	0.488																																																	0													92.0	79.0	83.0					10																	101577118		2203	4300	6503	SO:0001819	synonymous_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2148G>A	10.37:g.101577118G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.K716	ENST00000370449.4	37	c.2148	CCDS7484.1	10																																																																																			ABCC2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.488	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	G	NM_000392		101577118	+1	no_errors	ENST00000370449	ensembl	human	known	70_37	silent	SNP	1.000	A
AKT1	207	genome.wustl.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	102	Substitution - Missense(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)											130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.E17K	ENST00000554581.1	37	c.49	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	C	NM_005163		105246551	-1	no_errors	ENST00000349310	ensembl	human	known	70_37	missense	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27100152	27100152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:27100152delG	ENST00000324856.7	+	16	4319	c.3948delG	c.(3946-3948)tcgfs	p.S1316fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1316fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S933fs|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Deletion - Frameshift(1)	ovary(1)											55.0	63.0	61.0					1																	27100152		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3948delG	1.37:g.27100152delG	ENSP00000320485:p.Ser1316fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1318fs	ENST00000324856.7	37	c.3948	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27100152	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
LOC101927209	101927209	genome.wustl.edu	37	1	142715054	142715054	+	lincRNA	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:142715054G>A	ENST00000610091.1	-	0	604																											AACAAAGATTGATTTATCTGA	0.239																																																	0																																												100874392																															1.37:g.142715054G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			ANKRD20A12P	-	-		0.239	RP11-417J8.6-001	KNOWN	basic	lincRNA	ANKRD20A12P	HGNC	lincRNA	OTTHUMT00000037265.2	G			142715054	-1	no_errors	ENST00000595144	ensembl	human	known	70_37	rna	SNP	0.086	A
BAI3	577	genome.wustl.edu	37	6	70070851	70070851	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr6:70070851G>T	ENST00000370598.1	+	29	4507	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	BAI3_ENST00000238918.8_Missense_Mutation_p.G435V|BAI3_ENST00000546190.1_Missense_Mutation_p.G193V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1229					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAGAAAAGGGAACAAACCCT	0.428																																																	0													91.0	84.0	86.0					6																	70070851		2203	4299	6502	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3686G>T	6.37:g.70070851G>T	ENSP00000359630:p.Gly1229Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1229V	ENST00000370598.1	37	c.3686	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417436	0.04766	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.42131	2.12;2.74;0.98	5.61	4.7	0.59300	.	0.323970	0.33199	N	0.005178	T	0.12475	0.0303	N	0.14661	0.345	0.46542	D	0.99909	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.06698	-1.0812	10	0.18710	T	0.47	.	12.7717	0.57426	0.0:0.1757:0.7165:0.1078	.	435;1229	B7Z356;O60242	.;BAI3_HUMAN	V	1229;435;193	ENSP00000359630:G1229V;ENSP00000238918:G435V;ENSP00000441821:G193V	ENSP00000238918:G435V	G	+	2	0	BAI3	70127572	1.000000	0.71417	0.962000	0.40283	0.688000	0.40055	1.900000	0.39828	2.632000	0.89209	0.591000	0.81541	GGA	BAI3	-	NULL		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70070851	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	0.306	T
C1QL2	165257	genome.wustl.edu	37	2	119915184	119915184	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr2:119915184G>A	ENST00000272520.3	-	1	1281	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCAGAGGTCCGCCCACATGCT	0.642										HNSCC(49;0.14)																																							0													48.0	53.0	51.0					2																	119915184		2201	4300	6501	SO:0001583	missense	165257			AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.662C>T	2.37:g.119915184G>A	ENSP00000272520:p.Ala221Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.A221V	ENST00000272520.3	37	c.662	CCDS42737.1	2	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174980	0.38413	.	.	ENSG00000144119	ENST00000272520	T	0.72615	-0.67	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.48804	0.1520	N	0.04275	-0.24	0.80722	D	1	P	0.37176	0.586	B	0.35813	0.211	T	0.52019	-0.8631	9	.	.	.	.	16.7477	0.85477	0.0:0.0:1.0:0.0	.	221	Q7Z5L3	C1QL2_HUMAN	V	221	ENSP00000272520:A221V	.	A	-	2	0	C1QL2	119631654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.541000	0.85698	0.561000	0.74099	GCG	C1QL2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL2	HGNC	protein_coding	OTTHUMT00000330527.2	G	NM_182528		119915184	-1	no_errors	ENST00000272520	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2786273	2786273	+	Silent	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr12:2786273C>T	ENST00000347598.4	+	42	4986	c.4986C>T	c.(4984-4986)acC>acT	p.T1662T	CACNA1C_ENST00000399595.1_Silent_p.T1622T|CACNA1C_ENST00000399601.1_Silent_p.T1614T|CACNA1C_ENST00000399591.1_Silent_p.T1622T|CACNA1C_ENST00000399655.1_Silent_p.T1614T|CACNA1C_ENST00000344100.3_Silent_p.T1655T|CACNA1C_ENST00000399617.1_Silent_p.T1614T|CACNA1C_ENST00000399603.1_Silent_p.T1614T|CACNA1C_ENST00000406454.3_Silent_p.T1614T|CACNA1C_ENST00000399597.1_Silent_p.T1614T|CACNA1C_ENST00000399649.1_Silent_p.T1620T|CACNA1C_ENST00000399629.1_Silent_p.T1631T|CACNA1C_ENST00000399606.1_Silent_p.T1634T|CACNA1C_ENST00000399621.1_Silent_p.T1633T|CACNA1C_ENST00000399641.1_Silent_p.T1614T|CACNA1C_ENST00000399638.1_Silent_p.T1642T|CACNA1C_ENST00000399644.1_Silent_p.T1614T|CACNA1C_ENST00000399637.1_Silent_p.T1633T|CACNA1C_ENST00000335762.5_Silent_p.T1639T|CACNA1C_ENST00000327702.7_Silent_p.T1614T|CACNA1C_ENST00000399634.1_Silent_p.T1614T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Silent_p.T1633T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1662					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAGGTCACCGTTGGCAAGT	0.517																																																	0													36.0	37.0	37.0					12																	2786273		2051	4232	6283	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4986C>T	12.37:g.2786273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T1614	ENST00000347598.4	37	c.4842	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_VDCC_a1su_IQ		0.517	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2786273	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	0.623	T
CACNA1S	779	genome.wustl.edu	37	1	201031122	201031122	+	Silent	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:201031122G>A	ENST00000362061.3	-	24	3229	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	CACNA1S_ENST00000367338.3_Silent_p.L1001L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1001	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATGGCTGAGAGCACATTGT	0.582																																																	0													157.0	108.0	125.0					1																	201031122		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3003C>T	1.37:g.201031122G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L1001	ENST00000362061.3	37	c.3003	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201031122	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	silent	SNP	0.817	A
CACNB1	782	genome.wustl.edu	37	17	37343054	37343054	+	Silent	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr17:37343054G>A	ENST00000394303.3	-	5	750	c.543C>T	c.(541-543)ctC>ctT	p.L181L	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Silent_p.L181L|CACNB1_ENST00000394310.3_Silent_p.L181L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	181					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGGAGCCGAGGCGGTTCT	0.637																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													57.0	56.0	56.0					17																	37343054		2203	4300	6503	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.543C>T	17.37:g.37343054G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.L181	ENST00000394303.3	37	c.543	CCDS42311.1	17																																																																																			CACNB1	-	superfamily_SH3_domain,prints_VDCC_L_b1su		0.637	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	G			37343054	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC67	159989	genome.wustl.edu	37	11	93104221	93104221	+	Silent	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr11:93104221C>T	ENST00000298050.3	+	7	664	c.564C>T	c.(562-564)taC>taT	p.Y188Y		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	188					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323																																																	0													51.0	48.0	49.0					11																	93104221		1821	4079	5900	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.564C>T	11.37:g.93104221C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEF1|Q96LL7	Silent	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.Y188	ENST00000298050.3	37	c.564	CCDS44707.1	11																																																																																			CCDC67	-	NULL		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		C	NM_181645		93104221	+1	no_errors	ENST00000298050	ensembl	human	known	70_37	silent	SNP	1.000	T
CDHR4	389118	genome.wustl.edu	37	3	49831352	49831352	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr3:49831352G>A	ENST00000412678.2	-	11	1375	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	456	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GTGGGGCGCCGCATCCTCCTG	0.577																																																	0													77.0	71.0	73.0					3																	49831352		692	1591	2283	SO:0001583	missense	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1367C>T	3.37:g.49831352G>A	ENSP00000391409:p.Ala456Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A456V	ENST00000412678.2	37	c.1367	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646898	0.47258	.	.	ENSG00000187492	ENST00000412678	T	0.55588	0.51	5.37	4.49	0.54785	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.48874	0.1524	L	0.41492	1.28	0.80722	D	1	D	0.57257	0.979	P	0.48304	0.573	T	0.43147	-0.9409	9	0.35671	T	0.21	.	11.813	0.52194	0.0824:0.0:0.9176:0.0	.	456	A6H8M9	CDHR4_HUMAN	V	456	ENSP00000391409:A456V	ENSP00000391409:A456V	A	-	2	0	CDHR4	49806356	0.990000	0.36364	0.728000	0.30774	0.037000	0.13140	3.309000	0.51903	1.271000	0.44313	0.650000	0.86243	GCG	CDHR4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.577	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	G	NM_001007540		49831352	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	missense	SNP	0.963	A
CHD7	55636	genome.wustl.edu	37	8	61735064	61735064	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr8:61735064G>A	ENST00000423902.2	+	12	3439	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.R987Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	987	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTAAAGGCGAAACTGCATT	0.343																																																	0													63.0	63.0	63.0					8																	61735064		1835	4086	5921	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2960G>A	8.37:g.61735064G>A	ENSP00000392028:p.Arg987Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R987Q	ENST00000423902.2	37	c.2960	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022274	0.54683	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93488	-3.23;-3.23	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.88883	0.6558	N	0.20766	0.605	0.80722	D	1	B;B	0.27951	0.031;0.195	B;B	0.32342	0.008;0.144	D	0.84979	0.0887	10	0.21014	T	0.42	-9.2	19.3617	0.94442	0.0:0.0:1.0:0.0	.	987;987	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Q	987	ENSP00000392028:R987Q;ENSP00000436027:R987Q	ENSP00000307304:R987Q	R	+	2	0	CHD7	61897618	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.786000	0.75094	2.646000	0.89796	0.655000	0.94253	CGA	CHD7	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.343	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61735064	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A
CTNND1	1500	genome.wustl.edu	37	11	57576862	57576862	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr11:57576862G>A	ENST00000399050.4	+	15	2895	c.2359G>A	c.(2359-2361)Gct>Act	p.A787T	CTNND1_ENST00000428599.2_Missense_Mutation_p.A781T|CTNND1_ENST00000533667.1_Missense_Mutation_p.A458T|CTNND1_ENST00000526357.1_Missense_Mutation_p.A727T|CTNND1_ENST00000528232.1_Missense_Mutation_p.A686T|CTNND1_ENST00000532787.1_Missense_Mutation_p.A680T|CTNND1_ENST00000529526.1_Missense_Mutation_p.A727T|CTNND1_ENST00000532245.1_Missense_Mutation_p.A680T|CTNND1_ENST00000530748.1_Missense_Mutation_p.A733T|CTNND1_ENST00000361332.4_Missense_Mutation_p.A781T|CTNND1_ENST00000532844.1_Missense_Mutation_p.A733T|CTNND1_ENST00000532463.1_Missense_Mutation_p.A680T|CTNND1_ENST00000529986.1_Missense_Mutation_p.A680T|CTNND1_ENST00000399039.4_Missense_Mutation_p.A787T|CTNND1_ENST00000524630.1_Missense_Mutation_p.A781T|CTNND1_ENST00000529873.1_Missense_Mutation_p.A727T|CTNND1_ENST00000530094.1_Missense_Mutation_p.A680T|CTNND1_ENST00000426142.2_Missense_Mutation_p.A680T|CTNND1_ENST00000361391.6_Missense_Mutation_p.A781T|CTNND1_ENST00000528621.1_Missense_Mutation_p.A727T|CTNND1_ENST00000531014.1_Missense_Mutation_p.A458T|CTNND1_ENST00000526772.1_Missense_Mutation_p.A458T|CTNND1_ENST00000534579.1_Missense_Mutation_p.A727T|CTNND1_ENST00000532649.1_Missense_Mutation_p.A727T|CTNND1_ENST00000361796.4_Missense_Mutation_p.A781T|CTNND1_ENST00000529919.1_Missense_Mutation_p.A787T|CTNND1_ENST00000527467.1_Missense_Mutation_p.A464T|CTNND1_ENST00000415361.2_Missense_Mutation_p.A686T|CTNND1_ENST00000525902.1_Missense_Mutation_p.A464T|CTNND1_ENST00000360682.6_Missense_Mutation_p.A787T|CTNND1_ENST00000526938.1_Missense_Mutation_p.A787T|CTNND1_ENST00000358694.6_Missense_Mutation_p.A781T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	787					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CGAGGTTATCGCTGAGAACTT	0.438																																																	0													84.0	85.0	84.0					11																	57576862		1884	4100	5984	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2359G>A	11.37:g.57576862G>A	ENSP00000382004:p.Ala787Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A787T	ENST00000399050.4	37	c.2359	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264622	0.23136	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.178093	0.49916	D	0.000132	T	0.13970	0.0338	N	0.01576	-0.805	0.30899	N	0.729512	P;P;B;P;B;P;B;P;B	0.35433	0.501;0.501;0.368;0.501;0.049;0.501;0.06;0.501;0.368	B;B;B;B;B;B;B;B;B	0.28465	0.038;0.062;0.041;0.09;0.01;0.09;0.016;0.062;0.017	T	0.15292	-1.0442	10	0.02654	T	1	-2.0232	14.3004	0.66346	0.0:0.0:0.8513:0.1486	.	787;781;787;680;727;727;781;787;787	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	781;787;787;787;781;727;680;787;781;781;680;680;781;680;458;727;727;733;781;464;686;458;458;727;464;733;727;680;686;680;727;787	ENSP00000436543:A781T;ENSP00000434808:A787T;ENSP00000381996:A787T;ENSP00000353902:A787T;ENSP00000354907:A781T;ENSP00000436323:A727T;ENSP00000409930:A680T;ENSP00000382004:A787T;ENSP00000354785:A781T;ENSP00000354823:A781T;ENSP00000432075:A680T;ENSP00000437156:A680T;ENSP00000351527:A781T;ENSP00000434949:A680T;ENSP00000437051:A458T;ENSP00000435379:A727T;ENSP00000432243:A727T;ENSP00000436744:A733T;ENSP00000413586:A781T;ENSP00000434900:A464T;ENSP00000435266:A686T;ENSP00000432623:A458T;ENSP00000433158:A458T;ENSP00000435494:A727T;ENSP00000434672:A464T;ENSP00000433276:A733T;ENSP00000433334:A727T;ENSP00000437327:A680T;ENSP00000403518:A686T;ENSP00000434017:A680T;ENSP00000435789:A727T;ENSP00000432041:A787T	ENSP00000351527:A781T	A	+	1	0	CTNND1	57333438	0.914000	0.31030	1.000000	0.80357	0.939000	0.58152	3.601000	0.54059	2.692000	0.91855	0.655000	0.94253	GCT	CTNND1	-	superfamily_ARM-type_fold		0.438	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57576862	+1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	0.857	A
DUS3L	56931	genome.wustl.edu	37	19	5788165	5788165	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:5788165C>T	ENST00000309061.7	-	5	1061	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.R80Q	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTGCAGATCCGTCGGAAGGG	0.612																																																	0													47.0	48.0	48.0					19																	5788165		2203	4300	6503	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.965G>A	19.37:g.5788165C>T	ENSP00000311977:p.Arg322Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.R322Q	ENST00000309061.7	37	c.965	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292601	0.80914	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.28666	1.6;1.6	3.78	3.78	0.43462	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.54143	0.1840	M	0.74389	2.26	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.60722	-0.7207	10	0.87932	D	0	-17.1384	13.1859	0.59680	0.0:1.0:0.0:0.0	.	80;322	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Q	322;80	ENSP00000311977:R322Q;ENSP00000315558:R80Q	ENSP00000311977:R322Q	R	-	2	0	DUS3L	5739165	1.000000	0.71417	0.972000	0.41901	0.527000	0.34593	7.678000	0.84035	1.672000	0.50884	0.306000	0.20318	CGG	DUS3L	-	pfam_tRNA_hU_synthase		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5788165	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	0.993	T
DYSF	8291	genome.wustl.edu	37	2	71817400	71817400	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr2:71817400G>A	ENST00000258104.3	+	32	3779	c.3502G>A	c.(3502-3504)Gac>Aac	p.D1168N	DYSF_ENST00000394120.2_Missense_Mutation_p.D1169N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.D1200N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1186N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1199N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1169N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1155N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1185N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1185N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1186N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1168N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1168	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCTGCGATGGACAAGGACTC	0.557																																																	0													115.0	106.0	109.0					2																	71817400		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3502G>A	2.37:g.71817400G>A	ENSP00000258104:p.Asp1168Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.D1199N	ENST00000258104.3	37	c.3595	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.109142	0.94292	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	H	0.95917	3.74	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.996;0.999;1.0;0.999;0.986;0.999;0.999	D	0.95153	0.8274	10	0.66056	D	0.02	-36.4779	15.0971	0.72244	0.0:0.0:1.0:0.0	.	1200;1186;1169;1155;1186;1155;1185;1154;1199;1185;1168;1154;1169;1168	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1199;1185;1185;1168;1168;1200;1169;1155;1169;1186;1186	ENSP00000407046:D1199N;ENSP00000387137:D1185N;ENSP00000386547:D1185N;ENSP00000398305:D1168N;ENSP00000258104:D1168N;ENSP00000386683:D1200N;ENSP00000377678:D1169N;ENSP00000386285:D1155N;ENSP00000386512:D1169N;ENSP00000386881:D1186N;ENSP00000386617:D1186N	ENSP00000258104:D1168N	D	+	1	0	DYSF	71670908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.295000	0.96095	2.636000	0.89361	0.591000	0.81541	GAC	DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71817400	+1	no_errors	ENST00000413539	ensembl	human	known	70_37	missense	SNP	1.000	A
POM121L7	728418	genome.wustl.edu	37	22	21477351	21477351	+	Intron	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr22:21477351C>T	ENST00000419447.1	-	2	1516				BCRP2_ENST00000461808.1_RNA|KB-1592A4.15_ENST00000420508.1_lincRNA					POM121 transmembrane nucleoporin-like 7																		AAAGGCTGCCCGTGGCCAATG	0.632																																																	0																																										SO:0001627	intron_variant	0					22q11.21	2013-03-28	2012-03-13		ENSG00000239511	ENSG00000239511			35444	other	unknown			"""POM121 membrane glycoprotein-like 7"""				Standard	NG_009026		Approved		uc010gsw.2		OTTHUMG00000150783	ENST00000419447.1:c.1387-129G>A	22.37:g.21477351C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000419447.1	37	NULL		22																																																																																			KB-1592A4.15	-	-		0.632	POM121L7-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000197210	Clone_based_vega_gene	protein_coding		C	NG_009026		21477351	-1	no_errors	ENST00000420508	ensembl	human	known	70_37	rna	SNP	0.003	T
ISLR2	57611	genome.wustl.edu	37	15	74421007	74421008	+	5'Flank	INS	-	-	G			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr15:74421007_74421008insG	ENST00000361742.3	+	0	0				ISLR2_ENST00000435464.1_5'Flank|ISLR2_ENST00000453268.2_5'Flank|RP11-247C2.2_ENST00000563727.1_Frame_Shift_Ins_p.R24fs|ISLR2_ENST00000445793.1_5'Flank|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_5'Flank|RP11-247C2.2_ENST00000514871.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2						positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AGGTAAAAACCGGCGGAGGGCC	0.604																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624		15.37:g.74421009_74421009dupG	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K352|Q9P263	Frame_Shift_Ins	INS	NULL	p.R24fs	ENST00000361742.3	37	c.71_70	CCDS10259.1	15																																																																																			RP11-247C2.2	-	NULL		0.604	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248540	Clone_based_vega_gene	protein_coding	OTTHUMT00000269046.1	-	NM_020851		74421008	-1	no_errors	ENST00000563727	ensembl	human	putative	70_37	frame_shift_ins	INS	0.000:0.000	G
ADCY8	114	genome.wustl.edu	37	8	131955571	131955571	+	Intron	SNP	C	C	T	rs112103373		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr8:131955571C>T	ENST00000286355.5	-	4	3446				ADCY8_ENST00000377928.3_Intron|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCAAAAGACGAGGAGGAAA	0.483										HNSCC(32;0.087)																																							0													37.0	35.0	36.0					8																	131955571		2203	4300	6503	SO:0001627	intron_variant	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1353+25G>A	8.37:g.131955571C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000286355.5	37	NULL	CCDS6363.1	8																																																																																			RP11-737F9.1	-	-		0.483	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253992	Clone_based_vega_gene	protein_coding	OTTHUMT00000380080.1	C			131955571	+1	no_errors	ENST00000523318	ensembl	human	known	70_37	rna	SNP	0.000	T
FAM157B	100132403	genome.wustl.edu	37	9	141107563	141107563	+	lincRNA	SNP	A	A	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr9:141107563A>T	ENST00000446912.2	+	0	46							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		cagcagcagcagcagcagcaA	0.547																																																	0													3.0	8.0	7.0					9																	141107563		369	1036	1405			100132403					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107563A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-		0.547	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	A	NM_001145249		141107563	+1	no_errors	ENST00000446912	ensembl	human	known	70_37	rna	SNP	0.171	T
FAM47B	170062	genome.wustl.edu	37	X	34961911	34961911	+	Silent	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chrX:34961911G>A	ENST00000329357.5	+	1	999	c.963G>A	c.(961-963)ccG>ccA	p.P321P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	321	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTCCCG	0.592																																																	0													55.0	53.0	54.0					X																	34961911		2202	4300	6502	SO:0001819	synonymous_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.963G>A	X.37:g.34961911G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.P321	ENST00000329357.5	37	c.963	CCDS14236.1	X																																																																																			FAM47B	-	NULL		0.592	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	G	NM_152631		34961911	+1	no_errors	ENST00000329357	ensembl	human	known	70_37	silent	SNP	0.998	A
FAT4	79633	genome.wustl.edu	37	4	126408724	126408724	+	Silent	SNP	A	A	G			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr4:126408724A>G	ENST00000394329.3	+	16	13054	c.13041A>G	c.(13039-13041)ggA>ggG	p.G4347G	FAT4_ENST00000335110.5_Silent_p.G2588G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4347	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTTGGAGGAATTCCACCCA	0.393																																																	0													70.0	68.0	69.0					4																	126408724		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13041A>G	4.37:g.126408724A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4347	ENST00000394329.3	37	c.13041	CCDS3732.3	4																																																																																			FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126408724	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.995	G
GSTA4	2941	genome.wustl.edu	37	6	52852197	52852197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr6:52852197C>A	ENST00000370959.1	-	3	214	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Intron|GSTA4_ENST00000370960.1_Intron			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	33	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCAGAAATTCTTCATCAAAC	0.313																																																	0													161.0	164.0	163.0					6																	52852197		2203	4300	6503	SO:0001587	stop_gained	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.97G>T	6.37:g.52852197C>A	ENSP00000359998:p.Glu33*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Nonsense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E33*	ENST00000370959.1	37	c.97	CCDS4948.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.865502	0.97043	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	.	.	.	5.5	4.62	0.57501	.	0.408106	0.27266	N	0.020150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7925	11.166	0.48543	0.0:0.8639:0.0:0.1361	.	.	.	.	X	33	.	ENSP00000359998:E33X	E	-	1	0	GSTA4	52960156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.897000	0.28390	2.731000	0.93534	0.555000	0.69702	GAA	GSTA4	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.313	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA4	HGNC	protein_coding	OTTHUMT00000040946.1	C	NM_001512		52852197	-1	no_errors	ENST00000370959	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIR3DL1	3811	genome.wustl.edu	37	19	55284906	55284906	+	Intron	SNP	G	G	C			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:55284906G>C	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.G64G|KIR2DL1_ENST00000291633.7_Silent_p.G64G|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGAGAGGGGATGTTTAACG	0.532																																																	0													98.0	84.0	89.0					19																	55284906		2171	4179	6350	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44083G>C	19.37:g.55284906G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G64	ENST00000538269.1	37	c.192		19																																																																																			KIR2DL1	-	pfam_Immunoglobulin,smart_Ig_sub		0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		G	NM_013289		55284906	+1	no_errors	ENST00000336077	ensembl	human	known	70_37	silent	SNP	0.003	C
LINC00266-1	140849	genome.wustl.edu	37	20	62934863	62934864	+	RNA	INS	-	-	TT	rs370163240|rs4057443		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr20:62934863_62934864insTT	ENST00000279067.3	+	0	879_880					NR_040415.1				long intergenic non-protein coding RNA 266-1																		GTAATTTTAACTGTGATTTATT	0.332																																																	0																																												140849			BC118988		20q13.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000149656	ENSG00000149656		"""Long non-coding RNAs"""	16202	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 69"", ""non-protein coding RNA 266"", ""non-protein coding RNA 266-1"""	C20orf69, NCRNA00266, NCRNA00266-1			Standard	NR_040415		Approved	bA476I15.3	uc002yio.1		OTTHUMG00000033036		20.37:g.62934863_62934864insTT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000279067.3	37	NULL		20																																																																																			LINC00266-1	-	-		0.332	LINC00266-1-001	KNOWN	basic	processed_transcript	LINC00266-1	HGNC	processed_transcript	OTTHUMT00000080304.2	-			62934864	+1	no_errors	ENST00000279067	ensembl	human	known	70_37	rna	INS	0.448:0.498	TT
LINC00675	100289255	genome.wustl.edu	37	17	10707112	10707112	+	lincRNA	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr17:10707112G>T	ENST00000581851.1	-	0	304				CTC-297N7.5_ENST00000580899.1_RNA	NR_036581.1				long intergenic non-protein coding RNA 675																		AGTAGGCTGAGAGCCAGGATC	0.557																																																	0																																												100289255			BC015790		17p13.1-p12	2012-10-12			ENSG00000263429	ENSG00000263429		"""Long non-coding RNAs"""	44356	non-coding RNA	RNA, long non-coding							Standard	NR_036581		Approved		uc002gmz.3		OTTHUMG00000132847		17.37:g.10707112G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L57I	ENST00000581851.1	37	c.169		17																																																																																			LINC00675	-	NULL		0.557	LINC00675-001	KNOWN	basic|exp_conf	lincRNA	LINC00675	HGNC	lincRNA	OTTHUMT00000256321.3	G	NR_036581		10707112	-1	no_errors	ENST00000580310	ensembl	human	novel	70_37	missense	SNP	0.173	T
LOC344967	344967	genome.wustl.edu	37	4	40045490	40045490	+	RNA	SNP	G	G	C			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr4:40045490G>C	ENST00000381811.2	-	0	659					NR_027277.1																						TCCACAGAGTGCTTGGAGGTG	0.597																																																	0																																												344967																															4.37:g.40045490G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-		0.597	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	G			40045490	-1	no_errors	ENST00000381811	ensembl	human	known	70_37	rna	SNP	1.000	C
MAPK8	5599	genome.wustl.edu	37	10	49634660	49634660	+	Intron	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr10:49634660G>A	ENST00000374189.1	+	9	1177				MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|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)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACATGATGATGATGTTTTTCT	0.318																																																	0																																										SO:0001627	intron_variant	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.996+113G>A	10.37:g.49634660G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	RNA	SNP	-	NULL	ENST00000374189.1	37	NULL	CCDS7224.1	10																																																																																			MAPK8	-	-		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	G			49634660	+1	no_errors	ENST00000469110	ensembl	human	known	70_37	rna	SNP	0.001	A
LRIT1	26103	genome.wustl.edu	37	10	86001174	86001174	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr10:86001174G>T	ENST00000372105.3	-	1	43	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	8						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AAGAGCCAGAGCATGCCTAAT	0.677																																																	0													17.0	18.0	18.0					10																	86001174		2198	4297	6495	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.22C>A	10.37:g.86001174G>T	ENSP00000361177:p.Leu8Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L8I	ENST00000372105.3	37	c.22	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474007	0.63737	.	.	ENSG00000148602	ENST00000372105	T	0.41400	1.0	4.46	3.53	0.40419	.	0.323980	0.29034	N	0.013343	T	0.39226	0.1070	M	0.77486	2.375	0.35115	D	0.766463	P	0.43024	0.798	B	0.39465	0.3	T	0.55897	-0.8068	10	0.49607	T	0.09	.	5.0193	0.14352	0.1859:0.1805:0.6336:0.0	.	8	Q9P2V4	LRIT1_HUMAN	I	8	ENSP00000361177:L8I	ENSP00000361177:L8I	L	-	1	0	LRIT1	85991154	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.741000	0.38238	2.298000	0.77334	0.491000	0.48974	CTC	LRIT1	-	NULL		0.677	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	G	NM_015613		86001174	-1	no_errors	ENST00000372105	ensembl	human	known	70_37	missense	SNP	0.992	T
MTOR	2475	genome.wustl.edu	37	1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:11190804C>T	ENST00000361445.4	-	39	5471	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_ENST00000376838.1_Missense_Mutation_p.E4K|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1799	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E1799K(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCACAGCTTCGAAGTTCATC	0.582																																																	4	Substitution - Missense(4)	endometrium(2)|large_intestine(1)|prostate(1)											121.0	74.0	90.0					1																	11190804		2200	4300	6500	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5395G>A	1.37:g.11190804C>T	ENSP00000354558:p.Glu1799Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1799K	ENST00000361445.4	37	c.5395	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414915	0.83449	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.71934	-0.61;-0.61	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.052549	0.85682	D	0.000000	T	0.71273	0.3320	L	0.49126	1.545	0.80722	D	1	P	0.46457	0.878	P	0.44897	0.463	T	0.71540	-0.4562	10	0.41790	T	0.15	-10.2886	19.5023	0.95100	0.0:1.0:0.0:0.0	.	1799	P42345	MTOR_HUMAN	K	1799;4	ENSP00000354558:E1799K;ENSP00000366034:E4K	ENSP00000354558:E1799K	E	-	1	0	MTOR	11113391	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.447000	0.80620	2.605000	0.88082	0.591000	0.81541	GAA	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11190804	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10216514	10216514	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr17:10216514G>A	ENST00000418404.3	-	29	4305	c.4142C>T	c.(4141-4143)aCg>aTg	p.T1381M	MYH13_ENST00000252172.4_Missense_Mutation_p.T1381M|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1381					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATGGCGTCCGTCTCGTATTT	0.627																																																	0													168.0	157.0	161.0					17																	10216514		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4142C>T	17.37:g.10216514G>A	ENSP00000404570:p.Thr1381Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1381M	ENST00000418404.3	37	c.4142	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355626	0.82243	.	.	ENSG00000006788	ENST00000252172	D	0.83075	-1.68	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.93762	0.8006	H	0.96208	3.785	0.47621	D	0.999474	D	0.71674	0.998	D	0.76575	0.988	D	0.95939	0.8945	9	0.87932	D	0	.	16.5699	0.84608	0.0:0.0:1.0:0.0	.	1381	Q9UKX3	MYH13_HUMAN	M	1381	ENSP00000252172:T1381M	ENSP00000252172:T1381M	T	-	2	0	MYH13	10157239	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.373000	0.73128	2.207000	0.71202	0.462000	0.41574	ACG	MYH13	-	pfam_Myosin_tail		0.627	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10216514	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	A
NDUFB10	4716	genome.wustl.edu	37	16	2011218	2011218	+	Silent	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr16:2011218G>T	ENST00000268668.6	+	2	312	c.195G>T	c.(193-195)gtG>gtT	p.V65V	SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Silent_p.V65V|NDUFB10_ENST00000569148.1_Silent_p.V65V	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	65					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						ACCGCCGCGTGCCAGACATCA	0.517																																																	0													153.0	116.0	128.0					16																	2011218		2199	4300	6499	SO:0001819	synonymous_variant	4716			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.195G>T	16.37:g.2011218G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96II6	Silent	SNP	pfam_NADH_UbQ_OxRdtase_su10	p.V65	ENST00000268668.6	37	c.195	CCDS10451.1	16																																																																																			NDUFB10	-	pfam_NADH_UbQ_OxRdtase_su10		0.517	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2	G	NM_004548		2011218	+1	no_errors	ENST00000268668	ensembl	human	known	70_37	silent	SNP	1.000	T
OCA2	4948	genome.wustl.edu	37	15	28263672	28263672	+	Silent	SNP	C	C	T	rs143734809	byFrequency	TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr15:28263672C>T	ENST00000354638.3	-	7	833	c.678G>A	c.(676-678)acG>acA	p.T226T	OCA2_ENST00000353809.5_Silent_p.T226T|OCA2_ENST00000382996.2_Silent_p.T226T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	226					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGCAGCAGCGTGGAGTCCA	0.652									Oculocutaneous Albinism				C|||	5	0.000998403	0.003	0.0014	5008	,	,		17008	0.0		0.0	False		,,,				2504	0.0																0								C		15,4391		0,15,2188	28.0	24.0	25.0		678	-3.9	0.0	15	dbSNP_134	25	0,8600		0,0,4300	no	coding-synonymous	OCA2	NM_000275.2		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		226/839	28263672	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.678G>A	15.37:g.28263672C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.T226	ENST00000354638.3	37	c.678	CCDS10020.1	15																																																																																			OCA2	-	NULL		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	C	NM_000275		28263672	-1	no_errors	ENST00000354638	ensembl	human	known	70_37	silent	SNP	0.038	T
OR4K15	81127	genome.wustl.edu	37	14	20444114	20444114	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr14:20444114G>A	ENST00000305051.5	+	1	512	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGTTATGTTGCT	0.463																																																	0													148.0	141.0	144.0					14																	20444114		2203	4299	6502	SO:0001583	missense	81127				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.437G>A	14.37:g.20444114G>A	ENSP00000304077:p.Arg146His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R146H	ENST00000305051.5	37	c.437	CCDS32026.1	14	.	.	.	.	.	.	.	.	.	.	.	20.9	4.068382	0.76301	.	.	ENSG00000169488	ENST00000305051	T	0.77489	-1.1	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	D	0.82370	0.5022	M	0.91612	3.225	0.40575	D	0.981339	P	0.51933	0.949	B	0.43413	0.419	D	0.87883	0.2679	10	0.87932	D	0	.	13.1907	0.59709	0.0:0.0:1.0:0.0	.	146	Q8NH41	OR4KF_HUMAN	H	146	ENSP00000304077:R146H	ENSP00000304077:R146H	R	+	2	0	OR4K15	19513954	0.907000	0.30839	0.989000	0.46669	0.900000	0.52787	4.979000	0.63806	1.940000	0.56252	0.585000	0.79938	CGT	OR4K15	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	HGNC	protein_coding	OTTHUMT00000409883.1	G			20444114	+1	no_errors	ENST00000305051	ensembl	human	known	70_37	missense	SNP	0.995	A
P2RX6	9127	genome.wustl.edu	37	22	21369471	21369471	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr22:21369471C>T	ENST00000413302.2	+	1	156	c.8C>T	c.(7-9)cCg>cTg	p.P3L	P2RX6_ENST00000443995.3_5'Flank|P2RX6_ENST00000336296.2_5'UTR|TUBA3FP_ENST00000422086.1_RNA|P2RX6_ENST00000401443.1_Missense_Mutation_p.P3L|P2RX6_ENST00000402329.3_5'UTR|P2RX6_ENST00000591411.1_Intron			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	3					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CTCATGTGCCCGCAGCTAGCA	0.607																																																	0													24.0	30.0	28.0					22																	21369471		2203	4300	6503	SO:0001583	missense	9127				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.8C>T	22.37:g.21369471C>T	ENSP00000416193:p.Pro3Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.P3L	ENST00000413302.2	37	c.8	CCDS13788.2	22	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627019	0.00813	.	.	ENSG00000099957	ENST00000413302;ENST00000401443	T;T	0.11169	3.42;2.8	4.15	-8.3	0.01005	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.21579	N	0.99963	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32613	-0.9900	9	0.02654	T	1	.	2.9293	0.05794	0.1214:0.2559:0.3832:0.2395	.	3;3	O15547;F6V3D7	P2RX6_HUMAN;.	L	3	ENSP00000416193:P3L;ENSP00000385309:P3L	ENSP00000385309:P3L	P	+	2	0	P2RX6	19699471	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.638000	0.05452	-3.586000	0.00136	-1.943000	0.00494	CCG	P2RX6	-	NULL		0.607	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	C	NM_005446		21369471	+1	no_errors	ENST00000413302	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDHGA5	56110	genome.wustl.edu	37	5	140745607	140745607	+	Silent	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr5:140745607C>T	ENST00000518069.1	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACGG	0.622																																																	0													124.0	137.0	133.0					5																	140745607		2203	4300	6503	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1710C>T	5.37:g.140745607C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D570	ENST00000518069.1	37	c.1710	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like		0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	C	NM_018918		140745607	+1	no_errors	ENST00000518069	ensembl	human	known	70_37	silent	SNP	0.437	T
PHC2	1912	genome.wustl.edu	37	1	33799839	33799839	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:33799839G>T	ENST00000257118.5	-	9	1663	c.1610C>A	c.(1609-1611)aCc>aAc	p.T537N	RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.T2N|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.T143N|PHC2_ENST00000431992.1_Missense_Mutation_p.T508N|PHC2_ENST00000373416.1_Missense_Mutation_p.T2N|PHC2_ENST00000419414.2_Missense_Mutation_p.T538N	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	537					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTTCCCTGAGGTCATGCCGGG	0.567																																																	0													133.0	128.0	129.0					1																	33799839		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1610C>A	1.37:g.33799839G>T	ENSP00000257118:p.Thr537Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T538N	ENST00000257118.5	37	c.1613	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922969	0.92319	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	6.17	6.17	0.99709	.	0.046262	0.85682	D	0.000000	T	0.69780	0.3149	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.60984	-0.7154	10	0.15499	T	0.54	-11.3289	18.3732	0.90420	0.0:0.0:1.0:0.0	.	538;509;537	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	N	508;537;143;2;116;538;2	ENSP00000389436:T508N;ENSP00000257118:T537N;ENSP00000362521:T143N;ENSP00000391440:T538N	ENSP00000257118:T537N	T	-	2	0	PHC2	33572426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.524000	0.90579	2.941000	0.99782	0.655000	0.94253	ACC	PHC2	-	NULL		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33799839	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	T
PHLDA1	22822	genome.wustl.edu	37	12	76424952	76424952	+	Missense_Mutation	SNP	C	C	G	rs200070422		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr12:76424952C>G	ENST00000266671.5	-	1	2760	c.570G>C	c.(568-570)caG>caC	p.Q190H	RP11-290L1.2_ENST00000547721.1_RNA|RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.Q49H			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	190	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgctgctggtgttgca	0.647																																																	0													15.0	16.0	16.0					12																	76424952		2187	4269	6456	SO:0001583	missense	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.570G>C	12.37:g.76424952C>G	ENSP00000266671:p.Gln190His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.Q190H	ENST00000266671.5	37	c.570	CCDS31861.1	12	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847435	0.32606	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.25749	1.78	3.66	2.74	0.32292	Pleckstrin homology domain (1);	.	.	.	.	T	0.15478	0.0373	N	0.14661	0.345	0.26866	N	0.967856	B	0.06786	0.001	B	0.04013	0.001	T	0.19549	-1.0302	9	0.87932	D	0	.	8.7699	0.34726	0.0:0.767:0.233:0.0	.	190	Q8WV24	PHLA1_HUMAN	H	190;49	ENSP00000266671:Q190H	ENSP00000266671:Q190H	Q	-	3	2	PHLDA1	74711219	0.991000	0.36638	0.886000	0.34754	0.865000	0.49528	0.349000	0.20055	0.710000	0.31997	0.561000	0.74099	CAG	PHLDA1	-	smart_Pleckstrin_homology		0.647	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	C	NM_007350		76424952	-1	no_errors	ENST00000266671	ensembl	human	known	70_37	missense	SNP	0.996	G
PPEF1	5475	genome.wustl.edu	37	X	18800495	18800495	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chrX:18800495C>T	ENST00000361511.4	+	11	1231	c.737C>T	c.(736-738)aCg>aTg	p.T246M	PPEF1_ENST00000543630.1_Missense_Mutation_p.T246M|PPEF1_ENST00000359763.6_Missense_Mutation_p.T193M|PPEF1_ENST00000349874.5_Missense_Mutation_p.T246M|PPEF1_ENST00000544635.1_Missense_Mutation_p.T181M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	246	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATGGCTTCACGAAAGAAATT	0.313																																																	0													91.0	84.0	86.0					X																	18800495		2201	4298	6499	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.737C>T	X.37:g.18800495C>T	ENSP00000354871:p.Thr246Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.T246M	ENST00000361511.4	37	c.737	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855000	0.71719	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.56097	D	0.000031	T	0.23054	0.0557	M	0.69185	2.1	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00754	-1.1580	10	0.35671	T	0.21	-17.4786	16.4211	0.83759	0.0:1.0:0.0:0.0	.	246;246;246	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	M	246;193;246;246;181	ENSP00000354871:T246M;ENSP00000352806:T193M;ENSP00000341892:T246M;ENSP00000437785:T246M;ENSP00000441289:T181M	ENSP00000341892:T246M	T	+	2	0	PPEF1	18710416	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.323000	0.65858	2.163000	0.67991	0.600000	0.82982	ACG	PPEF1	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase		0.313	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	C	NM_006240		18800495	+1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104356772	104356772	+	Intron	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr9:104356772G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.G147G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCTTCCCATCGCCATCCTTGT	0.512																																																	0													128.0	109.0	115.0					9																	104356772		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15130C>T	9.37:g.104356772G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin,prints_Parvalbumin	p.G147	ENST00000361820.3	37	c.441	CCDS6758.1	9																																																																																			PPP3R2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	G			104356772	-1	no_errors	ENST00000374806	ensembl	human	known	70_37	silent	SNP	0.678	A
RAC1	5879	genome.wustl.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																																	2	Substitution - Missense(2)	endometrium(2)											133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A178V	ENST00000348035.4	37	c.533	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG	RAC1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	C	NM_018890		6441974	+1	no_errors	ENST00000356142	ensembl	human	known	70_37	missense	SNP	1.000	T
REEP4	80346	genome.wustl.edu	37	8	21996983	21996983	+	Missense_Mutation	SNP	G	G	T	rs531148000		TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr8:21996983G>T	ENST00000306306.3	-	5	831	c.363C>A	c.(361-363)ttC>ttA	p.F121L	REEP4_ENST00000523293.1_Missense_Mutation_p.F121L|REEP4_ENST00000334530.5_Missense_Mutation_p.F121L	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	121					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CCCGCTTCCCGAAGCTGAGCA	0.662																																																	0													71.0	59.0	63.0					8																	21996983		2203	4300	6503	SO:0001583	missense	80346			BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.363C>A	8.37:g.21996983G>T	ENSP00000303482:p.Phe121Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.F121L	ENST00000306306.3	37	c.363	CCDS6024.1	8	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779980	0.31502	.	.	ENSG00000168476	ENST00000334530;ENST00000306306;ENST00000523293;ENST00000518664	D;D;D;D	0.87334	-2.15;-1.73;-2.24;-2.19	4.38	-2.34	0.06704	.	0.113059	0.38326	N	0.001732	T	0.71169	0.3308	L	0.29908	0.895	0.34148	D	0.667187	B;B;P	0.43412	0.05;0.008;0.806	B;B;B	0.36922	0.042;0.054;0.236	T	0.73525	-0.3955	10	0.07813	T	0.8	0.0096	9.5214	0.39138	0.5052:0.0:0.4948:0.0	.	121;121;121	B4DYB6;Q9H6H4-2;Q9H6H4	.;.;REEP4_HUMAN	L	121	ENSP00000333889:F121L;ENSP00000303482:F121L;ENSP00000428709:F121L;ENSP00000428160:F121L	ENSP00000303482:F121L	F	-	3	2	REEP4	22052928	0.019000	0.18553	0.992000	0.48379	0.750000	0.42670	-0.593000	0.05740	-0.504000	0.06577	-0.367000	0.07326	TTC	REEP4	-	NULL		0.662	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP4	HGNC	protein_coding	OTTHUMT00000254337.2	G	NM_025232		21996983	-1	no_errors	ENST00000306306	ensembl	human	known	70_37	missense	SNP	0.998	T
GNAI3	2773	genome.wustl.edu	37	1	110134211	110134211	+	Intron	DEL	A	A	-	rs397981180|rs34049073	byFrequency	TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr1:110134211delA	ENST00000369851.4	+	8	984				RNU6V_ENST00000384105.1_RNA	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ggactgtgctaatcttctctg	0.408													AA|AA|A|deletion	1157	0.23103	0.1687	0.1556	5008	,	,		18136	0.3373		0.17	False		,,,				2504	0.3221																0																																										SO:0001627	intron_variant	6071			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.875-454A>-	1.37:g.110134211delA		Somatic		WXS	Illumina HiSeq	Phase_IV	P17539|Q5TZX1	RNA	DEL	-	NULL	ENST00000369851.4	37	NULL	CCDS802.1	1																																																																																			RNU6V	-	-		0.408	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU6V	HGNC	protein_coding	OTTHUMT00000032222.1	A	NM_006496		110134211	-1	no_errors	ENST00000384105	ensembl	human	known	70_37	rna	DEL	0.851	-
SCD5	79966	genome.wustl.edu	37	4	83601868	83601868	+	Silent	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr4:83601868G>A	ENST00000319540.4	-	3	880	c.561C>T	c.(559-561)atC>atT	p.I187I	SCD5_ENST00000273908.4_Silent_p.I187I	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	187					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACTTTCTCTGGATCCGGACCA	0.512																																																	0													82.0	77.0	79.0					4																	83601868		2203	4300	6503	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.561C>T	4.37:g.83601868G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.I187	ENST00000319540.4	37	c.561	CCDS34024.1	4																																																																																			SCD5	-	pfam_Fatty_acid_desaturase-1		0.512	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	G	NM_024906		83601868	-1	no_errors	ENST00000319540	ensembl	human	known	70_37	silent	SNP	1.000	A
SIN3B	23309	genome.wustl.edu	37	19	16989122	16989122	+	Missense_Mutation	SNP	T	T	C			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:16989122T>C	ENST00000248054.5	+	18	3104	c.3083T>C	c.(3082-3084)cTc>cCc	p.L1028P	SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000379803.1_Missense_Mutation_p.L1060P|SIN3B_ENST00000595541.1_Missense_Mutation_p.L618P					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTTCAAGCTCAGCACTCAC	0.677																																																	0													29.0	23.0	25.0					19																	16989122		2202	4300	6502	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.3083T>C	19.37:g.16989122T>C	ENSP00000248054:p.Leu1028Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.L1060P	ENST00000248054.5	37	c.3179		19	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567000	0.65651	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.77;0.76	4.92	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.43923	1.385	0.80722	D	1	D;B;D	0.89917	1.0;0.451;0.999	D;B;D	0.91635	0.999;0.276;0.984	T	0.47849	-0.9085	10	0.21014	T	0.42	-41.0547	10.2798	0.43532	0.0:0.0785:0.0:0.9215	.	618;1028;1060	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	P	1060;1028	ENSP00000369131:L1060P;ENSP00000248054:L1028P	ENSP00000248054:L1028P	L	+	2	0	SIN3B	16850122	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.829000	0.86735	0.738000	0.32606	0.459000	0.35465	CTC	SIN3B	-	NULL		0.677	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	T	NM_015260		16989122	+1	no_errors	ENST00000379803	ensembl	human	known	70_37	missense	SNP	1.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88330416	88330416	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr13:88330416G>T	ENST00000325089.6	+	2	2992	c.2773G>T	c.(2773-2775)Gta>Tta	p.V925L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V684L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	925					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTGTCTTTGTAGAACCCAA	0.537																																																	0													91.0	100.0	97.0					13																	88330416		2203	4298	6501	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2773G>T	13.37:g.88330416G>T	ENSP00000366283:p.Val925Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V925L	ENST00000325089.6	37	c.2773	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228393	0.79576	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.62105	0.05;0.41	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.65015	0.2651	M	0.62723	1.935	0.58432	D	0.999998	P;P	0.45428	0.714;0.858	B;B	0.44108	0.113;0.441	T	0.64901	-0.6298	9	.	.	.	-5.8308	17.4922	0.87707	0.0:0.0:1.0:0.0	.	684;925	B4DSH5;O94991	.;SLIK5_HUMAN	L	925;684	ENSP00000366283:V925L;ENSP00000442244:V684L	.	V	+	1	0	SLITRK5	87128417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.620000	0.74224	2.724000	0.93272	0.561000	0.74099	GTA	SLITRK5	-	NULL		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88330416	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	1.000	T
USP42	84132	genome.wustl.edu	37	7	6189655	6189655	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr7:6189655G>A	ENST00000306177.5	+	13	1986	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	610					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.E738K(1)|p.E610K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTATGGCGCCGAGTCCTCTGA	0.567																																																	2	Substitution - Missense(2)	endometrium(2)											31.0	36.0	34.0					7																	6189655		2001	4177	6178	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1828G>A	7.37:g.6189655G>A	ENSP00000301962:p.Glu610Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E610K	ENST00000306177.5	37	c.1828	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.241804	0.95272	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.21734	1.99;2.4	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.38772	0.1053	L	0.34521	1.04	0.51012	D	0.999903	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.79784	0.985;0.993;0.985;0.912	T	0.03287	-1.1052	10	0.46703	T	0.11	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	573;610;610;610	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	K	610;456	ENSP00000301962:E610K;ENSP00000408217:E456K	ENSP00000301962:E610K	E	+	1	0	USP42	6156181	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	8.421000	0.90259	2.761000	0.94854	0.591000	0.81541	GAG	USP42	-	NULL		0.567	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	G	XM_166526		6189655	+1	no_errors	ENST00000306177	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM106B	54664	genome.wustl.edu	37	7	12255285	12255285	+	Intron	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr7:12255285C>T	ENST00000396667.3	+	3	539				TMEM106B_ENST00000396668.3_Intron|TMEM106B_ENST00000453686.1_3'UTR	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B						cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ctcaagcgatcatccagcctt	0.363																																																	0																																										SO:0001627	intron_variant	54664			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.217+632C>T	7.37:g.12255285C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D108|Q53FL9|Q8N4L0	Silent	SNP	pfam_DUF1356_TMEM106	p.I91	ENST00000396667.3	37	c.273	CCDS5358.1	7																																																																																			TMEM106B	-	NULL		0.363	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106B	HGNC	protein_coding	OTTHUMT00000246870.3	C	NM_018374		12255285	+1	no_errors	ENST00000420833	ensembl	human	known	70_37	silent	SNP	0.037	T
ZNF71	58491	genome.wustl.edu	37	19	57132752	57132752	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A449-01A-11D-A243-09	TCGA-EX-A449-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb9870a-29fc-4eea-afed-b0b63fac10f1	f953aee9-2d96-4247-a737-20f021934cf3	g.chr19:57132752C>T	ENST00000328070.6	+	3	331	c.97C>T	c.(97-99)Cct>Tct	p.P33S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCCAGGGGTCCTGGCTCAGA	0.587																																																	0													36.0	38.0	38.0					19																	57132752		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.97C>T	19.37:g.57132752C>T	ENSP00000328245:p.Pro33Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P33S	ENST00000328070.6	37	c.97	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420306	0.01136	.	.	ENSG00000197951	ENST00000328070	T	0.06142	3.34	2.52	-3.0	0.05480	.	.	.	.	.	T	0.02807	0.0084	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.05351	T	0.99	.	3.1896	0.06613	0.404:0.4052:0.0:0.1908	.	33	Q9NQZ8	ZNF71_HUMAN	S	33	ENSP00000328245:P33S	ENSP00000328245:P33S	P	+	1	0	ZNF71	61824564	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.481000	0.02323	-0.655000	0.05387	0.561000	0.74099	CCT	ZNF71	-	NULL		0.587	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57132752	+1	no_errors	ENST00000328070	ensembl	human	known	70_37	missense	SNP	0.000	T
