#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PSME1	5720	broad.mit.edu	37	14	24606640	24606640	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:24606640G>A	ENST00000206451.6	+	4	351	c.246G>A	c.(244-246)gaG>gaA	p.E82E	PSME1_ENST00000470718.1_3'UTR|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Splice_Site_p.E82E|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_Splice_Site_p.E82E|RP11-468E2.5_ENST00000558478.1_lincRNA	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AACAGCAGGAGGCAAGCTGGG	0.507																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.e4+1		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							105.0	124.0	117.0					14																	24606640		2203	4300	6503	SO:0001630	splice_region_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606640G>A		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.246+1G>A	14.37:g.24606640G>A						PSME1_ENST00000561435.1_Splice_Site_p.E82_splice|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Splice_Site_p.E82_splice|PSME1_ENST00000559123.1_5'UTR	p.E82_splice	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	4	309	+			82					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Splice_Site	SNP	ENST00000206451.6	37	c.246_splice	CCDS9612.1																																																																																				0.507	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263	Silent	30	8	0	0	0	1	0	30	8				
PDGFRB	5159	broad.mit.edu	37	5	149513469	149513469	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:149513469A>C	ENST00000261799.4	-	5	1203	c.734T>G	c.(733-735)tTc>tGc	p.F245C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	245	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCACTCGAAGTTGACCAC	0.567			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(733-735)tTc>tGc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						86.0	81.0	83.0					5																	149513469		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149513469A>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.734T>G	5.37:g.149513469A>C	ENSP00000261799:p.Phe245Cys						p.F245C	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1203	-		all_hematologic(541;0.224)	245			Ig-like C2-type 3.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.734T>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365065	0.61513	.	.	ENSG00000113721	ENST00000261799	T	0.14640	2.49	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.37652	0.1011	M	0.77486	2.375	0.48696	D	0.999698	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	T	0.14254	-1.0479	10	0.54805	T	0.06	.	12.0431	0.53464	0.8709:0.0:0.0:0.1291	.	245;245;245	B5A957;A8KAM8;P09619	.;.;PGFRB_HUMAN	C	245	ENSP00000261799:F245C	ENSP00000261799:F245C	F	-	2	0	PDGFRB	149493662	1.000000	0.71417	0.967000	0.41034	0.488000	0.33401	5.664000	0.68045	2.270000	0.75569	0.460000	0.39030	TTC		0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		26	17	0	0	0	1	0	26	17				
CSF2RA	1438	broad.mit.edu	37	X	1422832	1422832	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:1422832C>A	ENST00000381524.3	+	11	1149	c.963C>A	c.(961-963)aaC>aaA	p.N321K	CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000501036.2_Missense_Mutation_p.N188K|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.N321K|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N355K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000494969.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	321					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGACGGGAACCTCGGCTCTG	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(961-963)aaC>aaA		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						459.0	406.0	424.0					X																	1422832		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1422832C>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.963C>A	X.37:g.1422832C>A	ENSP00000370935:p.Asn321Lys					CSF2RA_ENST00000432318.2_Missense_Mutation_p.N321K|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N355K|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.N188K|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000355805.2_Intron	p.N321K			P15509	CSF2R_HUMAN			11	1149	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	321					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.963C>A	CCDS35191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.713634|-2.713634	0.00094|0.00094	.|.	.|.	ENSG00000198223|ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535|ENST00000381507	T;T;T;T;T;D|.	0.91351|.	1.75;1.75;1.75;1.75;1.75;-2.83|.	0.806|0.806	-1.61|-1.61	0.08399|0.08399	.|.	4.565330|.	0.02805|.	U|.	0.123596|.	T|T	0.25865|0.25865	0.0630|0.0630	.|.	.|.	.|.	0.20403|0.20403	N|N	0.999907|0.999907	B;B;B|.	0.25169|.	0.119;0.047;0.03|.	B;B;B|.	0.23018|.	0.043;0.04;0.013|.	T|T	0.21449|0.21449	-1.0245|-1.0245	9|5	0.02654|0.41790	T|T	1|0.15	.|.	3.0361|3.0361	0.06122|0.06122	0.3251:0.2572:0.4176:0.0|0.3251:0.2572:0.4176:0.0	.|.	321;355;321|.	P15509-2;A7J003;P15509|.	.;.;CSF2R_HUMAN|.	K|N	321;321;188;321;321;355|277	ENSP00000370940:N321K;ENSP00000416437:N321K;ENSP00000440491:N188K;ENSP00000370935:N321K;ENSP00000370920:N321K;ENSP00000394227:N355K|.	ENSP00000370920:N321K|ENSP00000370918:T277N	N|T	+|+	3|2	2|0	CSF2RA|CSF2RA	1382832|1382832	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-1.379000|-1.379000	0.02554|0.02554	-1.638000|-1.638000	0.01529|0.01529	0.100000|0.100000	0.15512|0.15512	AAC|ACC		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			7	287	1	0	0.00307968	1	0.00311315	7	287				
FZD9	8326	broad.mit.edu	37	7	72849620	72849620	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:72849620G>A	ENST00000344575.3	+	1	1512	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	428					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCACATCCGCAAGATCATG	0.617																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1282-1284)cGc>cAc		frizzled family receptor 9							50.0	51.0	51.0					7																	72849620		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849620G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1283G>A	7.37:g.72849620G>A	ENSP00000345785:p.Arg428His						p.R428H	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1512	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	428						Missense_Mutation	SNP	ENST00000344575.3	37	c.1283G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206411	0.79127	.	.	ENSG00000188763	ENST00000344575	D	0.85702	-2.02	4.09	4.09	0.47781	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.93400	0.7895	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94968	0.8114	10	0.87932	D	0	.	15.6417	0.77009	0.0:0.0:1.0:0.0	.	428	O00144	FZD9_HUMAN	H	428	ENSP00000345785:R428H	ENSP00000345785:R428H	R	+	2	0	FZD9	72487556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	1.970000	0.57323	0.563000	0.77884	CGC		0.617	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			17	28	0	0	0	1	0	17	28				
PCLO	27445	broad.mit.edu	37	7	82580275	82580275	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:82580275T>A	ENST00000333891.9	-	6	9966	c.9629A>T	c.(9628-9630)cAa>cTa	p.Q3210L	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3210L|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGCTGTTGTTTATCTTC	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9628-9630)cAa>cTa		piccolo presynaptic cytomatrix protein							52.0	49.0	50.0					7																	82580275		1869	4118	5987	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580275T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9629A>T	7.37:g.82580275T>A	ENSP00000334319:p.Gln3210Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.Q3210L	p.Q3210L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	9966	-			3141			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9629A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	4.701	0.130418	0.08981	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23348	1.91;1.92	3.94	2.74	0.32292	.	.	.	.	.	T	0.28732	0.0712	L	0.46157	1.445	0.80722	D	1	P;P;P	0.46512	0.808;0.879;0.879	B;P;P	0.48627	0.122;0.503;0.584	T	0.03993	-1.0986	9	0.87932	D	0	.	8.9075	0.35532	0.0:0.0:0.1886:0.8114	.	3141;3210;3210	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3141;3210;3210	ENSP00000334319:Q3210L;ENSP00000388393:Q3210L	ENSP00000334319:Q3210L	Q	-	2	0	PCLO	82418211	1.000000	0.71417	0.957000	0.39632	0.952000	0.60782	3.961000	0.56759	0.831000	0.34780	0.260000	0.18958	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	68	0	0	0	1	0	10	68				
MUC17	140453	broad.mit.edu	37	7	100679149	100679149	+	Silent	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:100679149T>C	ENST00000306151.4	+	3	4516	c.4452T>C	c.(4450-4452)agT>agC	p.S1484S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1484	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCTAACAGTCCTGTGGTCA	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4450-4452)agT>agC		mucin 17, cell surface associated							155.0	162.0	160.0					7																	100679149		2203	4297	6500	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679149T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4452T>C	7.37:g.100679149T>C							p.S1484S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4516	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1484			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4452T>C	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	385	0	0	0	1	0	8	385				
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	rs199781597		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	93	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(277-279)aCg>aTg		semenogelin I		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	154.0	134.0	141.0		278	-0.2	0.0	20		141	0,8600		0,0,4300	yes	missense	SEMG1	NM_003007.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		93/463	43836216	2,13004	2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836216C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.278C>T	20.37:g.43836216C>T	ENSP00000361867:p.Thr93Met					SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	p.T93M	NM_003007.3	NP_002998.1					2	335	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.278C>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766462	0.02974	4.54E-4	0.0	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	1.07	-0.159	0.13379	.	.	.	.	.	T	0.12860	0.0312	L	0.36672	1.1	0.09310	N	1	B;D;P	0.89917	0.421;1.0;0.537	B;D;B	0.73708	0.05;0.981;0.113	T	0.25363	-1.0134	9	0.26408	T	0.33	.	2.9559	0.05876	0.0:0.3585:0.0:0.6415	.	93;93;93	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	M	93	ENSP00000244069:T93M;ENSP00000361867:T93M	ENSP00000244069:T93M	T	+	2	0	SEMG1	43269630	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.915000	0.04033	-0.080000	0.12685	-0.484000	0.04775	ACG		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		64	49	0	0	0	1	0	64	49				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	152	0	0	0	1	0	8	152				
TRIM69	140691	broad.mit.edu	37	15	45050943	45050943	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:45050943A>G	ENST00000559390.1	+	5	1632	c.704A>G	c.(703-705)gAg>gGg	p.E235G	TRIM69_ENST00000558173.1_Missense_Mutation_p.E31G|TRIM69_ENST00000329464.4_Missense_Mutation_p.E235G|TRIM69_ENST00000558329.1_Missense_Mutation_p.E31G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Missense_Mutation_p.E76G|TRIM69_ENST00000560442.1_Missense_Mutation_p.E31G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	235					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGAATGAGGAGATGGAGTTG	0.473																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(91-93)gAg>gGg		tripartite motif containing 69							91.0	82.0	85.0					15																	45050943		2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45050943A>G	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.704A>G	15.37:g.45050943A>G	ENSP00000453177:p.Glu235Gly					TRIM69_ENST00000559390.1_Missense_Mutation_p.E235G|TRIM69_ENST00000329464.4_Missense_Mutation_p.E235G|TRIM69_ENST00000560442.1_Missense_Mutation_p.E31G|TRIM69_ENST00000338264.4_Missense_Mutation_p.E76G|TRIM69_ENST00000558329.1_Missense_Mutation_p.E31G|TRIM69_ENST00000561043.1_Intron	p.E31G			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	4837	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	235		V -> A (in dbSNP:rs3759880).	Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.92A>G	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883808	0.91814	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57107	1.04;0.42	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000015	T	0.61590	0.2359	L	0.36672	1.1	0.43750	D	0.996252	D;D;D	0.76494	0.993;0.999;0.998	P;D;P	0.64687	0.869;0.928;0.907	T	0.62416	-0.6859	10	0.51188	T	0.08	.	14.3903	0.66973	1.0:0.0:0.0:0.0	.	31;76;235	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	G	235;76	ENSP00000332284:E235G;ENSP00000342922:E76G	ENSP00000332284:E235G	E	+	2	0	TRIM69	42838235	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.280000	0.51677	2.287000	0.76781	0.482000	0.46254	GAG		0.473	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			3	28	0	0	0	1	0	3	28				
FARP2	9855	broad.mit.edu	37	2	242433520	242433520	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:242433520G>C	ENST00000264042.3	+	27	3315	c.3145G>C	c.(3145-3147)Gtc>Ctc	p.V1049L	STK25_ENST00000316586.4_3'UTR|STK25_ENST00000478403.1_5'Flank	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1049					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGAGGGGATGGTCAGGGGGAA	0.617																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(3145-3147)Gtc>Ctc		FERM, RhoGEF and pleckstrin domain protein 2							38.0	40.0	40.0					2																	242433520		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242433520G>C	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3145G>C	2.37:g.242433520G>C	ENSP00000264042:p.Val1049Leu					STK25_ENST00000316586.4_3'UTR	p.V1049L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	27	3315	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1049					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.3145G>C	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.760|1.760	-0.486960|-0.486960	0.04352|0.04352	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000444371;ENST00000412332	T|.	0.74315|.	-0.83|.	1.82|1.82	-0.37|-0.37	0.12530|0.12530	.|.	5.159730|.	0.01464|.	U|.	0.015993|.	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28650|0.28650	-1.0037|-1.0037	10|5	0.62326|.	D|.	0.03|.	.|.	5.452|5.452	0.16570|0.16570	0.1356:0.3814:0.483:0.0|0.1356:0.3814:0.483:0.0	.|.	1049|.	O94887|.	FARP2_HUMAN|.	L|C	1049|191;50	ENSP00000264042:V1049L|.	ENSP00000264042:V1049L|.	V|W	+|+	1|3	0|0	FARP2|FARP2	242082193|242082193	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.428000|-0.428000	0.06991|0.06991	-0.106000|-0.106000	0.12110|0.12110	0.563000|0.563000	0.77884|0.77884	GTC|TGG		0.617	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			14	51	0	0	0	1	0	14	51				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	31	0	0	0	1	0	3	31				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	95	0	0	0	1	0	4	95				
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965541	33965541	+	RNA	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:33965541C>A	ENST00000363564.1	+	0	116									RNA, 5.8S ribosomal pseudogene 2																		CAATTGCAGCCCGGGTTCCTC	0.587																																						ENST00000363564.1																			0																				38.0	41.0	40.0					16																	33965541		1568	3582	5150			0							g.chr16:33965541C>A			16p11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000200434	ENSG00000200434			41956	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 2"""	RN5-8S2			Standard	NG_033434		Approved						16.37:g.33965541C>A														0	116	+									RNA	SNP	ENST00000363564.1	37																																																																																						0.587	RNA5-8SP2-201	KNOWN	basic	rRNA	rRNA				15	24	1	0	1.15088e-07	1	1.21627e-07	15	24				
CDC42BPG	55561	broad.mit.edu	37	11	64603246	64603246	+	Silent	SNP	C	C	T	rs375810376		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:64603246C>T	ENST00000342711.5	-	14	1745	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TGGCCTGGGACGACTCCTCAA	0.667																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1744-1746)tcG>tcA		CDC42 binding protein kinase gamma (DMPK-like)		C		1,4401	2.1+/-5.4	0,1,2200	68.0	57.0	61.0		1746	-8.6	0.0	11		61	0,8594		0,0,4297	no	coding-synonymous	CDC42BPG	NM_017525.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		582/1552	64603246	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603246C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1746G>A	11.37:g.64603246C>T							p.S582S	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			14	1745	-			582						Silent	SNP	ENST00000342711.5	37	c.1746G>A	CCDS31601.1																																																																																				0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	18	0	0	0	1	0	4	18				
SAFB2	9667	broad.mit.edu	37	19	5594175	5594175	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:5594175C>T	ENST00000252542.4	-	15	2198	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	645	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCCGCTCCCGCTGCTCGCG	0.672																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1933-1935)cGg>cAg		scaffold attachment factor B2							13.0	16.0	15.0					19																	5594175		2175	4266	6441	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5594175C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1934G>A	19.37:g.5594175C>T	ENSP00000252542:p.Arg645Gln						p.R645Q	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	15	2198	-			645			Arg-rich.|Glu-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.1934G>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861150	0.71949	.	.	ENSG00000130254	ENST00000252542	T	0.21191	2.02	4.26	4.26	0.50523	.	0.438290	0.19036	N	0.124417	T	0.34571	0.0902	L	0.59436	1.845	0.48087	D	0.999582	D	0.76494	0.999	P	0.56751	0.805	T	0.03887	-1.0995	10	0.36615	T	0.2	-4.7144	12.6404	0.56707	0.1661:0.8338:0.0:0.0	.	645	Q14151	SAFB2_HUMAN	Q	645	ENSP00000252542:R645Q	ENSP00000252542:R645Q	R	-	2	0	SAFB2	5545175	0.764000	0.28473	0.990000	0.47175	0.662000	0.39071	2.920000	0.48844	1.891000	0.54761	0.436000	0.28706	CGG		0.672	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		7	20	0	0	0	1	0	7	20				
COX10	1352	broad.mit.edu	37	17	13977745	13977745	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:13977745T>G	ENST00000261643.3	+	2	226	c.149T>G	c.(148-150)tTt>tGt	p.F50C	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.F50C|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	50					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGGATTACATTTCAGCACTTT	0.398																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(148-150)tTt>tGt		cytochrome c oxidase assembly homolog 10 (yeast)							190.0	186.0	187.0					17																	13977745		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13977745T>G	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.149T>G	17.37:g.13977745T>G	ENSP00000261643:p.Phe50Cys					COX10_ENST00000429152.2_Missense_Mutation_p.F50C|COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR	p.F50C	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	2	226	+		all_lung(20;0.06)|Lung SC(565;0.168)	50					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.149T>G	CCDS11166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.49|19.49	3.838335|3.838335	0.71373|0.71373	.|.	.|.	ENSG00000006695|ENSG00000006695	ENST00000261643|ENST00000429152	T|.	0.40476|.	1.03|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.180194|.	0.49916|.	D|.	0.000134|.	T|T	0.71298|0.71298	0.3323|0.3323	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.49683|.	0.619|.	T|T	0.71384|0.71384	-0.4609|-0.4609	10|5	0.66056|.	D|.	0.02|.	-10.7763|-10.7763	13.6682|13.6682	0.62409|0.62409	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	50|.	Q12887|.	COX10_HUMAN|.	C|M	50|10	ENSP00000261643:F50C|.	ENSP00000261643:F50C|.	F|I	+|+	2|3	0|3	COX10|COX10	13918470|13918470	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.987000|0.987000	0.75469|0.75469	4.138000|4.138000	0.58017|0.58017	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.398	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		68	96	0	0	0	1	0	68	96				
XDH	7498	broad.mit.edu	37	2	31589808	31589808	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:31589808G>A	ENST00000379416.3	-	21	2298	c.2250C>T	c.(2248-2250)acC>acT	p.T750T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	750					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAACAGCAATGGTGCAGTGAG	0.542																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2248-2250)acC>acT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						156.0	128.0	137.0					2																	31589808		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31589808G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2250C>T	2.37:g.31589808G>A							p.T750T	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			21	2298	-	Acute lymphoblastic leukemia(172;0.155)		750					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.2250C>T	CCDS1775.1																																																																																				0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		46	44	0	0	0	1	0	46	44				
NOS1	4842	broad.mit.edu	37	12	117691474	117691474	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:117691474A>G	ENST00000338101.4	-	17	2723	c.2719T>C	c.(2719-2721)Ttt>Ctt	p.F907L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.F873L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCACTCTCAAAGTTGTCTCTG	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2617-2619)Ttt>Ctt		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						86.0	91.0	89.0					12																	117691474		2118	4242	6360	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117691474A>G		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2719T>C	12.37:g.117691474A>G	ENSP00000337459:p.Phe907Leu					NOS1_ENST00000338101.4_Missense_Mutation_p.F907L|NOS1_ENST00000344089.3_3'UTR	p.F873L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	17	3302	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		873			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2617T>C	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364109	0.61513	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.56611	0.45;0.45	4.84	4.84	0.62591	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	N	0.02854	-0.475	0.80722	D	1	P	0.46064	0.872	P	0.54664	0.758	T	0.34825	-0.9813	10	0.11485	T	0.65	-8.15	14.5776	0.68262	1.0:0.0:0.0:0.0	.	873	P29475	NOS1_HUMAN	L	768;873;873;907	ENSP00000320758:F873L;ENSP00000337459:F907L	ENSP00000320758:F873L	F	-	1	0	NOS1	116175857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.108000	0.77055	2.042000	0.60477	0.533000	0.62120	TTT		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			41	25	0	0	0	1	0	41	25				
LAMA2	3908	broad.mit.edu	37	6	129828695	129828695	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:129828695T>A	ENST00000421865.2	+	62	8814	c.8765T>A	c.(8764-8766)cTg>cAg	p.L2922Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2922	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCGATCTGGAACAACCC	0.478																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8764-8766)cTg>cAg		laminin, alpha 2							144.0	132.0	136.0					6																	129828695		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828695T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8765T>A	6.37:g.129828695T>A	ENSP00000400365:p.Leu2922Gln						p.L2922Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	8814	+			2922			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8765T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040044	0.35989	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.73789	-0.78	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.229540	0.44285	D	0.000471	T	0.71779	0.3380	M	0.83012	2.62	0.58432	D	0.999996	D;D	0.54207	0.965;0.965	B;B	0.44163	0.443;0.443	T	0.77172	-0.2685	9	.	.	.	.	15.3688	0.74545	0.0:0.0:0.0:1.0	.	2923;2922	A6NF00;P24043	.;LAMA2_HUMAN	Q	2922;2921;2922;940	ENSP00000400365:L2922Q	.	L	+	2	0	LAMA2	129870388	1.000000	0.71417	0.104000	0.21259	0.191000	0.23601	6.396000	0.73234	2.047000	0.60756	0.402000	0.26972	CTG		0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			36	115	0	0	0	1	0	36	115				
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						ENST00000522353.2																			4	Substitution - Missense(4)	p.G97R(2)|p.G97W(2)	lung(4)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(289-291)Ggg>Cgg									129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	p.G97R	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	316	0	0	0	1	0	6	316				
TRIM36	55521	broad.mit.edu	37	5	114469804	114469804	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:114469804A>G	ENST00000282369.3	-	8	1408	c.1287T>C	c.(1285-1287)gtT>gtC	p.V429V	TRIM36_ENST00000514154.1_Silent_p.V274V|TRIM36_ENST00000513154.1_Silent_p.V417V	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATTGTTATAAACTTTGCTCT	0.328																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1249-1251)gtT>gtC		tripartite motif containing 36							93.0	86.0	89.0					5																	114469804		2202	4300	6502	SO:0001819	synonymous_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114469804A>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1287T>C	5.37:g.114469804A>G						TRIM36_ENST00000514154.1_Silent_p.V274V|TRIM36_ENST00000282369.3_Silent_p.V429V	p.V417V			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	8	1577	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	429			Fibronectin type-III.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	c.1251T>C	CCDS4115.1																																																																																				0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		3	68	0	0	0	1	0	3	68				
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1099-1101)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	70.0	76.0	74.0		1099	5.0	1.0	5	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	101	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	probably-damaging	367/684	148619346	5,13001	2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619346C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1099C>T	5.37:g.148619346C>T	ENSP00000425394:p.Arg367Trp					RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W	p.R367W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1581	+			367					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1099C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	ABLIM3	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		39	63	0	0	0	1	0	39	63				
LEMD1	93273	broad.mit.edu	37	1	205350789	205350789	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:205350789A>T	ENST00000367153.4	-	6	645	c.543T>A	c.(541-543)ggT>ggA	p.G181G	LEMD1_ENST00000391936.2_3'UTR|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367154.1_3'UTR|LEMD1_ENST00000367151.2_Silent_p.G140G|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Silent_p.G140G|LEMD1_ENST00000367149.3_3'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	181						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			AAATTACTTAACCAAACAGCG	0.488																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(541-543)ggT>ggA		LEM domain containing 1																																				SO:0001819	synonymous_variant	93273					integral to membrane|nuclear envelope		g.chr1:205350789A>T		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.543T>A	1.37:g.205350789A>T						LEMD1_ENST00000367152.1_Silent_p.G140G|LEMD1_ENST00000367151.2_Silent_p.G140G|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_3'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_3'UTR|LEMD1_ENST00000391936.2_3'UTR	p.G181G	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		6	645	-	Breast(84;0.247)		181					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Silent	SNP	ENST00000367153.4	37	c.543T>A	CCDS55679.1																																																																																				0.488	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		22	129	0	0	0	1	0	22	129				
IQCF2	389123	broad.mit.edu	37	3	51897231	51897231	+	Missense_Mutation	SNP	C	C	T	rs140755124		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:51897231C>T	ENST00000333127.3	+	3	369	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	114	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTATGTGGCGTGTCCGCTG	0.597																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(340-342)Cgt>Tgt		IQ motif containing F2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	128.0	130.0		340	4.2	1.0	3	dbSNP_134	130	0,8600		0,0,4300	no	missense	IQCF2	NM_203424.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	114/165	51897231	1,13005	2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897231C>T	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.340C>T	3.37:g.51897231C>T	ENSP00000329904:p.Arg114Cys					IQCF2_ENST00000429548.1_3'UTR	p.R114C	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	369	+			114			IQ 2.			Missense_Mutation	SNP	ENST00000333127.3	37	c.340C>T	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525503	0.44969	2.27E-4	0.0	ENSG00000184345	ENST00000333127	T	0.26660	1.72	5.1	4.22	0.49857	.	0.000000	0.56097	D	0.000024	T	0.43433	0.1247	L	0.56769	1.78	0.37177	D	0.903318	D	0.89917	1.0	D	0.74023	0.982	T	0.47407	-0.9120	10	0.39692	T	0.17	-21.5733	11.2594	0.49074	0.1815:0.8185:0.0:0.0	.	114	Q8IXL9	IQCF2_HUMAN	C	114	ENSP00000329904:R114C	ENSP00000329904:R114C	R	+	1	0	IQCF2	51872271	0.662000	0.27439	0.988000	0.46212	0.946000	0.59487	0.768000	0.26590	1.481000	0.48307	0.561000	0.74099	CGT		0.597	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		44	32	0	0	0	1	0	44	32				
IPO13	9670	broad.mit.edu	37	1	44415582	44415582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:44415582G>A	ENST00000372343.3	+	2	1240	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	193					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGCGGACCAGCCTGGCGGTG	0.632																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(577-579)aGc>aAc		importin 13							17.0	19.0	18.0					1																	44415582		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415582G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.578G>A	1.37:g.44415582G>A	ENSP00000361418:p.Ser193Asn						p.S193N	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1240	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	193					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.578G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049264	0.36181	.	.	ENSG00000117408	ENST00000372343	T	0.43294	0.95	5.46	4.48	0.54585	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.308283	0.40554	N	0.001065	T	0.28830	0.0715	N	0.22421	0.69	0.80722	D	1	B	0.25169	0.119	B	0.34652	0.187	T	0.09357	-1.0678	10	0.20046	T	0.44	-6.4112	7.5399	0.27731	0.0:0.121:0.5758:0.3032	.	193	O94829	IPO13_HUMAN	N	193	ENSP00000361418:S193N	ENSP00000361418:S193N	S	+	2	0	IPO13	44188169	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.997000	0.49457	2.583000	0.87209	0.491000	0.48974	AGC		0.632	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		18	13	0	0	0	1	0	18	13				
IGF2R	3482	broad.mit.edu	37	6	160448256	160448256	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:160448256C>A	ENST00000356956.1	+	6	834	c.686C>A	c.(685-687)cCc>cAc	p.P229H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	229					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGGGCCTGTCCCCCCGGCACT	0.552																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(685-687)cCc>cAc		insulin-like growth factor 2 receptor							38.0	38.0	38.0					6																	160448256		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160448256C>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.686C>A	6.37:g.160448256C>A	ENSP00000349437:p.Pro229His						p.P229H	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	6	834	+		Breast(66;0.000777)|Ovarian(120;0.0305)	229					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.686C>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612482	0.87258	.	.	ENSG00000197081	ENST00000356956	T	0.02421	4.3	5.22	5.22	0.72569	Mannose-6-phosphate receptor, binding (1);	0.096039	0.64402	D	0.000001	T	0.15609	0.0376	M	0.92122	3.275	0.35678	D	0.813864	D	0.89917	1.0	D	0.91635	0.999	T	0.10291	-1.0636	10	0.40728	T	0.16	-9.585	19.1446	0.93459	0.0:1.0:0.0:0.0	.	229	P11717	MPRI_HUMAN	H	229	ENSP00000349437:P229H	ENSP00000349437:P229H	P	+	2	0	IGF2R	160368246	1.000000	0.71417	0.013000	0.15412	0.160000	0.22226	5.823000	0.69272	2.577000	0.86979	0.655000	0.94253	CCC		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		26	17	1	0	1.75199e-13	1	1.91688e-13	26	17				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	40	0	0	0	1	0	3	40				
ABCA5	23461	broad.mit.edu	37	17	67280148	67280148	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:67280148T>A	ENST00000392676.3	-	18	2402	c.2338A>T	c.(2338-2340)Act>Tct	p.T780S	ABCA5_ENST00000392677.2_Missense_Mutation_p.T780S|ABCA5_ENST00000588877.1_Missense_Mutation_p.T780S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	780					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCTTCCAAAGTCGTCATGGAA	0.328																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2338-2340)Act>Tct		ATP-binding cassette, sub-family A (ABC1), member 5							89.0	85.0	86.0					17																	67280148		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67280148T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2338A>T	17.37:g.67280148T>A	ENSP00000376443:p.Thr780Ser					ABCA5_ENST00000392677.2_Missense_Mutation_p.T780S|ABCA5_ENST00000588877.1_Missense_Mutation_p.T780S	p.T780S			Q8WWZ7	ABCA5_HUMAN			18	2402	-	Breast(10;3.72e-11)		780					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2338A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	34	5.321001	0.95682	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89415	-2.51;-2.51	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.92688	0.7676	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92244	0.5803	9	.	.	.	.	15.4163	0.74970	0.0:0.0:0.0:1.0	.	780;780	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	780	ENSP00000376444:T780S;ENSP00000376443:T780S	.	T	-	1	0	ABCA5	64791743	1.000000	0.71417	0.936000	0.37596	0.984000	0.73092	7.255000	0.78338	2.119000	0.64992	0.528000	0.53228	ACT		0.328	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		19	34	0	0	0	1	0	19	34				
VSTM2L	128434	broad.mit.edu	37	20	36560079	36560079	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:36560079G>A	ENST00000373461.4	+	2	411	c.164G>A	c.(163-165)gGc>gAc	p.G55D	VSTM2L_ENST00000373458.3_Missense_Mutation_p.G55D|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	55	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCACGGACGGGCGAGGACGTG	0.637																																						ENST00000373461.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8						c.(163-165)gGc>gAc		V-set and transmembrane domain containing 2 like							154.0	139.0	144.0					20																	36560079		2203	4300	6503	SO:0001583	missense	128434							g.chr20:36560079G>A	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.164G>A	20.37:g.36560079G>A	ENSP00000362560:p.Gly55Asp					VSTM2L_ENST00000373458.3_Missense_Mutation_p.G55D|VSTM2L_ENST00000373459.4_Intron	p.G55D	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN			2	411	+		Myeloproliferative disorder(115;0.00878)	55			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.164G>A	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174285	0.94807	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.80566	-1.39;-1.37;-1.39	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102279	0.64402	D	0.000002	D	0.90113	0.6911	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91070	0.4892	10	0.52906	T	0.07	-12.9172	16.8866	0.86077	0.0:0.0:1.0:0.0	.	55	Q96N03	VTM2L_HUMAN	D	55	ENSP00000362557:G55D;ENSP00000362560:G55D;ENSP00000406537:G55D	ENSP00000362557:G55D	G	+	2	0	VSTM2L	35993493	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.643000	0.98464	2.294000	0.77228	0.484000	0.47621	GGC		0.637	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			81	75	0	0	0	1	0	81	75				
OR10R2	343406	broad.mit.edu	37	1	158450293	158450293	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158450293G>T	ENST00000368152.1	+	1	626	c.626G>T	c.(625-627)tGt>tTt	p.C209F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCTGGCTTGTACCAACACA	0.378																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(625-627)tGt>tTt		olfactory receptor, family 10, subfamily R, member 2							167.0	157.0	160.0					1																	158450293		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450293G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.626G>T	1.37:g.158450293G>T	ENSP00000357134:p.Cys209Phe					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.C209F	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	626	+	all_hematologic(112;0.0378)		209					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.626G>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	18.99	3.740028	0.69304	.	.	ENSG00000198965	ENST00000368152	T	0.00460	7.27	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01800	0.0057	H	0.98965	4.385	0.52501	D	0.999951	D	0.63046	0.992	D	0.65010	0.931	T	0.01706	-1.1291	9	0.87932	D	0	.	15.8479	0.78905	0.0:0.0:1.0:0.0	.	209	Q8NGX6	O10R2_HUMAN	F	209	ENSP00000357134:C209F	ENSP00000357134:C209F	C	+	2	0	OR10R2	156716917	0.998000	0.40836	0.894000	0.35097	0.726000	0.41606	3.651000	0.54431	2.219000	0.72066	0.655000	0.94253	TGT		0.378	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		88	141	1	0	2.0191e-50	1	2.26236e-50	88	141				
TMTC2	160335	broad.mit.edu	37	12	83526152	83526152	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:83526152A>G	ENST00000321196.3	+	12	3202	c.2495A>G	c.(2494-2496)aAg>aGg	p.K832R	TMTC2_ENST00000549919.1_Missense_Mutation_p.K826R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	832					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGGCTTAAAGACTTCTAAG	0.502																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2476-2478)aAg>aGg		transmembrane and tetratricopeptide repeat containing 2							79.0	64.0	69.0					12																	83526152		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83526152A>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2495A>G	12.37:g.83526152A>G	ENSP00000322300:p.Lys832Arg					TMTC2_ENST00000321196.3_Missense_Mutation_p.K832R	p.K826R			Q8N394	TMTC2_HUMAN			13	4282	+			832					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2477A>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	6.145	0.394913	0.11638	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.50548	0.85;0.74	5.33	5.33	0.75918	.	0.050141	0.85682	D	0.000000	T	0.27798	0.0684	N	0.08118	0	0.44652	D	0.99763	B	0.02656	0.0	B	0.04013	0.001	T	0.10590	-1.0623	10	0.16896	T	0.51	-14.1854	14.4782	0.67562	1.0:0.0:0.0:0.0	.	832	Q8N394	TMTC2_HUMAN	R	832;826;587	ENSP00000322300:K832R;ENSP00000447609:K826R	ENSP00000322300:K832R	K	+	2	0	TMTC2	82050283	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.010000	0.57117	2.032000	0.59987	0.533000	0.62120	AAG		0.502	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		6	32	0	0	0	1	0	6	32				
COL6A3	1293	broad.mit.edu	37	2	238289918	238289918	+	Missense_Mutation	SNP	G	G	A	rs369379463		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:238289918G>A	ENST00000295550.4	-	5	1989	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATTTTCCGCACAGCGGTT	0.527																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1537-1539)Cgg>Tgg		collagen, type VI, alpha 3							99.0	109.0	106.0					2																	238289918		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289918G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1537C>T	2.37:g.238289918G>A	ENSP00000295550:p.Arg513Trp					COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W	p.R513W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1989	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	513			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1537C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357464	0.41801	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.5	2.51	0.30379	von Willebrand factor, type A (3);	0.130904	0.32459	N	0.006071	T	0.67608	0.2911	M	0.88181	2.935	0.18873	N	0.999986	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.965;0.995;0.93;0.992;0.988;0.965	T	0.63892	-0.6534	10	0.87932	D	0	.	13.631	0.62196	0.0:0.0:0.3563:0.6437	.	513;106;106;307;307;513	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	W	513;312;307;106;307;513;307;106;513	ENSP00000295550:R513W;ENSP00000315609:R312W;ENSP00000315873:R307W;ENSP00000418285:R106W;ENSP00000386844:R307W;ENSP00000295546:R513W;ENSP00000375861:R307W;ENSP00000375860:R106W;ENSP00000389539:R513W	ENSP00000295550:R513W	R	-	1	2	COL6A3	237954657	0.000000	0.05858	0.438000	0.26821	0.292000	0.27327	0.564000	0.23563	0.654000	0.30846	0.655000	0.94253	CGG		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		113	141	0	0	0	1	0	113	141				
KCNK18	338567	broad.mit.edu	37	10	118969303	118969303	+	Silent	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:118969303A>C	ENST00000334549.1	+	3	648	c.648A>C	c.(646-648)acA>acC	p.T216T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AACTTGGCACATGTCCTTCAC	0.527																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(646-648)acA>acC		potassium channel, subfamily K, member 18							79.0	80.0	79.0					10																	118969303		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118969303A>C	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.648A>C	10.37:g.118969303A>C							p.T216T	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	648	+		Colorectal(252;0.19)	216					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.648A>C	CCDS7598.1																																																																																				0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		32	14	0	0	0	1	0	32	14				
CHRNA4	1137	broad.mit.edu	37	20	61981166	61981166	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:61981166A>G	ENST00000370263.4	-	5	1818	c.1597T>C	c.(1597-1599)Tgc>Cgc	p.C533R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	533					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCCTTCTTGCATGTGCATTTG	0.711																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1597-1599)Tgc>Cgc		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						34.0	34.0	34.0					20																	61981166		2199	4299	6498	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981166A>G		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1597T>C	20.37:g.61981166A>G	ENSP00000359285:p.Cys533Arg					CHRNA4_ENST00000463705.1_5'UTR	p.C533R	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1818	-	all_cancers(38;1.71e-10)		533					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1597T>C	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	A	9.383	1.073436	0.20147	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85702	-2.02	4.72	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	28.374500	0.00166	N	0.000001	D	0.91653	0.7362	M	0.63843	1.955	0.80722	D	1	P;D	0.58970	0.947;0.984	P;P	0.62184	0.491;0.899	T	0.78605	-0.2139	10	0.45353	T	0.12	.	12.759	0.57352	1.0:0.0:0.0:0.0	.	462;533	Q4VAQ5;P43681	.;ACHA4_HUMAN	R	439;533;462	ENSP00000359285:C533R	ENSP00000359280:C439R	C	-	1	0	CHRNA4	61451610	0.383000	0.25156	0.225000	0.23894	0.004000	0.04260	2.051000	0.41307	1.765000	0.52091	0.402000	0.26972	TGC		0.711	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	29	0	0	0	1	0	5	29				
GLYATL1	92292	broad.mit.edu	37	11	58711063	58711063	+	5'UTR	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:58711063A>T	ENST00000317391.4	+	0	222				GLYATL1_ENST00000300079.5_Silent_p.G24G|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tatccccaggagcgcgaagtg	0.438																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(70-72)ggA>ggT		glycine-N-acyltransferase-like 1	Glycine(DB00145)						58.0	54.0	55.0					11																	58711063		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58711063A>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-119A>T	11.37:g.58711063A>T						RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	p.G24G	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			2	122	+			0					A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	c.72A>T	CCDS55768.1																																																																																				0.438	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		11	39	0	0	0	1	0	11	39				
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:141747212G>C	ENST00000389484.3	-	17	3630	c.2659C>G	c.(2659-2661)Cct>Gct	p.P887A	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2659-2661)Cct>Gct		low density lipoprotein receptor-related protein 1B							115.0	107.0	110.0					2																	141747212		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747212G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2659C>G	2.37:g.141747212G>C	ENSP00000374135:p.Pro887Ala	TSP Lung(27;0.18)					p.P887A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3630	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	887			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2659C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320393	0.81469	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95035	-3.59	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.92299	0.7557	L	0.35793	1.09	0.51482	D	0.999928	P	0.38745	0.645	B	0.41946	0.371	D	0.89686	0.3894	10	0.17369	T	0.5	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	A	887;825	ENSP00000374135:P887A	ENSP00000374135:P887A	P	-	1	0	LRP1B	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	58	0	0	0	1	0	35	58				
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:71949087C>A	ENST00000298229.2	+	27	3758	c.3554C>A	c.(3553-3555)gCt>gAt	p.A1185D	INPPL1_ENST00000541756.1_Splice_Site_p.A943D|INPPL1_ENST00000538751.1_Splice_Site_p.A943D|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A1185D(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTAGGCTCCGTGCCTG	0.657											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298229.2																			2	Substitution - Missense(2)	p.A1185D(2)	urinary_tract(1)|prostate(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e27-1		inositol polyphosphate phosphatase-like 1							15.0	17.0	17.0					11																	71949087		2197	4291	6488	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949087C>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3553-1C>A	11.37:g.71949087C>A			OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_ENST00000541756.1_Splice_Site_p.A943_splice|INPPL1_ENST00000538751.1_Splice_Site_p.A943_splice	p.A1185_splice	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			27	3758	+			1185					B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	37	c.3552_splice	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.01|12.01	1.810120|1.810120	0.32053|0.32053	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751|ENST00000320683	D;D;D|.	0.96716|.	-2.99;-4.1;-4.1|.	4.69|4.69	2.76|2.76	0.32466|0.32466	.|.	0.083463|.	0.47093|.	D|.	0.000259|.	T|T	0.34600|0.34600	0.0903|0.0903	N|N	0.14661|0.14661	0.345|0.345	0.36357|0.36357	D|D	0.860441|0.860441	P|.	0.44090|.	0.826|.	B|.	0.38655|.	0.278|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.44086|.	T|.	0.13|.	.|.	7.041|7.041	0.25021|0.25021	0.0:0.6953:0.1561:0.1486|0.0:0.6953:0.1561:0.1486	.|.	1185|.	O15357|.	SHIP2_HUMAN|.	D|I	1185;943;943|47	ENSP00000298229:A1185D;ENSP00000446360:A943D;ENSP00000444619:A943D|.	ENSP00000298229:A1185D|.	A|L	+|+	2|1	0|0	INPPL1|INPPL1	71626735|71626735	0.671000|0.671000	0.27521|0.27521	1.000000|1.000000	0.80357|0.80357	0.421000|0.421000	0.31385|0.31385	1.197000|1.197000	0.32211|0.32211	1.184000|1.184000	0.42957|0.42957	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.657	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Missense_Mutation	5	13	1	0	0.000602214	1	0.00061545	5	13				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	20	0	0	0	1	0	5	20				
MMP1	4312	broad.mit.edu	37	11	102666018	102666018	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:102666018A>T	ENST00000315274.6	-	6	853	c.786T>A	c.(784-786)cgT>cgA	p.R262R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	262	Metalloprotease.		R -> S (in dbSNP:rs12282811).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATTTTGGGAACGTCCTAAGG	0.418																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(784-786)cgT>cgA		matrix metallopeptidase 1 (interstitial collagenase)							95.0	84.0	88.0					11																	102666018		2203	4299	6502	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102666018A>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.786T>A	11.37:g.102666018A>T						WTAPP1_ENST00000525739.2_RNA	p.R262R	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	853	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	262		R -> S (in dbSNP:rs12282811).	Metalloprotease.		P08156	Silent	SNP	ENST00000315274.6	37	c.786T>A	CCDS8322.1																																																																																				0.418	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		33	22	0	0	0	1	0	33	22				
KIT	3815	broad.mit.edu	37	4	55593606	55593606	+	Missense_Mutation	SNP	A	A	G	rs121913511|rs121913234|rs121913510		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:55593606A>G	ENST00000288135.5	+	11	1769	c.1672A>G	c.(1672-1674)Aag>Gag	p.K558E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	558			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.K558_V560del(5)|p.Y553_K558del(4)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.K558_E562del(3)|p.V555_K558del(3)|p.V555_I571del(3)|p.M552_W557del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K558_N564del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.K550_V559del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.K558*(1)|p.Q556_D572del(1)|p.K558_G565del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_D572del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTACAGTGGAAGGTTGTTGA	0.383		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		317	Deletion - In frame(235)|Complex - deletion inframe(66)|Complex - compound substitution(8)|Complex - insertion inframe(3)|Deletion - Frameshift(2)|Substitution - Missense(2)|Substitution - Nonsense(1)	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.K558_V560del(5)|p.Y553_K558del(4)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.K558_E562del(3)|p.V555_K558del(3)|p.V555_I571del(3)|p.M552_W557del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K558_N564del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.K550_V559del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.K558*(1)|p.Q556_D572del(1)|p.K558_G565del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_D572del(1)	soft_tissue(311)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|salivary_gland(1)|testis(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1672-1674)Aag>Gag		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	82.0	82.0					4																	55593606		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55593606A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1672A>G	4.37:g.55593606A>G	ENSP00000288135:p.Lys558Glu						p.K558E	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	11	1769	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		558		Missing (in GIST; somatic mutation).			B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1672A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958547	0.92726	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95690	-3.78;-3.78	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	D	0.97974	0.9333	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.975;1.0;0.998	D	0.98792	1.0736	10	0.87932	D	0	.	16.6003	0.84812	1.0:0.0:0.0:0.0	.	65;554;558	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	E	558;554	ENSP00000288135:K558E;ENSP00000390987:K554E	ENSP00000288135:K558E	K	+	1	0	KIT	55288363	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.150000	0.94667	2.319000	0.78375	0.533000	0.62120	AAG		0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			47	280	0	0	0	1	0	47	280				
AFF4	27125	broad.mit.edu	37	5	132216761	132216761	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:132216761A>T	ENST00000265343.5	-	21	3861	c.3482T>A	c.(3481-3483)tTg>tAg	p.L1161*		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1161					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAGATATCAACTTGGCATC	0.458																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(3481-3483)tTg>tAg		AF4/FMR2 family, member 4							110.0	99.0	103.0					5																	132216761		2203	4300	6503	SO:0001587	stop_gained	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132216761A>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3482T>A	5.37:g.132216761A>T	ENSP00000265343:p.Leu1161*						p.L1161*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3861	-		all_cancers(142;0.145)|Breast(839;0.198)	1161					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Nonsense_Mutation	SNP	ENST00000265343.5	37	c.3482T>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	43	10.045128	0.99324	.	.	ENSG00000072364	ENST00000265343	.	.	.	6.03	4.89	0.63831	.	0.354674	0.25948	N	0.027266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9581	11.6257	0.51145	0.9314:0.0:0.0686:0.0	.	.	.	.	X	1161	.	ENSP00000265343:L1161X	L	-	2	0	AFF4	132244660	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.179000	0.65043	2.313000	0.78055	0.455000	0.32223	TTG		0.458	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		55	68	0	0	0	1	0	55	68				
OLFML2A	169611	broad.mit.edu	37	9	127563860	127563860	+	Silent	SNP	C	C	T	rs374490177		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:127563860C>T	ENST00000373580.3	+	5	837	c.837C>T	c.(835-837)cgC>cgT	p.R279R	OLFML2A_ENST00000288815.5_Silent_p.R65R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	279					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAAGCCCCGCGCCCTGGCCC	0.632																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(835-837)cgC>cgT		olfactomedin-like 2A		C		0,4406		0,0,2203	38.0	39.0	39.0		837	-4.3	0.8	9		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OLFML2A	NM_182487.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		279/653	127563860	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127563860C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.837C>T	9.37:g.127563860C>T						OLFML2A_ENST00000288815.5_Silent_p.R65R	p.R279R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			5	837	+			279					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.837C>T	CCDS6857.2																																																																																				0.632	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		8	22	0	0	0	1	0	8	22				
IGHG4	3503	broad.mit.edu	37	14	106092170	106092170	+	RNA	SNP	C	C	T	rs587769931	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:106092170C>T	ENST00000390543.2	-	0	233							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGTAGGTCTTCGTGCCCAAGC	0.612													N|||	6	0.00119808	0.0	0.0	5008	,	,		23760	0.0		0.0	False		,,,				2504	0.0061					ENST00000390543.2																			0																				191.0	225.0	213.0					14																	106092170		2113	4251	6364			0							g.chr14:106092170C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092170C>T														0	233	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.612	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		66	23	0	0	0	1	0	66	23				
BRAT1	221927	broad.mit.edu	37	7	2582924	2582924	+	Silent	SNP	C	C	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:2582924C>G	ENST00000340611.4	-	6	1093	c.837G>C	c.(835-837)ctG>ctC	p.L279L	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	279					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTGTCTCCCACAGGCTGCCGT	0.612																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(835-837)ctG>ctC		BRCA1-associated ATM activator 1							40.0	46.0	44.0					7																	2582924		2203	4300	6503	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582924C>G	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.837G>C	7.37:g.2582924C>G							p.L279L	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			6	1093	-			279					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.837G>C	CCDS5334.1																																																																																				0.612	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		25	49	0	0	0	1	0	25	49				
TMCO4	255104	broad.mit.edu	37	1	20072024	20072024	+	Splice_Site	SNP	C	C	T	rs145825608		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:20072024C>T	ENST00000294543.6	-	10	1119		c.e10+1		TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Splice_Site	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4							integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGTCCTCACGGTATTTGCC	0.612																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.e10+1		transmembrane and coiled-coil domains 4							94.0	97.0	96.0					1																	20072024		2203	4300	6503	SO:0001630	splice_region_variant	255104					integral to membrane		g.chr1:20072024C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.877+1G>A	1.37:g.20072024C>T						TMCO4_ENST00000375127.1_Splice_Site|TMCO4_ENST00000375122.2_Intron		NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	10	1119	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)						Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Splice_Site	SNP	ENST00000294543.6	37		CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701406	0.48307	.	.	ENSG00000162542	ENST00000294543;ENST00000375127	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5637	0.76273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMCO4	19944611	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.072000	0.76777	2.331000	0.79229	0.455000	0.32223	.		0.612	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719	Intron	31	104	0	0	0	1	0	31	104				
OR1N2	138882	broad.mit.edu	37	9	125316117	125316117	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:125316117C>A	ENST00000373688.2	+	1	727	c.669C>A	c.(667-669)ttC>ttA	p.F223L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGCTGTTCCTCACTGTTC	0.502																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(667-669)ttC>ttA		olfactory receptor, family 1, subfamily N, member 2							280.0	256.0	264.0					9																	125316117		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316117C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.669C>A	9.37:g.125316117C>A	ENSP00000362792:p.Phe223Leu						p.F223L	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	727	+			223					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.669C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105024	0.01828	.	.	ENSG00000171501	ENST00000373688	T	0.00021	9.02	4.56	0.0872	0.14449	GPCR, rhodopsin-like superfamily (1);	2.423600	0.02512	N	0.091614	T	0.00039	0.0001	N	0.01631	-0.79	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36040	-0.9764	10	0.02654	T	1	.	0.1324	0.00075	0.3054:0.2338:0.1504:0.3104	.	223	Q8NGR9	OR1N2_HUMAN	L	223	ENSP00000362792:F223L	ENSP00000362792:F223L	F	+	3	2	OR1N2	124355938	0.000000	0.05858	0.001000	0.08648	0.313000	0.28021	-4.305000	0.00256	-0.149000	0.11215	0.644000	0.83932	TTC		0.502	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			32	55	1	0	2.85442e-18	1	3.16025e-18	32	55				
RYR2	6262	broad.mit.edu	37	1	237758859	237758859	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:237758859C>T	ENST00000366574.2	+	34	4815	c.4498C>T	c.(4498-4500)Cgc>Tgc	p.R1500C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1484C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1498C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1500	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGGCAAGGACGCAACAATAA	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4498-4500)Cgc>Tgc		ryanodine receptor 2 (cardiac)							92.0	100.0	98.0					1																	237758859		2104	4227	6331	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237758859C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4498C>T	1.37:g.237758859C>T	ENSP00000355533:p.Arg1500Cys					RYR2_ENST00000360064.6_Missense_Mutation_p.R1498C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1484C	p.R1500C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4815	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1500			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4498C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064015	0.76187	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97138	-4.26;-4.22;-4.25	5.52	5.52	0.82312	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000011	D	0.96883	0.8982	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.97722	1.0197	10	0.56958	D	0.05	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	1500	Q92736	RYR2_HUMAN	C	1500;1498;1484	ENSP00000355533:R1500C;ENSP00000353174:R1498C;ENSP00000443798:R1484C	ENSP00000353174:R1498C	R	+	1	0	RYR2	235825482	0.993000	0.37304	0.984000	0.44739	0.995000	0.86356	3.134000	0.50538	2.598000	0.87819	0.655000	0.94253	CGC		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		21	27	0	0	0	1	0	21	27				
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1624-1626)Gta>Ata		centrosome and spindle pole associated protein 1							71.0	65.0	67.0					8																	68030998		1838	4077	5915	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68030998G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1624G>A	8.37:g.68030998G>A	ENSP00000262210:p.Val542Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	p.V542I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		13	1655	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	577					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1624G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	CSPP1	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA		0.308	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		3	82	0	0	0	1	0	3	82				
LAPTM5	7805	broad.mit.edu	37	1	31211793	31211793	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:31211793G>T	ENST00000294507.3	-	5	578	c.504C>A	c.(502-504)aaC>aaA	p.N168K	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	168					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCATGTGGTTCATGGACT	0.552																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(502-504)aaC>aaA		lysosomal protein transmembrane 5							66.0	52.0	56.0					1																	31211793		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31211793G>T	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.504C>A	1.37:g.31211793G>T	ENSP00000294507:p.Asn168Lys						p.N168K	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	5	578	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	168					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.504C>A	CCDS337.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426759	0.83667	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.46819	0.86	5.73	5.73	0.89815	.	0.060903	0.64402	D	0.000003	T	0.59169	0.2174	M	0.72118	2.19	0.44555	D	0.997511	P	0.49358	0.923	P	0.51550	0.673	T	0.58781	-0.7576	10	0.42905	T	0.14	-53.4095	15.3854	0.74695	0.0:0.0:1.0:0.0	.	168	Q13571	LAPM5_HUMAN	K	168	ENSP00000294507:N168K	ENSP00000294507:N168K	N	-	3	2	LAPTM5	30984380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.827000	0.48112	2.701000	0.92244	0.655000	0.94253	AAC		0.552	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		7	15	1	0	2.7689e-08	1	2.95985e-08	7	15				
DAAM2	23500	broad.mit.edu	37	6	39828775	39828775	+	Silent	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:39828775C>A	ENST00000398904.2	+	3	422	c.240C>A	c.(238-240)atC>atA	p.I80I	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000538976.1_Silent_p.I80I|DAAM2_ENST00000274867.4_Silent_p.I80I|DAAM2_ENST00000405961.3_Silent_p.I80I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	80	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AATGGCAGATCTACTGCAGCA	0.498																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(238-240)atC>atA		dishevelled associated activator of morphogenesis 2							100.0	92.0	94.0					6																	39828775		1960	4143	6103	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39828775C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.240C>A	6.37:g.39828775C>A						DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Silent_p.I80I|DAAM2_ENST00000274867.4_Silent_p.I80I|DAAM2_ENST00000398904.2_Silent_p.I80I	p.I80I	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			3	422	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		80			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.240C>A	CCDS56426.1																																																																																				0.498	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	17	1	0	5.18039e-06	1	5.41322e-06	6	17				
CST4	1472	broad.mit.edu	37	20	23669471	23669471	+	Missense_Mutation	SNP	G	G	A	rs138934020		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:23669471G>A	ENST00000217423.3	-	1	206	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	46					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGAAGGGCACGCTGTACCCAC	0.592																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(136-138)Cgt>Tgt		cystatin S		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	124.0	131.0		136	-0.7	0.0	20	dbSNP_134	131	0,8600		0,0,4300	no	missense	CST4	NM_001899.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	46/142	23669471	1,13005	2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669471G>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.136C>T	20.37:g.23669471G>A	ENSP00000217423:p.Arg46Cys						p.R46C	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			1	206	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		46					Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.136C>T	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672146	0.14776	2.27E-4	0.0	ENSG00000101441	ENST00000217423	T	0.27104	1.69	2.03	-0.725	0.11174	Proteinase inhibitor I25, cystatin (2);	0.983219	0.08314	N	0.964994	T	0.19725	0.0474	L	0.46885	1.475	0.09310	N	1	B	0.24882	0.113	B	0.20577	0.03	T	0.31613	-0.9937	10	0.59425	D	0.04	.	3.6923	0.08351	0.0:0.259:0.4456:0.2954	.	46	P01036	CYTS_HUMAN	C	46	ENSP00000217423:R46C	ENSP00000217423:R46C	R	-	1	0	CST4	23617471	0.098000	0.21812	0.009000	0.14445	0.006000	0.05464	-0.018000	0.12568	-0.348000	0.08286	0.436000	0.28706	CGT		0.592	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		58	34	0	0	0	1	0	58	34				
EXOG	9941	broad.mit.edu	37	3	38565450	38565450	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:38565450G>A	ENST00000287675.5	+	6	800	c.704G>A	c.(703-705)cGc>cAc	p.R235H	EXOG_ENST00000422077.2_Missense_Mutation_p.R185H|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	235					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATCCTGGCCCGCAGAAGCTCA	0.507																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(703-705)cGc>cAc		endo/exonuclease (5'-3'), endonuclease G-like							65.0	67.0	66.0					3																	38565450		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38565450G>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.704G>A	3.37:g.38565450G>A	ENSP00000287675:p.Arg235His					EXOG_ENST00000422077.2_Missense_Mutation_p.R185H|EXOG_ENST00000358249.2_Intron	p.R235H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			6	800	+			235					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.704G>A	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676407	0.88445	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.67171	-0.25;-0.25	5.54	5.54	0.83059	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.064498	0.64402	D	0.000007	T	0.78799	0.4340	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71656	0.938;0.974	T	0.78357	-0.2235	10	0.59425	D	0.04	-11.6264	19.6787	0.95950	0.0:0.0:1.0:0.0	.	185;235	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	H	235;185	ENSP00000287675:R235H;ENSP00000404305:R185H	ENSP00000287675:R235H	R	+	2	0	EXOG	38540454	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.523000	0.53488	2.884000	0.98904	0.655000	0.94253	CGC		0.507	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		4	81	0	0	0	1	0	4	81				
TUBB6	84617	broad.mit.edu	37	18	12311033	12311033	+	Silent	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr18:12311033G>T	ENST00000317702.5	+	3	492	c.258G>T	c.(256-258)cgG>cgT	p.R86R	TUBB6_ENST00000591909.1_Silent_p.R86R|TUBB6_ENST00000592683.1_Silent_p.R86R|TUBB6_ENST00000586653.1_Silent_p.R86R|TUBB6_ENST00000591208.1_Silent_p.R86R|TUBB6_ENST00000590967.1_Silent_p.R86R			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	86					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		AGCTTTTCCGGCCTGACAACT	0.458																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(256-258)cgG>cgT		tubulin, beta 6 class V							98.0	88.0	92.0					18																	12311033		2203	4300	6503	SO:0001819	synonymous_variant	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12311033G>T	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.258G>T	18.37:g.12311033G>T						TUBB6_ENST00000591909.1_Silent_p.R86R|TUBB6_ENST00000592683.1_Silent_p.R86R|TUBB6_ENST00000591208.1_Silent_p.R86R|TUBB6_ENST00000586653.1_Silent_p.R86R|TUBB6_ENST00000590967.1_Silent_p.R86R	p.R86R			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	3	492	+			86					B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	c.258G>T	CCDS11858.1																																																																																				0.458	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		6	25	1	0	0.000157383	1	0.000162629	6	25				
MUCL1	118430	broad.mit.edu	37	12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T	rs201140321	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20684	0.0		0.0	False		,,,				2504	0.0					ENST00000308796.6																			0				breast(1)|kidney(1)|lung(1)	3						c.(64-66)cCg>cTg		mucin-like 1							86.0	78.0	81.0					12																	55248906		2203	4300	6503	SO:0001583	missense	118430					extracellular region|membrane		g.chr12:55248906C>T	AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"""small breast epithelial mucin"""	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.65C>T	12.37:g.55248906C>T	ENSP00000311364:p.Pro22Leu					MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L	p.P22L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN			2	111	+			22					Q0VG95|Q32ZB5	Missense_Mutation	SNP	ENST00000308796.6	37	c.65C>T	CCDS8885.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.204	-0.631536	0.03584	.	.	ENSG00000172551	ENST00000546809;ENST00000308796	.	.	.	0.942	-0.0331	0.13902	.	0.700839	0.09764	U	0.758865	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.31040	0.305	B	0.15484	0.013	T	0.19745	-1.0296	8	0.87932	D	0	.	3.2937	0.06958	0.0:0.6876:0.0:0.3124	.	22	Q96DR8	MUCL1_HUMAN	L	17;22	.	ENSP00000311364:P22L	P	+	2	0	MUCL1	53535173	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.096000	0.01349	-0.038000	0.13624	0.561000	0.74099	CCG		0.418	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406062.1	NM_058173		16	26	0	0	0	1	0	16	26				
OR6Y1	391112	broad.mit.edu	37	1	158517709	158517709	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158517709G>C	ENST00000302617.3	-	1	186	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGTACATGGGCTTATGCAGC	0.473																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(187-189)Ccc>Gcc		olfactory receptor, family 6, subfamily Y, member 1							76.0	71.0	72.0					1																	158517709		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517709G>C	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.187C>G	1.37:g.158517709G>C	ENSP00000304807:p.Pro63Ala						p.P63A	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	186	-	all_hematologic(112;0.0378)		63					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.187C>G	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801534	0.70682	.	.	ENSG00000197532	ENST00000302617	T	0.02015	4.5	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000801	T	0.13841	0.0335	M	0.93978	3.48	0.45172	D	0.998187	D	0.89917	1.0	D	0.87578	0.998	T	0.02144	-1.1206	10	0.72032	D	0.01	.	17.3869	0.87418	0.0:0.0:1.0:0.0	.	63	Q8NGX8	OR6Y1_HUMAN	A	63	ENSP00000304807:P63A	ENSP00000304807:P63A	P	-	1	0	OR6Y1	156784333	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.571000	0.82399	2.695000	0.91970	0.563000	0.77884	CCC		0.473	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		3	61	0	0	0	1	0	3	61				
ZPBP	11055	broad.mit.edu	37	7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353																																						ENST00000046087.2																			1	Substitution - Missense(1)	p.G292S(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(874-876)Ggt>Agt		zona pellucida binding protein							80.0	78.0	79.0					7																	50023025		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50023025C>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.874G>A	7.37:g.50023025C>T	ENSP00000046087:p.Gly292Ser					ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	p.G292S	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			7	943	-	Glioma(55;0.08)|all_neural(89;0.245)		292					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.874G>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894148	0.72639	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.55234	0.53;0.53	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000010	T	0.69405	0.3107	M	0.70595	2.14	0.44201	D	0.997022	D;D	0.63880	0.993;0.993	P;P	0.61070	0.883;0.883	T	0.68477	-0.5398	9	.	.	.	-16.4978	17.6372	0.88125	0.0:1.0:0.0:0.0	.	291;292	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	S	292;291	ENSP00000046087:G292S;ENSP00000402071:G291S	.	G	-	1	0	ZPBP	49993571	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.346000	0.52190	2.686000	0.91538	0.573000	0.79308	GGT		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		35	76	0	0	0	1	0	35	76				
LOC154761	154761	broad.mit.edu	37	7	143510077	143510077	+	RNA	SNP	C	C	T	rs533075380	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:143510077C>T	ENST00000494978.1	-	0	1501					NR_015421.1																						GCTGCCACACCGATGACCTTA	0.547													c|||	4	0.000798722	0.0	0.0	5008	,	,		25652	0.0		0.0	False		,,,				2504	0.0041					ENST00000494978.1																			0																																																			0							g.chr7:143510077C>T																													7.37:g.143510077C>T								NR_015421.1						0	1501	-									RNA	SNP	ENST00000494978.1	37																																																																																						0.547	RP11-61L23.2-003	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000349573.1			32	117	0	0	0	1	0	32	117				
SNTG2	54221	broad.mit.edu	37	2	1204826	1204826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:1204826C>T	ENST00000308624.5	+	9	758	c.629C>T	c.(628-630)cCg>cTg	p.P210L	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.P83L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	210					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.P210Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTAAGGACCCGAGGTATGAG	0.567																																						ENST00000308624.5																			1	Substitution - Missense(1)	p.P210Q(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(628-630)cCg>cTg		syntrophin, gamma 2							94.0	103.0	100.0					2																	1204826		2059	4198	6257	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204826C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.629C>T	2.37:g.1204826C>T	ENSP00000311837:p.Pro210Leu					SNTG2_ENST00000407292.1_Missense_Mutation_p.P83L|SNTG2_ENST00000467759.1_3'UTR	p.P210L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	758	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	210					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.629C>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088287	0.55968	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.55052	0.54;0.54	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	L	0.39020	1.185	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.61592	0.891;0.588	T	0.51196	-0.8736	10	0.13853	T	0.58	.	16.1279	0.81406	0.0:1.0:0.0:0.0	.	83;210	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	L	210;83	ENSP00000311837:P210L;ENSP00000385020:P83L	ENSP00000311837:P210L	P	+	2	0	SNTG2	1194826	1.000000	0.71417	0.995000	0.50966	0.787000	0.44495	6.372000	0.73123	1.931000	0.55961	0.453000	0.30009	CCG		0.567	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		31	58	0	0	0	1	0	31	58				
ITGAX	3687	broad.mit.edu	37	16	31391335	31391335	+	Silent	SNP	C	C	T	rs371222071		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:31391335C>T	ENST00000268296.4	+	26	3130	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_ENST00000562522.1_Silent_p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1003					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3007-3009)atC>atT		integrin, alpha X (complement component 3 receptor 4 subunit)		C		0,4394		0,0,2197	53.0	52.0	53.0		3009	-8.2	0.0	16		53	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		1003/1164	31391335	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391335C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3009C>T	16.37:g.31391335C>T						ITGAX_ENST00000562522.1_Silent_p.I1003I	p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			26	3130	+			1003					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.3009C>T	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		30	30	0	0	0	1	0	30	30				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:7578524G>A	ENST00000269305.4	-	5	595	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971503	TP53	M		c.(406-408)Caa>Taa	Other conserved DNA damage response genes	tumor protein p53							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>T	17.37:g.7578524G>A	ENSP00000269305:p.Gln136*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*	p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	538	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.406C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349260	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;136;136;136;136;125;43;4;43;4;136	.	ENSP00000269305:Q136X	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	7	0	0	0	1	0	47	7				
CNGB3	54714	broad.mit.edu	37	8	87683308	87683308	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:87683308A>G	ENST00000320005.5	-	4	404	c.357T>C	c.(355-357)ccT>ccC	p.P119P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	119					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGGAGCTGCAGGCGGTTTGT	0.413																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(355-357)ccT>ccC		cyclic nucleotide gated channel beta 3							160.0	173.0	169.0					8																	87683308		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683308A>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.357T>C	8.37:g.87683308A>G							p.P119P	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			4	404	-			119					C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.357T>C	CCDS6244.1																																																																																				0.413	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		63	138	0	0	0	1	0	63	138				
ITGB2	3689	broad.mit.edu	37	21	46321434	46321434	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:46321434G>A	ENST00000397850.2	-	7	1166	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ITGB2_ENST00000302347.5_Silent_p.D238D|ITGB2_ENST00000397854.3_Silent_p.D181D|ITGB2_ENST00000355153.4_Silent_p.D238D|ITGB2_ENST00000397852.1_Silent_p.D238D|ITGB2_ENST00000397857.1_Silent_p.D238D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	238	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCATCATGGCGTCCAGCCCAC	0.662																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(712-714)gaC>gaT		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						81.0	77.0	78.0					21																	46321434		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46321434G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.714C>T	21.37:g.46321434G>A						ITGB2_ENST00000397854.3_Silent_p.D181D|ITGB2_ENST00000302347.5_Silent_p.D238D|ITGB2_ENST00000355153.4_Silent_p.D238D|ITGB2_ENST00000397857.1_Silent_p.D238D|ITGB2_ENST00000397852.1_Silent_p.D238D	p.D238D			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	7	1166	-			238			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.714C>T	CCDS13716.1																																																																																				0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		15	36	0	0	0	1	0	15	36				
FGF22	27006	broad.mit.edu	37	19	643472	643472	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:643472C>T	ENST00000215530.5	+	3	412	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FGF22_ENST00000166133.3_Silent_p.Y86Y|FGF22_ENST00000586042.2_Missense_Mutation_p.R120C	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	127					cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)				endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACACCTACGCCTCACAGC	0.741																																						ENST00000586042.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(358-360)Cgc>Tgc		fibroblast growth factor 22							22.0	22.0	22.0					19																	643472		2193	4286	6479	SO:0001819	synonymous_variant	27006				cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity	g.chr19:643472C>T		CCDS12037.1, CCDS74241.1	19p13.3	2008-07-04				ENSG00000070388			3679	protein-coding gene	gene with protein product		605831				15260994, 16597617	Standard	NM_020637		Approved		uc010xfq.2	Q9HCT0		ENST00000215530.5:c.381C>T	19.37:g.643472C>T						FGF22_ENST00000166133.3_Silent_p.Y86Y|FGF22_ENST00000215530.5_Silent_p.Y127Y	p.R120C			Q9HCT0	FGF22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	389	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	0					B2RPH4	Missense_Mutation	SNP	ENST00000215530.5	37	c.358C>T	CCDS12037.1																																																																																				0.741	FGF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452103.1			15	11	0	0	0	1	0	15	11				
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965544	33965544	+	RNA	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:33965544G>T	ENST00000363564.1	+	0	119									RNA, 5.8S ribosomal pseudogene 2																		TTGCAGCCCGGGTTCCTCCCA	0.587																																						ENST00000363564.1																			0																				38.0	41.0	40.0					16																	33965544		1568	3582	5150			0							g.chr16:33965544G>T			16p11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000200434	ENSG00000200434			41956	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 2"""	RN5-8S2			Standard	NG_033434		Approved						16.37:g.33965544G>T														0	119	+									RNA	SNP	ENST00000363564.1	37																																																																																						0.587	RNA5-8SP2-201	KNOWN	basic	rRNA	rRNA				14	27	1	0	4.7546e-09	1	5.14161e-09	14	27				
MRGPRX1	259249	broad.mit.edu	37	11	18955787	18955787	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:18955787G>A	ENST00000302797.3	-	1	769	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	182					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATCAGCCACGCGACTGTGAT	0.522																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(544-546)gCg>gTg		MAS-related GPR, member X1							134.0	113.0	120.0					11																	18955787		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955787G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.545C>T	11.37:g.18955787G>A	ENSP00000305766:p.Ala182Val					MRGPRX1_ENST00000526914.1_5'UTR	p.A182V	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	769	-			182					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.545C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.318205	0.23994	.	.	ENSG00000170255	ENST00000302797	T	0.33865	1.39	2.28	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	1.195960	0.05934	N	0.635713	T	0.22781	0.0550	N	0.26162	0.8	0.09310	N	1	P	0.39940	0.696	B	0.37198	0.243	T	0.15665	-1.0429	10	0.15499	T	0.54	.	6.0716	0.19893	0.2089:0.0:0.7911:0.0	.	182	Q96LB2	MRGX1_HUMAN	V	182	ENSP00000305766:A182V	ENSP00000305766:A182V	A	-	2	0	MRGPRX1	18912363	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.892000	0.01610	0.409000	0.25649	0.491000	0.48974	GCG		0.522	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		47	23	0	0	0	1	0	47	23				
GSTA2	2939	broad.mit.edu	37	6	52616422	52616422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:52616422C>T	ENST00000493422.1	-	6	654	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	167	GST C-terminal.				epithelial cell differentiation (GO:0030855)|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)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	AGCTCTTCCACGTAGTAGAGA	0.517																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(499-501)Gtg>Atg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						165.0	143.0	150.0					6																	52616422		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616422C>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.499G>A	6.37:g.52616422C>T	ENSP00000420168:p.Val167Met						p.V167M	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	654	-	Lung NSC(77;0.118)		167			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.499G>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	2.467	-0.322852	0.05350	.	.	ENSG00000244067	ENST00000493422	T	0.02323	4.34	2.88	-0.283	0.12874	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.484707	0.20272	N	0.095634	T	0.00967	0.0032	L	0.56280	1.765	0.09310	N	1	P	0.41393	0.748	B	0.37422	0.249	T	0.47774	-0.9091	10	0.52906	T	0.07	.	3.5629	0.07889	0.0:0.441:0.1972:0.3619	.	167	P09210	GSTA2_HUMAN	M	167	ENSP00000420168:V167M	ENSP00000420168:V167M	V	-	1	0	GSTA2	52724381	0.000000	0.05858	0.040000	0.18447	0.074000	0.17049	-0.214000	0.09292	-0.209000	0.10156	-0.494000	0.04653	GTG		0.517	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		24	80	0	0	0	1	0	24	80				
QRICH2	84074	broad.mit.edu	37	17	74287133	74287133	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:74287133G>A	ENST00000262765.5	-	4	3356	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1059										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTCCAAGTCGGTTTGGCCGG	0.522																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3175-3177)acC>acT		glutamine rich 2							102.0	96.0	98.0					17																	74287133		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74287133G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3177C>T	17.37:g.74287133G>A							p.T1059T	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	3356	-			1059					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.3177C>T	CCDS32741.1																																																																																				0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		49	52	0	0	0	1	0	49	52				
CHPF2	54480	broad.mit.edu	37	7	150932146	150932146	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:150932146C>G	ENST00000035307.2	+	2	1789	c.276C>G	c.(274-276)atC>atG	p.I92M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I84M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCGGTACATCCAGACAGAGC	0.572																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(274-276)atC>atG		chondroitin polymerizing factor 2							70.0	65.0	67.0					7																	150932146		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932146C>G	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.276C>G	7.37:g.150932146C>G	ENSP00000035307:p.Ile92Met					CHPF2_ENST00000495645.1_Missense_Mutation_p.I84M	p.I92M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			2	1789	+			92					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.276C>G	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024457	0.54683	.	.	ENSG00000033100	ENST00000482173;ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.31247	1.5;1.51	5.52	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.73962	2.25	0.52501	D	0.999958	D;D	0.89917	1.0;0.999	D;D	0.83275	0.99;0.996	T	0.50466	-0.8825	10	0.66056	D	0.02	-19.3106	8.911	0.35552	0.2725:0.656:0.0:0.0715	.	92;84	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	21;84;92;92	ENSP00000418914:I84M;ENSP00000035307:I92M	ENSP00000035307:I92M	I	+	3	3	CHPF2	150563079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.975000	0.29449	0.644000	0.30656	0.655000	0.94253	ATC		0.572	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		27	52	0	0	0	1	0	27	52				
TUBB3	10381	broad.mit.edu	37	16	90001621	90001621	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:90001621C>T	ENST00000315491.7	+	4	885	c.762C>T	c.(760-762)gcC>gcT	p.A254A	TUBB3_ENST00000554444.1_Silent_p.A182A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.A601A|TUBB3_ENST00000304984.5_Silent_p.A182A	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	254					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GCAAGCTGGCCGTCAACATGG	0.687																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(544-546)gcC>gcT		tubulin, beta 3 class III							44.0	44.0	44.0					16																	90001621		2198	4300	6498	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001621C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.762C>T	16.37:g.90001621C>T						TUBB3_ENST00000554444.1_Silent_p.A182A|TUBB3_ENST00000556922.1_Silent_p.A601A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Silent_p.A254A	p.A182A			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2841	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	254					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.546C>T	CCDS10988.1																																																																																				0.687	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		32	41	0	0	0	1	0	32	41				
PSAT1	29968	broad.mit.edu	37	9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	rs114496656	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:80923424G>A	ENST00000376588.3	+	6	733	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.R222Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	222					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TTTGCCCTCCGAGAGTGCCCC	0.537													g|||	4	0.000798722	0.003	0.0	5008	,	,		18127	0.0		0.0	False		,,,				2504	0.0				Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(664-666)cGa>cAa		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	G	GLN/ARG,GLN/ARG	9,4397	15.5+/-35.6	0,9,2194	121.0	100.0	107.0		665,665	-3.3	0.0	9	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense	PSAT1	NM_021154.3,NM_058179.2	43,43	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign,benign	222/325,222/371	80923424	9,12997	2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923424G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.665G>A	9.37:g.80923424G>A	ENSP00000365773:p.Arg222Gln					PSAT1_ENST00000347159.2_Missense_Mutation_p.R222Q	p.R222Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			6	733	+			222					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.665G>A	CCDS6660.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.90	2.373859	0.42105	0.002043	0.0	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.63417	-0.04;-0.04	5.72	-3.34	0.04943	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.371143	0.31134	N	0.008196	T	0.34193	0.0889	N	0.20610	0.595	0.20196	N	0.99993	B;B	0.34147	0.438;0.003	B;B	0.23419	0.046;0.002	T	0.22208	-1.0223	10	0.31617	T	0.26	-37.633	8.4313	0.32759	0.6872:0.1282:0.1847:0.0	.	222;222	Q9Y617-2;Q9Y617	.;SERC_HUMAN	Q	46;222;222	ENSP00000317606:R222Q;ENSP00000365773:R222Q	ENSP00000317606:R222Q	R	+	2	0	PSAT1	80113244	0.840000	0.29493	0.010000	0.14722	0.919000	0.55068	2.061000	0.41403	-0.510000	0.06523	-0.145000	0.13849	CGA		0.537	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		23	31	0	0	0	1	0	23	31				
KLK3	354	broad.mit.edu	37	19	51361822	51361822	+	Missense_Mutation	SNP	C	C	T	rs546294568	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:51361822C>T	ENST00000326003.2	+	4	642	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KLK3_ENST00000593997.1_Missense_Mutation_p.R201C|KLK3_ENST00000597483.1_Missense_Mutation_p.R158C|KLK3_ENST00000360617.3_Missense_Mutation_p.R201C|KLK3_ENST00000595952.1_Missense_Mutation_p.R158C	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GTGTGCTGGACGCTGGACAGG	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		22348	0.0		0.0	False		,,,				2504	0.002				Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(601-603)Cgc>Tgc		kallikrein-related peptidase 3							149.0	133.0	139.0					19																	51361822		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361822C>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.601C>T	19.37:g.51361822C>T	ENSP00000314151:p.Arg201Cys					KLK3_ENST00000326003.2_Missense_Mutation_p.R201C|KLK3_ENST00000595952.1_Missense_Mutation_p.R158C|KLK3_ENST00000593997.1_Missense_Mutation_p.R201C|KLK3_ENST00000597483.1_Missense_Mutation_p.R158C	p.R201C			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	4	601	+		all_neural(266;0.057)	201			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.601C>T	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	6.970	0.549018	0.13312	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.88741	-2.42;-2.42	3.11	-2.39	0.06602	.	1.564020	0.04044	N	0.303697	T	0.79417	0.4442	L	0.39245	1.2	0.09310	N	1	P;P;P	0.42735	0.788;0.717;0.749	B;B;B	0.32928	0.155;0.057;0.059	T	0.69235	-0.5198	10	0.42905	T	0.14	.	2.9855	0.05966	0.1581:0.4212:0.3084:0.1123	.	160;201;158	Q8NCW4;G3XAE3;G3V0H4	.;.;.	C	201;158;201;160	ENSP00000314151:R201C;ENSP00000353829:R201C	ENSP00000314151:R201C	R	+	1	0	KLK3	56053634	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.762000	0.01803	-0.629000	0.05575	-2.155000	0.00331	CGC		0.532	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		21	70	0	0	0	1	0	21	70				
CCL1	6346	broad.mit.edu	37	17	32687613	32687613	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:32687613T>C	ENST00000225842.3	-	3	325	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	86					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CTCAGCATTTTTCTGTGCCTC	0.502																																						ENST00000225842.3																			0											c.(256-258)Aaa>Gaa		chemokine (C-C motif) ligand 1							138.0	127.0	131.0					17																	32687613		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32687613T>C	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.256A>G	17.37:g.32687613T>C	ENSP00000225842:p.Lys86Glu						p.K86E	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	3	325	-		Ovarian(249;0.0443)|Breast(31;0.133)	86					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.256A>G	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873112	0.51695	.	.	ENSG00000108702	ENST00000225842	T	0.06449	3.3	4.38	-3.51	0.04696	Chemokine interleukin-8-like domain (3);	4.703080	0.00166	N	0.000001	T	0.04907	0.0132	.	.	.	0.09310	N	1	B	0.34349	0.45	B	0.30251	0.113	T	0.32666	-0.9898	9	0.48119	T	0.1	-5.0E-4	6.1833	0.20484	0.0:0.2655:0.4727:0.2618	.	86	P22362	CCL1_HUMAN	E	86	ENSP00000225842:K86E	ENSP00000225842:K86E	K	-	1	0	CCL1	29711726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.042000	0.03539	-0.748000	0.04753	-1.255000	0.01485	AAA		0.502	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		4	153	0	0	0	1	0	4	153				
CYLC1	1538	broad.mit.edu	37	X	83129602	83129602	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:83129602T>C	ENST00000329312.4	+	4	1923	c.1886T>C	c.(1885-1887)aTg>aCg	p.M629T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	629	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGGTGCAAGATGCCTCCTCCA	0.408																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1885-1887)aTg>aCg		cylicin, basic protein of sperm head cytoskeleton 1							71.0	60.0	64.0					X																	83129602		2203	4298	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129602T>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1886T>C	X.37:g.83129602T>C	ENSP00000331556:p.Met629Thr						p.M629T	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1923	+			629			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1886T>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	0.807	-0.753423	0.03041	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.43688	0.94	3.48	-0.52	0.11935	.	.	.	.	.	T	0.24509	0.0594	L	0.32530	0.975	0.09310	N	1	B;B	0.28470	0.034;0.213	B;B	0.28139	0.057;0.086	T	0.22208	-1.0223	9	0.20046	T	0.44	1.123	2.5815	0.04819	0.4455:0.1329:0.0:0.4216	.	629;629	P35663;F5H4V5	CYLC1_HUMAN;.	T	629	ENSP00000331556:M629T	ENSP00000331556:M629T	M	+	2	0	CYLC1	83016258	0.001000	0.12720	0.004000	0.12327	0.256000	0.26092	-0.036000	0.12185	-0.201000	0.10284	0.417000	0.27973	ATG		0.408	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		25	5	0	0	0	1	0	25	5				
DNASE2B	58511	broad.mit.edu	37	1	84880391	84880391	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:84880391G>A	ENST00000370665.3	+	6	959	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	DNASE2B_ENST00000370662.3_Missense_Mutation_p.C101Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	309					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCCAAGTGGTGTATTTCCCAA	0.413																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(925-927)tGt>tAt		deoxyribonuclease II beta							59.0	57.0	58.0					1																	84880391		2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880391G>A	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.926G>A	1.37:g.84880391G>A	ENSP00000359699:p.Cys309Tyr					DNASE2B_ENST00000370662.3_Missense_Mutation_p.C101Y	p.C309Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	959	+			309					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.926G>A	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960337	0.74016	.	.	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.14516	2.5;2.5	5.28	5.28	0.74379	.	0.048200	0.85682	D	0.000000	T	0.34483	0.0899	M	0.87547	2.89	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	T	0.14811	-1.0459	10	0.56958	D	0.05	-16.2819	15.7187	0.77691	0.0:0.1463:0.8537:0.0	.	309	Q8WZ79	DNS2B_HUMAN	Y	309;101	ENSP00000359699:C309Y;ENSP00000359696:C101Y	ENSP00000359696:C101Y	C	+	2	0	DNASE2B	84652979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.855000	0.69510	2.739000	0.93911	0.655000	0.94253	TGT		0.413	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		24	71	0	0	0	1	0	24	71				
ASS1	445	broad.mit.edu	37	9	133355812	133355812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:133355812C>T	ENST00000372394.1	+	12	1295	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ASS1_ENST00000372393.3_Missense_Mutation_p.R272C|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.R272C			P00966	ASSY_HUMAN	argininosuccinate synthase 1	272			R -> C (in CTLN1). {ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:7977368}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGTGGAGAACCGCTTCATTGG	0.607																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17	GRCh37	CM940127	ASS1	M		c.(814-816)Cgc>Tgc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						88.0	71.0	77.0					9																	133355812		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133355812C>T	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.814C>T	9.37:g.133355812C>T	ENSP00000361471:p.Arg272Cys					ASS1_ENST00000372393.3_Missense_Mutation_p.R272C|ASS1_ENST00000352480.5_Missense_Mutation_p.R272C|ASS1_ENST00000493984.2_3'UTR	p.R272C			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	12	1295	+			272		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.814C>T	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503128	0.64298	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99488	-6.0;-6.0;-6.0;-6.0	4.7	3.72	0.42706	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.99281	0.9749	M	0.92970	3.365	0.80722	D	1	P;D;D;P;P	0.60575	0.786;0.988;0.988;0.786;0.786	B;P;P;B;B	0.49829	0.297;0.623;0.623;0.297;0.297	D	0.98591	1.0654	10	0.87932	D	0	.	12.9782	0.58549	0.1622:0.8378:0.0:0.0	.	272;155;155;272;272	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	C	272;272;272;272;29	ENSP00000253004:R272C;ENSP00000361471:R272C;ENSP00000361469:R272C;ENSP00000361461:R29C	ENSP00000361470:R272C	R	+	1	0	ASS1	132345633	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.403000	0.66338	2.316000	0.78162	0.455000	0.32223	CGC		0.607	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		14	22	0	0	0	1	0	14	22				
HNRNPF	3185	broad.mit.edu	37	10	43882891	43882891	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:43882891C>T	ENST00000544000.1	-	4	849	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	HNRNPF_ENST00000443950.2_Missense_Mutation_p.E148K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Missense_Mutation_p.E148K	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	148	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCTTGCCTTCGGGGTCCACA	0.507																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(442-444)Gaa>Aaa		heterogeneous nuclear ribonucleoprotein F							108.0	102.0	104.0					10																	43882891		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882891C>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.442G>A	10.37:g.43882891C>T	ENSP00000438061:p.Glu148Lys					HNRNPF_ENST00000357065.4_Missense_Mutation_p.E148K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E148K	p.E148K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	928	-			148			RRM 2.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.442G>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138572	0.37728	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	4.17	3.27	0.37495	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053759	0.85682	D	0.000000	T	0.10165	0.0249	N	0.25380	0.74	0.46044	D	0.998835	P	0.37398	0.593	B	0.36464	0.225	T	0.17715	-1.0360	10	0.27785	T	0.31	-24.7377	5.9914	0.19465	0.0:0.704:0.1932:0.1028	.	148	P52597	HNRPF_HUMAN	K	148;148;148;148;148;71	ENSP00000438061:E148K;ENSP00000400433:E148K;ENSP00000348345:E148K;ENSP00000349573:E148K;ENSP00000338477:E148K	ENSP00000338477:E148K	E	-	1	0	HNRNPF	43202897	1.000000	0.71417	0.897000	0.35233	0.952000	0.60782	5.091000	0.64505	1.353000	0.45828	-0.136000	0.14681	GAA		0.507	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			17	49	0	0	0	1	0	17	49				
STAG3L4	64940	broad.mit.edu	37	7	66774605	66774605	+	RNA	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:66774605A>T	ENST00000416602.2	+	0	622					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGTCTGCACGAAGATATCAAT	0.483																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															129.0	138.0	135.0					7																	66774605		2203	4300	6503			0							g.chr7:66774605A>T			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774605A>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	622	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	a	7.258	0.604524	0.14002	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.524	0.524	0.17066	STAG (1);	0.336153	0.25698	N	0.028898	T	0.14874	0.0359	.	.	.	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.33777	-0.9855	7	0.05351	T	0.99	.	5.3623	0.16095	0.9998:0.0:2.0E-4:0.0	.	116	Q8TBR4	STG34_HUMAN	V	116	.	ENSP00000408597:E116V	E	+	2	0	STAG3L4	66412040	0.025000	0.19082	0.347000	0.25668	0.016000	0.09150	-0.066000	0.11598	0.472000	0.27344	0.113000	0.15668	GAA		0.483	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		82	157	0	0	0	1	0	82	157				
OR5H15	403274	broad.mit.edu	37	3	97888411	97888411	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:97888411T>C	ENST00000356526.2	+	1	868	c.868T>C	c.(868-870)Tac>Cac	p.Y290H		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCCTATCATCTACAGTCTGAG	0.333																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(868-870)Tac>Cac		olfactory receptor, family 5, subfamily H, member 15							60.0	65.0	63.0					3																	97888411		2202	4299	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888411T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.868T>C	3.37:g.97888411T>C	ENSP00000373195:p.Tyr290His						p.Y290H	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	868	+			290						Missense_Mutation	SNP	ENST00000356526.2	37	c.868T>C	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	15.47	2.842042	0.51057	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.61859	0.07	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.78059	0.4224	M	0.93854	3.465	0.29038	N	0.885276	D	0.76494	0.999	D	0.73380	0.98	T	0.72388	-0.4309	10	0.87932	D	0	.	8.4982	0.33141	0.0:0.0:0.0:1.0	.	290	A6NDH6	O5H15_HUMAN	H	290	ENSP00000373195:Y290H	ENSP00000373195:Y290H	Y	+	1	0	OR5H15	99371101	1.000000	0.71417	0.505000	0.27651	0.010000	0.07245	6.826000	0.75298	1.138000	0.42230	0.155000	0.16302	TAC		0.333	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	95	0	0	0	1	0	4	95				
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Start_Codon_SNP	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCAGAACAATGCCTCCACG	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.M1V(2)	endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1-3)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							45.0	45.0	45.0					3																	178916614		1872	4093	5965	SO:0001582	initiator_codon_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916614A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1A>G	3.37:g.178916614A>G	ENSP00000263967:p.Met1Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	158	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1					Q14CW1|Q99762	Translation_Start_Site	SNP	ENST00000263967.3	37	c.1A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823904	0.71143	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	T;T	0.73047	-0.61;-0.71	5.37	5.37	0.77165	.	0.040256	0.85682	D	0.000000	T	0.64681	0.2620	.	.	.	0.50171	D	0.99985	B	0.30193	0.272	B	0.24006	0.05	T	0.66826	-0.5825	9	0.87932	D	0	-8.6712	15.3677	0.74535	1.0:0.0:0.0:0.0	.	1	P42336	PK3CA_HUMAN	V	1	ENSP00000263967:M1V;ENSP00000417479:M1V	ENSP00000263967:M1V	M	+	1	0	PIK3CA	180399308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.899000	0.92544	2.027000	0.59764	0.528000	0.53228	ATG		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	33	14	0	0	0	1	0	33	14				
E2F3	1871	broad.mit.edu	37	6	20488347	20488347	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:20488347C>T	ENST00000346618.3	+	6	1069	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	E2F3_ENST00000535432.1_Silent_p.L204L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	335	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCATAGAGCCTACAAATACA	0.373																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1003-1005)Cta>Tta		E2F transcription factor 3							88.0	91.0	90.0					6																	20488347		2203	4300	6503	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20488347C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1003C>T	6.37:g.20488347C>T						E2F3_ENST00000535432.1_Silent_p.L204L	p.L335L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		6	1069	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		335			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.1003C>T	CCDS4545.1																																																																																				0.373	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			13	104	0	0	0	1	0	13	104				
POLR2B	5431	broad.mit.edu	37	4	57871589	57871589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:57871589delA	ENST00000381227.1	+	9	1491	c.1078delA	c.(1078-1080)aaafs	p.K361fs	POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs|POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs|RNU6-998P_ENST00000515894.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	361					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGTGAGACCAAAAAAGCCTA	0.313																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1078-1080)aafs		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							119.0	124.0	122.0					4																	57871589		2203	4300	6503	SO:0001589	frameshift_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57871589delA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1078delA	4.37:g.57871589delA	ENSP00000370625:p.Lys361fs					POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs|POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs	p.K361fs			P30876	RPB2_HUMAN			9	1491	+	Glioma(25;0.08)|all_neural(26;0.181)		361					A8K1A8|Q8IZ61	Frame_Shift_Del	DEL	ENST00000381227.1	37	c.1078delA	CCDS3511.1																																																																																				0.313	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		7	381						7	381	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85556474	85556475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:85556474_85556475insT	ENST00000295887.5	+	8	1203_1204	c.780_781insT	c.(781-783)tttfs	p.F261fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G260G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACCTTTTTGGATTTTTTTTTGG	0.307																																						ENST00000295887.5																			1	Substitution - coding silent(1)	p.G260G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(778-783)ggttttfs		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1																																				SO:0001589	frameshift_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556474_85556475insT	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.789dupT	4.37:g.85556483_85556483dupT	ENSP00000295887:p.Phe261fs						p.GF260fs	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1203_1204	+		Hepatocellular(203;0.114)	260					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Ins	INS	ENST00000295887.5	37	c.780_781insT	CCDS3608.1																																																																																				0.307	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			7	138						7	138	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109680921	109680924	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:109680921_109680924delAACA	ENST00000296486.3	-	3	470_473	c.316_319delTGTT	c.(316-321)tgttatfs	p.CY106fs	ETNPPL_ENST00000411864.2_Frame_Shift_Del_p.CY100fs|ETNPPL_ENST00000512646.1_Frame_Shift_Del_p.CY48fs|ETNPPL_ENST00000510706.1_Frame_Shift_Del_p.CY66fs	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	106						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TTTGTAAAATAACAAACAGAGAGT	0.422																																						ENST00000296486.3																			0											c.(316-321)atfs		ethanolamine-phosphate phospho-lyase			,,	15,4251		7,1,2125					,,	1.3	0.3			69	15,8239		7,1,4119	no	frameshift,frameshift,frameshift	AGXT2L1	NM_031279.3,NM_001146627.1,NM_001146590.1	,,	14,2,6244	A1A1,A1R,RR		0.1817,0.3516,0.2396	,,	,,		30,12490				SO:0001589	frameshift_variant	64850							g.chr4:109680921_109680924delAACA	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.316_319delTGTT	4.37:g.109680925_109680928delAACA	ENSP00000296486:p.Cys106fs					ETNPPL_ENST00000512646.1_Frame_Shift_Del_p.CY48fs|ETNPPL_ENST00000411864.2_Frame_Shift_Del_p.CY100fs|ETNPPL_ENST00000510706.1_Frame_Shift_Del_p.CY66fs	p.CY106fs	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					3	470_473	-								B7Z1Y0|E9PBY0|Q9H174	Frame_Shift_Del	DEL	ENST00000296486.3	37	c.316_319delTGTT	CCDS3682.1																																																																																				0.422	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		24	28						24	28	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1687-1689)ccfs		Rho guanine nucleotide exchange factor (GEF) 25							106.0	119.0	115.0					12																	58010623		2203	4300	6503	SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010623delA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1689delA	12.37:g.58010623delA	ENSP00000286494:p.Pro563fs					ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000444467.1_RNA	p.P563fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2149	+			563					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Del	DEL	ENST00000286494.4	37	c.1689delA	CCDS8947.1																																																																																				0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		9	2871						9	2871	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs577690948|rs200758098|rs35048651	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1033				Missing (in Ref. 1; BAB84937). {ECO:0000305}.	negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695														1061	0.211861	0.115	0.196	5008	,	,		16982	0.1835		0.1948	False		,,,				2504	0.4008					ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3088-3090)del		WD repeat domain 81			,,,	549,3367		98,353,1507					,,,	-11.3	0.0		dbSNP_130	17	1642,6232		262,1118,2557	no	utr-5,intron,coding,intron	WDR81	NM_152348.3,NM_001163811.1,NM_001163809.1,NM_001163673.1	,,,	360,1471,4064	A1A1,A1R,RR		20.8534,14.0194,18.5835	,,,	,,,		2191,9599				SO:0001651	inframe_deletion	124997							g.chr17:1631341_1631343delGAG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3088_3090delGAG	17.37:g.1631350_1631352delGAG	ENSP00000386609:p.Glu1033del					WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA	p.E1033del	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	3088_3090	+			305					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	In_Frame_Del	DEL	ENST00000409644.1	37	c.3088_3090delGAG	CCDS54062.1																																																																																				0.695	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		11	2						11	2	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084238	58084239	+	Frame_Shift_Ins	INS	-	-	A	rs529743529		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:58084238_58084239insA	ENST00000196489.3	-	4	1255_1256	c.1033_1034insT	c.(1033-1035)tgcfs	p.C345fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAATTCTGCAATGTTCAATA	0.441																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1033-1035)cagfs		zinc finger protein 416																																				SO:0001589	frameshift_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084238_58084239insA	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1034dupT	19.37:g.58084240_58084240dupA	ENSP00000196489:p.Cys345fs						p.Q345fs	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1255_1256	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	345					Q9NWW8	Frame_Shift_Ins	INS	ENST00000196489.3	37	c.1033_1034insT	CCDS12954.1																																																																																				0.441	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		29	78						29	78	---	---	---	---
JAM2	58494	broad.mit.edu	37	21	27012164	27012166	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:27012164_27012166delCTG	ENST00000480456.1	+	1	581_583	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	JAM2_ENST00000425221.2_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del|JAM2_ENST00000400532.1_In_Frame_Del_p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	14					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCGCCTCCTCCTGCTGCTGCTGC	0.724																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(31-33)del		junctional adhesion molecule 2				37,3701		1,35,1833						-5.6	0.0			26	92,7824		1,90,3867	no	coding	JAM2	NM_021219.2		2,125,5700	A1A1,A1R,RR		1.1622,0.9898,1.1069				129,11525				SO:0001651	inframe_deletion	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27012164_27012166delCTG	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.31_33delCTG	21.37:g.27012173_27012175delCTG	ENSP00000420419:p.Leu14del					JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del	p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			1	581_583	+			14					B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	In_Frame_Del	DEL	ENST00000480456.1	37	c.31_33delCTG	CCDS42911.1																																																																																				0.724	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			2	4						2	4	---	---	---	---
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																						ENST00000249014.4																			3	Deletion - In frame(3)	p.N258_A264delNPSAPAA(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(757-780)cca>c		CDC42 effector protein (Rho GTPase binding) 1				868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				SO:0001651	inframe_deletion	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del						p.PAPAANPS253del	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			3	1178_1198	+	Melanoma(58;0.0574)		253			8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].		A8K825|Q96GN1	In_Frame_Del	DEL	ENST00000249014.4	37	c.758_778delCAGCGCCTGCTGCAAACCCCT	CCDS13949.1																																																																																				0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		6	9						6	9	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9863548	9863548	+	Frame_Shift_Del	DEL	C	C	-	rs548293164		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:9863548delC	ENST00000380913.3	+	4	1690	c.1600delC	c.(1600-1602)cggfs	p.R534fs		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	534					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGAGACAGGACGGTGTTACCC	0.692																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(1600-1602)ggfs		shroom family member 2																																				SO:0001589	frameshift_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863548delC	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1600delC	X.37:g.9863548delC	ENSP00000370299:p.Arg534fs						p.R534fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	1690	+		Hepatocellular(5;0.000888)	534					B9EIQ7	Frame_Shift_Del	DEL	ENST00000380913.3	37	c.1600delC	CCDS14135.1																																																																																				0.692	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		2	4						2	4	---	---	---	---
