#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DDI2	84301	broad.mit.edu	37	1	15956839	15956839	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:15956839C>T	ENST00000480945.1	+	3	459	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	96							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463																																						uc001awx.1		NA																	0					0						c.(286-288)TTC>TTT		DNA-damage inducible protein 2							87.0	90.0	89.0					1																	15956839		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956839C>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.288C>T	1.37:g.15956839C>T						DDI2_uc001aww.2_Silent_p.F96F|DDI2_uc009voj.1_5'UTR	p.F96F	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	384	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	96					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.288C>T	CCDS30607.1																																																																																				0.463	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		30	56	0	0	0	0	30	56				
CDC42	998	broad.mit.edu	37	1	22408230	22408230	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:22408230G>A	ENST00000344548.3	+	4	372	c.121G>A	c.(121-123)Gca>Aca	p.A41T	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.A83T|CDC42_ENST00000400259.1_Missense_Mutation_p.A41T|CDC42_ENST00000315554.8_Missense_Mutation_p.A41T	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	41					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGACAACTATGCAGTCACAGT	0.348																																						uc001bfq.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(121-123)GCA>ACA		cell division cycle 42 isoform 1							215.0	192.0	200.0					1																	22408230		2203	4300	6503	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22408230G>A	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.121G>A	1.37:g.22408230G>A	ENSP00000341072:p.Ala41Thr					CDC42_uc009vqg.1_Missense_Mutation_p.A41T|CDC42_uc001bfp.2_Missense_Mutation_p.A41T|CDC42_uc001bfr.2_Missense_Mutation_p.A41T|CDC42_uc010odr.1_Missense_Mutation_p.A86T|CDC42_uc010ods.1_Missense_Mutation_p.A83T|CDC42_uc009vqh.2_Intron	p.A41T	NM_001039802	NP_001034891	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	4	413	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	41					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.121G>A	CCDS221.1	.	.	.	.	.	.	.	.	.	.	g	32	5.142327	0.94560	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.14	5.14	0.70334	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	N	0.05031	-0.125	0.80722	D	1	D;D;D;P	0.67145	0.996;0.99;0.974;0.864	D;D;P;P	0.66084	0.921;0.941;0.786;0.563	T	0.79460	-0.1794	10	0.59425	D	0.04	.	17.5298	0.87810	0.0:0.0:1.0:0.0	.	83;86;41;41	E7ETU3;B4E1U9;P60953;P60953-1	.;.;CDC42_HUMAN;.	T	41;41;41;83;41	ENSP00000383118:A41T;ENSP00000341072:A41T;ENSP00000314458:A41T;ENSP00000398592:A83T;ENSP00000398327:A41T	ENSP00000314458:A41T	A	+	1	0	CDC42	22280817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.768000	0.98965	2.575000	0.86900	0.585000	0.79938	GCA		0.348	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		35	63	0	0	0	0	35	63				
EPHA10	284656	broad.mit.edu	37	1	38227344	38227344	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:38227344C>T	ENST00000373048.4	-	3	582	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	EPHA10_ENST00000427468.2_Missense_Mutation_p.V195M|EPHA10_ENST00000319637.6_Missense_Mutation_p.V195M	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	195	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATGCGCCCACGTCCTGAAAG	0.682																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(583-585)GTG>ATG		EPH receptor A10 isofom 3							32.0	39.0	36.0					1																	38227344		2202	4298	6500	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227344C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.583G>A	1.37:g.38227344C>T	ENSP00000362139:p.Val195Met					EPHA10_uc001cbw.3_Missense_Mutation_p.V195M	p.V195M	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	669	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	195			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.583G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922467	0.73213	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03663	3.85;3.85;3.85	4.53	4.53	0.55603	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.37715	N	0.001973	T	0.14917	0.0360	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.979;0.998	T	0.00036	-1.2258	10	0.87932	D	0	.	10.4075	0.44272	0.0:0.9096:0.0:0.0904	.	195;195	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	M	195	ENSP00000397746:V195M;ENSP00000362139:V195M;ENSP00000316395:V195M	ENSP00000316395:V195M	V	-	1	0	EPHA10	37999931	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.848000	0.39309	2.480000	0.83734	0.643000	0.83706	GTG		0.682	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		18	43	0	0	0	0	18	43				
GLIS1	148979	broad.mit.edu	37	1	53972293	53972293	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:53972293C>T	ENST00000312233.2	-	10	2428	c.1862G>A	c.(1861-1863)tGa>tAa	p.*621*		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGCTCCTTCAGGTGTCTGT	0.642																																						uc001cvr.1		NA																	0				skin(1)	1						c.(1861-1863)TGA>TAA		GLIS family zinc finger 1							61.0	58.0	59.0					1																	53972293		2203	4300	6503	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53972293C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1862G>A	1.37:g.53972293C>T							p.*621*	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			10	2429	-			621						Silent	SNP	ENST00000312233.2	37	c.1862G>A	CCDS582.1																																																																																				0.642	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		20	40	0	0	0	0	20	40				
PRKAA2	5563	broad.mit.edu	37	1	57161705	57161705	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:57161705A>G	ENST00000371244.4	+	6	727	c.661A>G	c.(661-663)Acg>Gcg	p.T221A		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GCATGTACCTACGTTATTTAA	0.448																																						uc001cyk.3		NA																	0				breast(4)|ovary(1)|stomach(1)	6						c.(661-663)ACG>GCG		AMP-activated protein kinase alpha 2 catalytic							312.0	307.0	309.0					1																	57161705		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161705A>G	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.661A>G	1.37:g.57161705A>G	ENSP00000360290:p.Thr221Ala						p.T221A	NM_006252	NP_006243	P54646	AAPK2_HUMAN			6	732	+			221			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.661A>G	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023852	0.54683	.	.	ENSG00000162409	ENST00000371244	T	0.63580	-0.05	5.98	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043091	0.85682	D	0.000000	T	0.43612	0.1255	N	0.11154	0.105	0.80722	D	1	B	0.12630	0.006	B	0.19946	0.027	T	0.43376	-0.9395	10	0.72032	D	0.01	-17.8908	11.5363	0.50639	0.9307:0.0:0.0693:0.0	.	221	P54646	AAPK2_HUMAN	A	221	ENSP00000360290:T221A	ENSP00000360290:T221A	T	+	1	0	PRKAA2	56934293	1.000000	0.71417	0.830000	0.32933	0.774000	0.43823	7.175000	0.77632	2.289000	0.77006	0.533000	0.62120	ACG		0.448	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		137	179	0	0	0	0	137	179				
LRRC8B	23507	broad.mit.edu	37	1	90049999	90049999	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:90049999T>C	ENST00000330947.2	+	5	2150	c.1790T>C	c.(1789-1791)cTg>cCg	p.L597P	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.L597P|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L597P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	597					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCTGTGACCTGGAACGCATC	0.403																																						uc001dni.2		NA																	0				ovary(2)	2						c.(1789-1791)CTG>CCG		leucine rich repeat containing 8 family, member							64.0	64.0	64.0					1																	90049999		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049999T>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1790T>C	1.37:g.90049999T>C	ENSP00000332674:p.Leu597Pro					LRRC8B_uc001dnh.2_Missense_Mutation_p.L597P|LRRC8B_uc001dnj.2_Missense_Mutation_p.L597P	p.L597P	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	2297	+		all_lung(203;0.17)	597			LRR 6.		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1790T>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323380	0.60634	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.70631	-0.5;-0.5;-0.5	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000045	D	0.88782	0.6530	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92962	0.6390	9	.	.	.	.	15.5493	0.76137	0.0:0.0:0.0:1.0	.	597	Q6P9F7	LRC8B_HUMAN	P	597	ENSP00000332674:L597P;ENSP00000350933:L597P;ENSP00000400704:L597P	.	L	+	2	0	LRRC8B	89822587	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.985000	0.88162	2.127000	0.65507	0.533000	0.62120	CTG		0.403	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		3	52	0	0	0	0	3	52				
NBPF9	400818	broad.mit.edu	37	1	144814712	144814712	+	Missense_Mutation	SNP	G	G	A	rs587603139		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:144814712G>A	ENST00000440491.2	+	3	350	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	NBPF9_ENST00000338347.4_Missense_Mutation_p.R117Q|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	375						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GCTCAGGAACGAGAGCTGACC	0.507													.|||	1	0.000199681	0.0	0.0	5008	,	,		22874	0.001		0.0	False		,,,				2504	0.0					uc009wig.1		NA																	0					0						c.(1123-1125)CGA>CAA		hypothetical protein LOC400818							62.0	47.0	52.0					1																	144814712		692	1587	2279	SO:0001583	missense	400818					cytoplasm		g.chr1:144814712G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.350G>A	1.37:g.144814712G>A	ENSP00000390934:p.Arg117Gln					NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.R375Q|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.R306Q|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.R306Q|NBPF9_uc010oyg.1_Missense_Mutation_p.R340Q|NBPF9_uc009wii.1_Missense_Mutation_p.R104Q|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.R35Q	p.R375Q	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			11	1200	+			375			Potential.			Missense_Mutation	SNP	ENST00000440491.2	37	c.1124G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.500|9.500	1.103027|1.103027	0.20632|0.20632	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491	.|T;T	.|0.05447	.|3.45;3.44	0.618|0.618	-0.649|-0.649	0.11461|0.11461	.|.	.|.	.|.	.|.	.|.	T|T	0.07143|0.07143	0.0181|0.0181	.|.	.|.	.|.	0.31785|0.31785	N|N	0.630352|0.630352	.|P;P;P;D;D	.|0.76494	.|0.627;0.913;0.934;0.999;0.98	.|B;B;P;D;B	.|0.71656	.|0.126;0.107;0.614;0.974;0.145	T|T	0.14783|0.14783	-1.0460|-1.0460	4|8	.|0.42905	.|T	.|0.14	.|.	5.0345|5.0345	0.14426|0.14426	0.2676:0.0:0.7324:0.0|0.2676:0.0:0.7324:0.0	.|.	.|340;306;340;375;115	.|Q3BBV7;Q5U227;Q3BBV8;Q3BBV1;A2BGT5	.|.;.;.;NBPFK_HUMAN;.	K|Q	116|117	.|ENSP00000342975:R117Q;ENSP00000390934:R117Q	.|ENSP00000342975:R117Q	E|R	+|+	1|2	0|0	NBPF9|NBPF9	143526069|143526069	0.730000|0.730000	0.28100|0.28100	0.012000|0.012000	0.15200|0.15200	0.004000|0.004000	0.04260|0.04260	0.828000|0.828000	0.27435|0.27435	-0.256000|-0.256000	0.09473|0.09473	0.194000|0.194000	0.17425|0.17425	GAG|CGA		0.507	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		87	129	0	0	0	0	87	129				
C1orf43	25912	broad.mit.edu	37	1	154179930	154179930	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:154179930C>G	ENST00000368521.5	-	7	959	c.761G>C	c.(760-762)tGa>tCa	p.*254S	C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Nonstop_Mutation_p.*202S|C1orf43_ENST00000350592.3_Nonstop_Mutation_p.*220S|C1orf43_ENST00000368519.1_Nonstop_Mutation_p.*236S|C1orf189_ENST00000368525.3_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	0						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCAGCTCCGTCACAGAGTACT	0.517																																						uc001fei.2		NA																	0					0						c.(760-762)TGA>TCA		hypothetical protein LOC25912 isoform 3							127.0	129.0	128.0					1																	154179930		2203	4300	6503	SO:0001578	stop_lost	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179930C>G	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.761G>C	1.37:g.154179930C>G						C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Nonstop_Mutation_p.*151S|C1orf43_uc001feg.2_Nonstop_Mutation_p.*220S|C1orf43_uc001feh.2_Nonstop_Mutation_p.*202S|C1orf43_uc001fej.2_Nonstop_Mutation_p.*236S|C1orf43_uc009wos.1_3'UTR	p.*254S	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN			7	1151	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		254					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Nonstop_Mutation	SNP	ENST00000368521.5	37	c.761G>C	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995367	0.74703	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6642	0.91483	0.0:1.0:0.0:0.0	.	.	.	.	S	220;254;202;236	.	.	X	-	2	2	C1orf43	152446554	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.808000	0.75206	2.890000	0.99128	0.585000	0.79938	TGA		0.517	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		3	159	0	0	0	0	3	159				
BCAN	63827	broad.mit.edu	37	1	156628471	156628471	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:156628471C>T	ENST00000329117.5	+	13	2910	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	858	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATCCGATGCCAAGAGAACG	0.632																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2572-2574)TGC>TGT		brevican isoform 1							76.0	80.0	78.0					1																	156628471		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628471C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2574C>T	1.37:g.156628471C>T							p.C858C	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			13	2910	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		858			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.2574C>T	CCDS1149.1																																																																																				0.632	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		32	82	0	0	0	0	32	82				
ASTN1	460	broad.mit.edu	37	1	176833525	176833525	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:176833525G>A	ENST00000367654.3	-	23	4015	c.3804C>T	c.(3802-3804)ccC>ccT	p.P1268P	ASTN1_ENST00000361833.2_Silent_p.P1260P|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1268					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAAGTCCGTAGGGTTTGATCT	0.572																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3778-3780)CCC>CCT		astrotactin isoform 1							98.0	95.0	96.0					1																	176833525		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833525G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3804C>T	1.37:g.176833525G>A						ASTN1_uc001glb.1_Intron	p.P1260P	NM_004319	NP_004310	O14525	ASTN1_HUMAN			23	3992	-			1268					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3780C>T																																																																																					0.572	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		31	83	0	0	0	0	31	83				
KCNH1	3756	broad.mit.edu	37	1	210971026	210971026	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:210971026G>A	ENST00000271751.4	-	9	1766	c.1739C>T	c.(1738-1740)cCg>cTg	p.P580L	KCNH1_ENST00000367007.4_Missense_Mutation_p.P553L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	580					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCGGAAGGCCGGGTGCTCCTT	0.607																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1738-1740)CCG>CTG		potassium voltage-gated channel, subfamily H,							60.0	57.0	58.0					1																	210971026		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971026G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1739C>T	1.37:g.210971026G>A	ENSP00000271751:p.Pro580Leu					KCNH1_uc001hic.2_Missense_Mutation_p.P553L	p.P580L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1909	-			580			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1739C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829133	0.71258	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97404	-4.37;-4.37	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.74258	2.255	0.80722	D	1	B;B	0.22211	0.014;0.066	B;B	0.20184	0.009;0.028	D	0.94513	0.7720	10	0.56958	D	0.05	.	19.0956	0.93249	0.0:0.0:1.0:0.0	.	553;580	Q14CL3;O95259	.;KCNH1_HUMAN	L	580;553	ENSP00000271751:P580L;ENSP00000355974:P553L	ENSP00000271751:P580L	P	-	2	0	KCNH1	209037649	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	9.498000	0.97972	2.506000	0.84524	0.655000	0.94253	CCG		0.607	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		22	47	0	0	0	0	22	47				
SKIDA1	387640	broad.mit.edu	37	10	21804522	21804522	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr10:21804522C>G	ENST00000449193.2	-	4	4482	c.2230G>C	c.(2230-2232)Gaa>Caa	p.E744Q	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E665Q	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	663						nucleus (GO:0005634)											GAAGGAGTTTCTTTTTCAGGG	0.453																																						uc009xkd.2		NA																	0				ovary(1)	1						c.(2230-2232)GAA>CAA		hypothetical protein LOC387640							224.0	216.0	219.0					10																	21804522		1886	4110	5996	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804522C>G	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2230G>C	10.37:g.21804522C>G	ENSP00000410041:p.Glu744Gln					uc001iqp.1_Intron	p.E744Q	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4483	-			663					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2230G>C	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887570	0.33348	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.87	5.87	0.94306	.	0.374430	0.30676	N	0.009110	T	0.34019	0.0883	N	0.14661	0.345	0.31140	N	0.706768	B	0.14012	0.009	B	0.11329	0.006	T	0.36866	-0.9730	9	0.72032	D	0.01	-17.1407	15.0964	0.72238	0.0:0.859:0.141:0.0	.	744	E9PAX1	.	Q	744;665	.	ENSP00000442432:E665Q	E	-	1	0	C10orf140	21844528	1.000000	0.71417	0.986000	0.45419	0.896000	0.52359	1.124000	0.31320	2.941000	0.99782	0.655000	0.94253	GAA		0.453	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		80	152	0	0	0	0	80	152				
NEUROG3	50674	broad.mit.edu	37	10	71332754	71332754	+	Missense_Mutation	SNP	C	C	T	rs146974265	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr10:71332754C>T	ENST00000242462.4	-	2	75	c.46G>A	c.(46-48)Gag>Aag	p.E16K	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	16					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCTCCGTCTCACGGGTCACT	0.677																																						uc001jpp.2		NA																	0					0						c.(46-48)GAG>AAG		neurogenin 3							43.0	48.0	46.0					10																	71332754		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332754C>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.46G>A	10.37:g.71332754C>T	ENSP00000242462:p.Glu16Lys						p.E16K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	204	-			16					Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.46G>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745524	0.30955	.	.	ENSG00000122859	ENST00000242462	D	0.95554	-3.74	4.69	2.66	0.31614	.	6.212120	0.00691	U	0.000728	D	0.92378	0.7581	L	0.29908	0.895	0.20074	N	0.999936	B	0.09022	0.002	B	0.10450	0.005	T	0.80901	-0.1175	10	0.45353	T	0.12	-10.8618	8.5497	0.33444	0.0:0.7203:0.1936:0.0861	.	16	Q9Y4Z2	NGN3_HUMAN	K	16	ENSP00000242462:E16K	ENSP00000242462:E16K	E	-	1	0	NEUROG3	71002760	0.000000	0.05858	0.028000	0.17463	0.015000	0.08874	-0.146000	0.10250	0.460000	0.27045	0.655000	0.94253	GAG		0.677	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		17	44	0	0	0	0	17	44				
SORCS3	22986	broad.mit.edu	37	10	106982909	106982909	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr10:106982909G>A	ENST00000369701.3	+	20	2997	c.2770G>A	c.(2770-2772)Gtt>Att	p.V924I	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	924					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTTCCATTTGTTGCCATAAG	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2770-2772)GTT>ATT		VPS10 domain receptor protein SORCS 3 precursor							160.0	152.0	155.0					10																	106982909		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106982909G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2770G>A	10.37:g.106982909G>A	ENSP00000358715:p.Val924Ile					SORCS3_uc010qqz.1_RNA	p.V924I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	20	2997	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	924			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2770G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861481	0.91433	.	.	ENSG00000156395	ENST00000369701	T	0.15952	2.38	5.06	5.06	0.68205	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.76574	2.34	0.58432	D	0.999999	D	0.65815	0.995	P	0.60949	0.881	T	0.19224	-1.0312	9	.	.	.	.	18.7786	0.91922	0.0:0.0:1.0:0.0	.	924	Q9UPU3	SORC3_HUMAN	I	924	ENSP00000358715:V924I	.	V	+	1	0	SORCS3	106972899	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.101000	0.94219	2.516000	0.84829	0.563000	0.77884	GTT		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		25	73	0	0	0	0	25	73				
SBF2	81846	broad.mit.edu	37	11	10022466	10022466	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:10022466C>G	ENST00000256190.8	-	8	993	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	286	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTACAAGTTCATGGACATCA	0.363																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(856-858)GAA>CAA		SET binding factor 2							52.0	51.0	52.0					11																	10022466		2201	4292	6493	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10022466C>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.856G>C	11.37:g.10022466C>G	ENSP00000256190:p.Glu286Gln					SBF2_uc001mif.3_Missense_Mutation_p.E42Q	p.E286Q	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	8	994	-			286			DENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.856G>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894905	0.91962	.	.	ENSG00000133812	ENST00000256190	T	0.12465	2.68	5.58	5.58	0.84498	DENN (3);	0.062472	0.64402	D	0.000004	T	0.39118	0.1066	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	T	0.05550	-1.0878	9	.	.	.	.	19.5687	0.95404	0.0:1.0:0.0:0.0	.	286	Q86WG5	MTMRD_HUMAN	Q	286	ENSP00000256190:E286Q	.	E	-	1	0	SBF2	9979042	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.682000	0.68182	2.606000	0.88127	0.655000	0.94253	GAA		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	6	0	0	0	0	3	6				
ABTB2	25841	broad.mit.edu	37	11	34194744	34194744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:34194744C>T	ENST00000435224.2	-	4	1779	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.R266Q	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	452					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGCAGCAGCCGGGCTGCCTG	0.692																																						uc001mvl.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(796-798)CGG>CAG		ankyrin repeat and BTB (POZ) domain containing							21.0	25.0	24.0					11																	34194744		2197	4285	6482	SO:0001583	missense	25841						DNA binding	g.chr11:34194744C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1355G>A	11.37:g.34194744C>T	ENSP00000410157:p.Arg452Gln						p.R266Q	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			4	1027	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	266					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.797G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	37	6.144594	0.97324	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.68903	-0.33;-0.36	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78907	-0.2019	10	0.66056	D	0.02	-13.4315	18.9962	0.92813	0.0:1.0:0.0:0.0	.	266	Q8N961	ABTB2_HUMAN	Q	452;266	ENSP00000410157:R452Q;ENSP00000298992:R266Q	ENSP00000298992:R266Q	R	-	2	0	ABTB2	34151320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.706000	0.84615	2.481000	0.83766	0.561000	0.74099	CGG		0.692	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		13	36	0	0	0	0	13	36				
TP53I11	9537	broad.mit.edu	37	11	44958408	44958408	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:44958408C>T	ENST00000533940.1	-	8	884	c.280G>A	c.(280-282)Gga>Aga	p.G94R	TP53I11_ENST00000308212.5_Missense_Mutation_p.G94R|TP53I11_ENST00000525680.1_Missense_Mutation_p.G94R|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000531928.2_Missense_Mutation_p.G94R|TP53I11_ENST00000395648.3_Missense_Mutation_p.G94R	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	94					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACCTGGGCTCCATCAAAGACC	0.687											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myi.2		NA																	0				ovary(1)	1						c.(280-282)GGA>AGA		p53-induced protein							36.0	35.0	35.0					11																	44958408		2203	4298	6501	SO:0001583	missense	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44958408C>T	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.280G>A	11.37:g.44958408C>T	ENSP00000436152:p.Gly94Arg		OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	115	TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Missense_Mutation_p.G94R|TP53I11_uc001myk.2_Missense_Mutation_p.G94R|TP53I11_uc001myl.2_Missense_Mutation_p.G94R|TP53I11_uc001mym.2_Missense_Mutation_p.G41R	p.G94R	NM_006034	NP_006025	O14683	P5I11_HUMAN			8	885	-			94			Extracellular (Potential).		Q3ZCS0	Missense_Mutation	SNP	ENST00000533940.1	37	c.280G>A	CCDS7911.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360341	0.41801	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000308220;ENST00000533940;ENST00000525680;ENST00000528473;ENST00000525683;ENST00000525138	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.32224	0.0822	N	0.08118	0	0.36591	D	0.874092	P;P	0.49090	0.919;0.703	P;B	0.46275	0.51;0.252	T	0.34079	-0.9843	8	0.33940	T	0.23	.	11.674	0.51419	0.0:0.9183:0.0:0.0817	.	41;94	Q8N8U5;O14683	.;P5I11_HUMAN	R	94;94;41;94;94;94;94;122	.	ENSP00000309532:G94R	G	-	1	0	TP53I11	44914984	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	5.598000	0.67585	2.299000	0.77371	0.561000	0.74099	GGA		0.687	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		10	26	0	0	0	0	10	26				
MYRF	745	broad.mit.edu	37	11	61533490	61533490	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:61533490G>A	ENST00000278836.5	+	3	291	c.195G>A	c.(193-195)gcG>gcA	p.A65A	MYRF_ENST00000265460.5_Silent_p.A56A|TMEM258_ENST00000535042.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	65					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCAGCCTGCGATGCCTGGCT	0.746																																						uc001nsc.1		NA																	0				breast(1)	1						c.(193-195)GCG>GCA		myelin gene regulatory factor isoform 2							8.0	8.0	8.0					11																	61533490		2158	4205	6363	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61533490G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.195G>A	11.37:g.61533490G>A						C11orf9_uc001nse.1_Silent_p.A56A	p.A65A	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			3	291	+			65					O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.195G>A	CCDS44622.1																																																																																				0.746	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		5	13	0	0	0	0	5	13				
PCNXL3	399909	broad.mit.edu	37	11	65402839	65402839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:65402839C>T	ENST00000355703.3	+	31	5643	c.5104C>T	c.(5104-5106)Cgc>Tgc	p.R1702C	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1702						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGGCGCTGCGCCATGTCCT	0.637																																						uc001oey.2		NA																	0					0						c.(5104-5106)CGC>TGC		pecanex-like 3							22.0	23.0	22.0					11																	65402839		2079	4195	6274	SO:0001583	missense	399909					integral to membrane		g.chr11:65402839C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5104C>T	11.37:g.65402839C>T	ENSP00000347931:p.Arg1702Cys					PCNXL3_uc001oez.2_Missense_Mutation_p.R589C	p.R1702C	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			31	5104	+			1702					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5104C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190214	0.58017	.	.	ENSG00000197136	ENST00000355703	T	0.58210	0.35	4.03	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.91561	3.22	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.79967	-0.1580	10	0.72032	D	0.01	.	10.8539	0.46786	0.1879:0.8121:0.0:0.0	.	589;1702	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1702	ENSP00000347931:R1702C	ENSP00000347931:R1702C	R	+	1	0	PCNXL3	65159415	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	4.295000	0.59049	2.097000	0.63578	0.462000	0.41574	CGC		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	20	0	0	0	0	7	20				
GAB2	9846	broad.mit.edu	37	11	77937653	77937653	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:77937653G>A	ENST00000361507.4	-	4	1150	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P317P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	355					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGGCTTGGGGGGGCGGGGTG	0.582																																						uc001ozh.2		NA																	0				ovary(5)|lung(1)	6						c.(1063-1065)CCC>CCT		GRB2-associated binding protein 2 isoform a							50.0	56.0	54.0					11																	77937653		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937653G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1065C>T	11.37:g.77937653G>A						GAB2_uc001ozg.2_Silent_p.P317P	p.P355P	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1065	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		355			SH3-binding.		A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1065C>T	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		24	53	0	0	0	0	24	53				
EXPH5	23086	broad.mit.edu	37	11	108385369	108385369	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr11:108385369G>C	ENST00000265843.4	-	6	975	c.865C>G	c.(865-867)Cct>Gct	p.P289A	EXPH5_ENST00000428840.1_Missense_Mutation_p.P213A|EXPH5_ENST00000443411.1_Missense_Mutation_p.P101A|EXPH5_ENST00000525344.1_Missense_Mutation_p.P282A|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	289					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.P289S(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTGTCCTAGGAGAAAAGGTT	0.378																																						uc001pkk.2		NA																	2	Substitution - Missense(2)		skin(2)	skin(3)|ovary(2)	5						c.(865-867)CCT>GCT		exophilin 5 isoform a							90.0	86.0	87.0					11																	108385369		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385369G>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.865C>G	11.37:g.108385369G>C	ENSP00000265843:p.Pro289Ala					EXPH5_uc010rvy.1_Missense_Mutation_p.P101A|EXPH5_uc010rvz.1_Missense_Mutation_p.P133A|EXPH5_uc010rwa.1_Missense_Mutation_p.P213A	p.P289A	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	976	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	289					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.865C>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640464	0.29157	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04234	4.27;4.19;4.04;4.27;4.1;3.67	5.67	3.58	0.41010	.	0.240593	0.29822	N	0.011111	T	0.12561	0.0305	M	0.67953	2.075	0.27742	N	0.94444	D	0.63880	0.993	D	0.63033	0.91	T	0.05194	-1.0900	10	0.38643	T	0.18	-17.3368	4.7559	0.13085	0.1988:0.0:0.5257:0.2756	.	289	Q8NEV8	EXPH5_HUMAN	A	289;213;101;282;133;213;101	ENSP00000265843:P289A;ENSP00000391966:P213A;ENSP00000411390:P101A;ENSP00000432546:P282A;ENSP00000432683:P213A;ENSP00000446434:P101A	ENSP00000265843:P289A	P	-	1	0	EXPH5	107890579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.488000	0.45276	1.393000	0.46605	-0.150000	0.13652	CCT		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	30	0	0	0	0	12	30				
CLEC2D	29121	broad.mit.edu	37	12	9840539	9840539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:9840539C>T	ENST00000290855.6	+	3	236	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	CLEC2D_ENST00000545918.1_Nonsense_Mutation_p.Q35*|CLEC2D_ENST00000261340.7_Nonsense_Mutation_p.Q72*|CLEC2D_ENST00000261339.6_Nonsense_Mutation_p.Q35*|CLEC2D_ENST00000543300.1_Nonsense_Mutation_p.Q72*	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	72					cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						AGTATGTCTTCAAGCTGCATG	0.323																																						uc001qwg.1		NA																	0					0						c.(214-216)CAA>TAA		osteoclast inhibitory lectin isoform 1							85.0	84.0	84.0					12																	9840539		2203	4300	6503	SO:0001587	stop_gained	29121				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	g.chr12:9840539C>T	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.214C>T	12.37:g.9840539C>T	ENSP00000290855:p.Gln72*					CLEC2D_uc001qwf.1_Nonsense_Mutation_p.Q72*|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Nonsense_Mutation_p.Q30*	p.Q72*	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN			3	236	+			72			Extracellular (Potential).		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Nonsense_Mutation	SNP	ENST00000290855.6	37	c.214C>T	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290130	0.23478	.	.	ENSG00000069493	ENST00000479410;ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000544322;ENST00000460309	.	.	.	3.49	-3.81	0.04294	.	5.044330	0.01431	U	0.014751	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5275	1.3511	0.02173	0.3326:0.3404:0.1947:0.1323	.	.	.	.	X	30;72;72;35;72;35;29;51;46;15	.	.	Q	+	1	0	CLEC2D	9731806	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.558000	0.05978	-0.753000	0.04721	-0.450000	0.05554	CAA		0.323	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		11	38	0	0	0	0	11	38				
ANO4	121601	broad.mit.edu	37	12	101491682	101491682	+	Silent	SNP	G	G	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:101491682G>T	ENST00000392977.3	+	21	2175	c.1965G>T	c.(1963-1965)gtG>gtT	p.V655V	ANO4_ENST00000550015.1_Silent_p.V175V|ANO4_ENST00000392979.3_Silent_p.V620V|ANO4_ENST00000299222.9_Silent_p.V175V			Q32M45	ANO4_HUMAN	anoctamin 4	655					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTATAATGgtgctaaagcaga	0.413										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(1963-1965)GTG>GTT		anoctamin 4							178.0	163.0	168.0					12																	101491682		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101491682G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1965G>T	12.37:g.101491682G>T		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.V620V|ANO4_uc001thx.2_Silent_p.V655V|ANO4_uc001thy.2_Silent_p.V175V	p.V655V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			21	2537	+			655			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1965G>T																																																																																					0.413	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		25	60	1	0	3.17e-13	3.78e-13	25	60				
CIT	11113	broad.mit.edu	37	12	120172072	120172072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:120172072G>A	ENST00000261833.7	-	25	3173	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1083W	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1041					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCACTGCCGCTCTTTTTCT	0.547																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3121-3123)CGG>TGG		citron							113.0	94.0	100.0					12																	120172072		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120172072G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3121C>T	12.37:g.120172072G>A	ENSP00000261833:p.Arg1041Trp					CIT_uc001txh.1_Missense_Mutation_p.R575W|CIT_uc001txj.1_Missense_Mutation_p.R1083W	p.R1041W	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	25	3174	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1041			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3121C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069911	0.76301	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.66460	-0.18;-0.21;1.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.965;0.99;0.924	T	0.77757	-0.2468	10	0.72032	D	0.01	.	19.0703	0.93130	0.0:0.0:1.0:0.0	.	1083;1041;574	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	W	1083;1041;83	ENSP00000376306:R1083W;ENSP00000261833:R1041W;ENSP00000446105:R83W	ENSP00000261833:R1041W	R	-	1	2	CIT	118656455	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.051000	0.64257	2.508000	0.84585	0.467000	0.42956	CGG		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		34	42	0	0	0	0	34	42				
UBC	7316	broad.mit.edu	37	12	125397196	125397196	+	Silent	SNP	C	C	T	rs1136634		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr12:125397196C>T	ENST00000536769.1	-	1	2698	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V298V|UBC_ENST00000339647.5_Silent_p.V374V			P0CG48	UBC_HUMAN	ubiquitin C	374	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGCACCAGGTGCA	0.532																																						uc001ugs.3		NA																	0				ovary(2)	2						c.(1120-1122)GTG>GTA		ubiquitin C							237.0	218.0	224.0					12																	125397196		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397196C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1122G>A	12.37:g.125397196C>T						UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.V374V|UBC_uc001ugt.2_Silent_p.V374V|UBC_uc001ugv.2_Intron	p.V374V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1570	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		374			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1122G>A	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		5	153	0	0	0	0	5	153				
AJUBA	84962	broad.mit.edu	37	14	23444255	23444255	+	Missense_Mutation	SNP	T	T	A	rs200247985		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:23444255T>A	ENST00000262713.2	-	5	1673	c.1298A>T	c.(1297-1299)aAc>aTc	p.N433I	AJUBA_ENST00000397388.3_Missense_Mutation_p.N16I|AJUBA_ENST00000361265.4_Missense_Mutation_p.N433I|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGGCACTTGTTGCAAACAAT	0.522																																						uc001whz.2		NA																	0					0						c.(1297-1299)AAC>ATC		ajuba isoform 1							149.0	137.0	141.0					14																	23444255		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444255T>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1298A>T	14.37:g.23444255T>A	ENSP00000262713:p.Asn433Ile					JUB_uc001why.2_Missense_Mutation_p.N16I	p.N433I	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	5	1674	-	all_cancers(95;4.6e-05)		433			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1298A>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841232	0.71488	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.88277	-2.36;-2.33;-2.36;-2.33;-2.33;-2.3	5.91	5.91	0.95273	Zinc finger, LIM-type (4);	0.133966	0.52532	D	0.000068	D	0.95411	0.8510	H	0.94462	3.54	0.45962	D	0.998781	D	0.54397	0.966	P	0.61132	0.884	D	0.96266	0.9195	10	0.66056	D	0.02	.	14.3004	0.66346	0.0:0.0:0.0:1.0	.	433	Q96IF1	JUB_HUMAN	I	433;16;433;16;16;16	ENSP00000262713:N433I;ENSP00000380543:N16I;ENSP00000354491:N433I;ENSP00000452369:N16I;ENSP00000451649:N16I;ENSP00000452325:N16I	ENSP00000262713:N433I	N	-	2	0	JUB	22514095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	2.254000	0.74563	0.533000	0.62120	AAC		0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			57	32	0	0	0	0	57	32				
MPP5	64398	broad.mit.edu	37	14	67779302	67779302	+	Missense_Mutation	SNP	G	G	A	rs150659640		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:67779302G>A	ENST00000261681.4	+	9	1761	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R333Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	367	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GTTCCATGTCGAGAGTTAGGT	0.393																																						uc001xjc.2		NA																	0				ovary(1)	1						c.(1099-1101)CGA>CAA		membrane protein, palmitoylated 5		G	GLN/ARG	0,4406		0,0,2203	130.0	116.0	121.0		1100	5.7	1.0	14	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP5	NM_022474.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	367/676	67779302	1,13005	2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67779302G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1100G>A	14.37:g.67779302G>A	ENSP00000261681:p.Arg367Gln					MPP5_uc001xjd.2_Missense_Mutation_p.R333Q|ATP6V1D_uc001xje.2_Intron	p.R367Q	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	9	1566	+			367			SH3.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.1100G>A	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570535	0.86542	0.0	1.16E-4	ENSG00000072415	ENST00000261681;ENST00000555925	D;D	0.82255	-1.59;-1.59	5.67	5.67	0.87782	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	N	0.20986	0.625	0.80722	D	1	P	0.40553	0.721	B	0.42163	0.378	T	0.76680	-0.2870	10	0.35671	T	0.21	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	367	Q8N3R9	MPP5_HUMAN	Q	367;333	ENSP00000261681:R367Q;ENSP00000451488:R333Q	ENSP00000261681:R367Q	R	+	2	0	MPP5	66849055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.835000	0.97688	0.591000	0.81541	CGA		0.393	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		58	18	0	0	0	0	58	18				
UNC79	57578	broad.mit.edu	37	14	94088226	94088226	+	Silent	SNP	A	A	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:94088226A>G	ENST00000393151.2	+	30	4647	c.4647A>G	c.(4645-4647)agA>agG	p.R1549R	UNC79_ENST00000555664.1_Silent_p.R1549R|UNC79_ENST00000553484.1_Silent_p.R1571R|UNC79_ENST00000256339.4_Silent_p.R1372R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1549					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACGTTCTAGACAGAACTCTG	0.512																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4180-4182)AGA>AGG		hypothetical protein LOC57578							81.0	75.0	77.0					14																	94088226		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088226A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4647A>G	14.37:g.94088226A>G						KIAA1409_uc001ybs.1_Silent_p.R1372R	p.R1394R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4265	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1549					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4182A>G																																																																																					0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		68	33	0	0	0	0	68	33				
PACS2	23241	broad.mit.edu	37	14	105849787	105849787	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr14:105849787G>A	ENST00000325438.8	+	16	2209	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	PACS2_ENST00000547217.1_Missense_Mutation_p.E539K|PACS2_ENST00000447393.1_Missense_Mutation_p.E573K|PACS2_ENST00000430725.2_Missense_Mutation_p.E494K|PACS2_ENST00000551743.1_Missense_Mutation_p.E83K|PACS2_ENST00000458164.2_Missense_Mutation_p.E573K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	569					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCTTTGTGGAGCAGCTGTC	0.642																																						uc001yqt.2		NA																	0				pancreas(1)	1						c.(1705-1707)GAG>AAG		phosphofurin acidic cluster sorting protein 2							71.0	69.0	70.0					14																	105849787		2202	4299	6501	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849787G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1705G>A	14.37:g.105849787G>A	ENSP00000321834:p.Glu569Lys					PACS2_uc001yqs.2_Missense_Mutation_p.E494K|PACS2_uc001yqv.2_Missense_Mutation_p.E573K|PACS2_uc001yqu.2_Missense_Mutation_p.E573K	p.E569K	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	16	1880	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	569					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1705G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320995	0.81580	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.17	3.27	0.37495	.	0.113836	0.64402	D	0.000017	T	0.59569	0.2203	L	0.54323	1.7	0.80722	D	1	P;P;D;P	0.76494	0.835;0.659;0.999;0.897	P;P;D;B	0.74023	0.491;0.477;0.982;0.363	T	0.56631	-0.7947	10	0.39692	T	0.17	-35.1446	11.0478	0.47870	0.095:0.0:0.905:0.0	.	573;573;569;570	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	K	494;569;573;573;539;83	ENSP00000393524:E494K;ENSP00000321834:E569K;ENSP00000399732:E573K;ENSP00000393559:E573K;ENSP00000449525:E539K;ENSP00000449254:E83K	ENSP00000321834:E569K	E	+	1	0	PACS2	104920832	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.708000	0.84633	0.868000	0.35678	0.462000	0.41574	GAG		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		47	16	0	0	0	0	47	16				
SALL1	6299	broad.mit.edu	37	16	51174768	51174768	+	Silent	SNP	C	C	T	rs371503908		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:51174768C>T	ENST00000251020.4	-	2	1398	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A358A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	455					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGACCTTCGCGCAGAACC	0.512																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1363-1365)GCG>GCA		sal-like 1 isoform a		C	,	0,4396		0,0,2198	104.0	96.0	99.0		1074,1365	-7.9	0.8	16		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	358/1228,455/1325	51174768	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174768C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1365G>A	16.37:g.51174768C>T						SALL1_uc010vgr.1_Silent_p.A358A|SALL1_uc010cbv.2_Intron	p.A455A	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1396	-		all_cancers(37;0.0322)	455			C2H2-type 1.		Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1365G>A	CCDS10747.1																																																																																				0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		47	59	0	0	0	0	47	59				
E2F4	1874	broad.mit.edu	37	16	67235652	67235652	+	IGR	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:67235652G>A	ENST00000379378.3	+	0	2096				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Missense_Mutation_p.R345Q|ELMO3_ENST00000393997.2_Missense_Mutation_p.R362Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R196Q	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CAGGAGCAGCGGGAGCAGCTG	0.637																																						uc002esa.2		NA																	0					0						c.(1084-1086)CGG>CAG		engulfment and cell motility 3							30.0	37.0	34.0					16																	67235652		2064	4208	6272	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235652G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235652G>A						ELMO3_uc002esb.2_Missense_Mutation_p.R345Q|ELMO3_uc002esc.2_Missense_Mutation_p.R196Q	p.R362Q	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	11	1128	+		Ovarian(137;0.0563)	309			ELMO.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1085G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313459	0.95655	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.31510	1.49;1.49	5.42	5.42	0.78866	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.42310	-0.9459	10	0.44086	T	0.13	-32.6266	17.8087	0.88609	0.0:0.0:1.0:0.0	.	309;345;362	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	345;362	ENSP00000354077:R345Q;ENSP00000377566:R362Q	ENSP00000354077:R345Q	R	+	2	0	ELMO3	65793153	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.624000	0.83124	2.561000	0.86390	0.462000	0.41574	CGG		0.637	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		17	37	0	0	0	0	17	37				
PLEKHG4	25894	broad.mit.edu	37	16	67315718	67315718	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr16:67315718A>G	ENST00000360461.5	+	6	3518	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q328R|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q247R|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q328R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	328							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TACTGCCACCAGGCCTGGCTG	0.617																																						uc002eso.3		NA																	0				skin(1)|pancreas(1)	2						c.(982-984)CAG>CGG		pleckstrin homology domain containing, family G							46.0	50.0	48.0					16																	67315718		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67315718A>G	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.983A>G	16.37:g.67315718A>G	ENSP00000353646:p.Gln328Arg					PLEKHG4_uc002esp.3_Missense_Mutation_p.Q135R|PLEKHG4_uc002esq.3_Missense_Mutation_p.Q328R|PLEKHG4_uc010cef.2_Missense_Mutation_p.Q328R|PLEKHG4_uc002ess.3_Missense_Mutation_p.Q328R|PLEKHG4_uc010ceg.2_Missense_Mutation_p.Q247R	p.Q328R	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	6	3518	+			328					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.983A>G	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	A	2.926	-0.222217	0.06061	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.3	1.81	0.25067	.	1.139410	0.07033	N	0.828787	T	0.51109	0.1655	L	0.50919	1.6	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.08055	0.003;0.003	T	0.37596	-0.9699	10	0.33940	T	0.23	.	8.9889	0.36010	0.7617:0.0:0.2383:0.0	.	247;328	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	R	328;328;328;247	ENSP00000353646:Q328R;ENSP00000401118:Q328R;ENSP00000368649:Q328R;ENSP00000398030:Q247R	ENSP00000353646:Q328R	Q	+	2	0	PLEKHG4	65873219	0.443000	0.25641	0.418000	0.26571	0.565000	0.35776	1.161000	0.31773	0.129000	0.18514	-1.963000	0.00474	CAG		0.617	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		4	104	0	0	0	0	4	104				
OR1A2	26189	broad.mit.edu	37	17	3101020	3101020	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:3101020G>A	ENST00000381951.1	+	1	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	70					positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTCCTTGGTTGACATCATCTT	0.483																																						uc002fvd.1		NA																	0				skin(2)	2						c.(208-210)GAC>AAC		olfactory receptor, family 1, subfamily A,							260.0	218.0	232.0					17																	3101020		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101020G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.208G>A	17.37:g.3101020G>A	ENSP00000371377:p.Asp70Asn						p.D70N	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	208	+			70			Helical; Name=2; (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.208G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356265	0.61293	.	.	ENSG00000172150	ENST00000381951	T	0.01165	5.24	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.11324	0.0276	H	0.95504	3.68	0.37822	D	0.928401	D	0.89917	1.0	D	0.87578	0.998	T	0.09684	-1.0663	10	0.87932	D	0	.	15.3669	0.74529	0.0:0.0:1.0:0.0	.	70	Q9Y585	OR1A2_HUMAN	N	70	ENSP00000371377:D70N	ENSP00000371377:D70N	D	+	1	0	OR1A2	3047770	1.000000	0.71417	0.874000	0.34290	0.066000	0.16364	8.617000	0.90927	2.278000	0.76064	0.603000	0.83216	GAC		0.483	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		85	112	0	0	0	0	85	112				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)	uc002gim.2	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		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.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		53	31	0	0	0	0	53	31				
MYO15A	51168	broad.mit.edu	37	17	18022714	18022714	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:18022714C>T	ENST00000205890.5	+	2	938	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	200					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCGTCAGGCGAGCCCCTGG	0.706																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(598-600)GGC>GGT		myosin XV							23.0	26.0	25.0					17																	18022714		1982	4143	6125	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022714C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.600C>T	17.37:g.18022714C>T							p.G200G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	938	+	all_neural(463;0.228)		200			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.600C>T	CCDS42271.1																																																																																				0.706	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	41	0	0	0	0	12	41				
VPS25	84313	broad.mit.edu	37	17	40925516	40925516	+	Missense_Mutation	SNP	C	C	T	rs141909224		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:40925516C>T	ENST00000253794.2	+	1	63	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	8					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCGAGTGGCCGTGGCAGTAT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17251	0.0		0.001	False		,,,				2504	0.0					uc002ibi.2		NA																	0					0						c.(22-24)CCG>CTG		vacuolar protein sorting 25		C	LEU/PRO	0,4406		0,0,2203	180.0	154.0	163.0		23	5.0	1.0	17	dbSNP_134	163	2,8598	2.2+/-6.3	0,2,4298	no	missense	VPS25	NM_032353.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	8/177	40925516	2,13004	2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925516C>T	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.23C>T	17.37:g.40925516C>T	ENSP00000253794:p.Pro8Leu						p.P8L	NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	1	63	+		Breast(137;0.00104)	8					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.23C>T	CCDS11438.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	34	5.371371	0.95923	0.0	2.33E-4	ENSG00000131475	ENST00000253794	T	0.69561	-0.41	5.04	5.04	0.67666	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91999	0.5609	10	0.87932	D	0	-22.0686	17.9912	0.89170	0.0:1.0:0.0:0.0	.	8	Q9BRG1	VPS25_HUMAN	L	8	ENSP00000253794:P8L	ENSP00000253794:P8L	P	+	2	0	VPS25	38179042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.222000	0.78025	2.340000	0.79590	0.561000	0.74099	CCG		0.632	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		26	123	0	0	0	0	26	123				
MPO	4353	broad.mit.edu	37	17	56352927	56352927	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:56352927C>T	ENST00000225275.3	-	8	1517	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	MPO_ENST00000340482.3_Silent_p.R479R|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	447			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCACGATCTTCCGGGCTTCCT	0.607																																						uc002ivu.1		NA																	0		p.R447Q(1)		ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1339-1341)CGG>CGA		myeloperoxidase	Cefdinir(DB00535)						101.0	77.0	85.0					17																	56352927		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56352927C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1341G>A	17.37:g.56352927C>T							p.R447R	NM_000250	NP_000241	P05164	PERM_HUMAN			8	1518	-			447		R -> Q (in a colorectal cancer sample; somatic mutation).			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1341G>A	CCDS11604.1																																																																																				0.607	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			14	44	0	0	0	0	14	44				
KIAA0195	9772	broad.mit.edu	37	17	73487507	73487507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr17:73487507C>A	ENST00000314256.7	+	13	1751	c.1357C>A	c.(1357-1359)Cta>Ata	p.L453I	KIAA0195_ENST00000579208.1_Missense_Mutation_p.L104I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L463I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	453						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGATGGCCTATCCACCCG	0.637																																						uc002jnz.3		NA																	0				ovary(1)	1						c.(1357-1359)CTA>ATA		hypothetical protein LOC9772							96.0	85.0	89.0					17																	73487507		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487507C>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1357C>A	17.37:g.73487507C>A	ENSP00000313885:p.Leu453Ile					KIAA0195_uc010wsa.1_Missense_Mutation_p.L463I|KIAA0195_uc010wsb.1_Missense_Mutation_p.L105I	p.L453I	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1632	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		453					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1357C>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640365	0.47153	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.49139	0.8;0.79	5.53	4.55	0.56014	.	0.071936	0.64402	D	0.000020	T	0.40839	0.1133	L	0.43152	1.355	0.51482	D	0.999926	P;P;P	0.51351	0.793;0.944;0.908	B;P;B	0.45037	0.206;0.467;0.277	T	0.12708	-1.0537	10	0.32370	T	0.25	-12.2258	9.6263	0.39752	0.1384:0.7898:0.0:0.0718	.	463;463;453	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	I	453;463	ENSP00000313885:L453I;ENSP00000364397:L463I	ENSP00000313885:L453I	L	+	1	2	KIAA0195	70999102	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.577000	0.53885	2.608000	0.88229	0.561000	0.74099	CTA		0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		37	69	1	0	7.63e-17	9.15e-17	37	69				
SAFB	6294	broad.mit.edu	37	19	5641946	5641946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:5641946C>T	ENST00000292123.5	+	4	642	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Nonsense_Mutation_p.Q179*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.Q179*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.Q9*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	179					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGAGCAGCTTCAGGAACATGC	0.458																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NA																	0				ovary(1)|liver(1)|skin(1)	3						c.(535-537)CAG>TAG		scaffold attachment factor B							57.0	50.0	53.0					19																	5641946		2203	4300	6503	SO:0001587	stop_gained	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641946C>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.535C>T	19.37:g.5641946C>T	ENSP00000292123:p.Gln179*					SAFB_uc010xiq.1_Nonsense_Mutation_p.Q179*|SAFB_uc002mcg.2_Nonsense_Mutation_p.Q179*|SAFB_uc002mce.3_Nonsense_Mutation_p.Q179*|SAFB_uc010xir.1_Nonsense_Mutation_p.Q179*|SAFB_uc010xis.1_Intron|SAFB_uc010xit.1_Intron|SAFB_uc010xiu.1_Intron	p.Q179*	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	4	588	+			179					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Nonsense_Mutation	SNP	ENST00000292123.5	37	c.535C>T	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	40	8.370638	0.98781	.	.	ENSG00000160633	ENST00000433404;ENST00000292123	.	.	.	5.71	4.65	0.58169	.	1.270090	0.05584	N	0.573508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.0364	10.8692	0.46872	0.316:0.684:0.0:0.0	.	.	.	.	X	9;179	.	ENSP00000292123:Q179X	Q	+	1	0	SAFB	5592946	0.031000	0.19500	0.020000	0.16555	0.868000	0.49771	2.960000	0.49161	2.694000	0.91930	0.557000	0.71058	CAG		0.458	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			27	27	0	0	0	0	27	27				
AKT2	208	broad.mit.edu	37	19	40741920	40741920	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:40741920T>C	ENST00000392038.2	-	11	1350	c.1052A>G	c.(1051-1053)tAc>tGc	p.Y351C	AKT2_ENST00000424901.1_Missense_Mutation_p.Y351C|AKT2_ENST00000579047.1_Missense_Mutation_p.Y289C|AKT2_ENST00000311278.6_Missense_Mutation_p.Y308C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GTCCTGGTTGTAGAAGGGCAG	0.637			A		"""ovarian, pancreatic """																																	uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		0				lung(2)	2						c.(1051-1053)TAC>TGC		AKT2 kinase							92.0	82.0	85.0					19																	40741920		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40741920T>C	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1052A>G	19.37:g.40741920T>C	ENSP00000375892:p.Tyr351Cys					AKT2_uc010egs.2_Missense_Mutation_p.Y308C|AKT2_uc010egt.2_Missense_Mutation_p.Y289C|AKT2_uc010xvj.1_Missense_Mutation_p.Y289C|AKT2_uc010egu.1_Missense_Mutation_p.Y289C|AKT2_uc002one.2_Missense_Mutation_p.Y247C	p.Y351C	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		11	1314	-			351			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.1052A>G	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949437	0.53186	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.65916	-0.18;-0.18;-0.18	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	L	0.49513	1.565	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.879	D;D;P	0.91635	0.999;0.998;0.67	T	0.76836	-0.2812	10	0.72032	D	0.01	.	14.8498	0.70286	0.0:0.0:0.0:1.0	.	289;308;351	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	C	351;252;351;308;171	ENSP00000375892:Y351C;ENSP00000399532:Y351C;ENSP00000309428:Y308C	ENSP00000309428:Y308C	Y	-	2	0	AKT2	45433760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.985000	0.88162	2.156000	0.67533	0.454000	0.30748	TAC		0.637	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		12	63	0	0	0	0	12	63				
IRGC	56269	broad.mit.edu	37	19	44223073	44223073	+	Silent	SNP	G	G	A	rs543716827		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:44223073G>A	ENST00000244314.5	+	2	562	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	121	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGGCTGCCCGGCTGACAAGT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14245	0.001		0.0	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(361-363)CCG>CCA		immunity-related GTPase family, cinema							21.0	19.0	20.0					19																	44223073		2202	4298	6500	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223073G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.363G>A	19.37:g.44223073G>A							p.P121P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	510	+		Prostate(69;0.0435)	121					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.363G>A	CCDS12629.1																																																																																				0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		7	32	0	0	0	0	7	32				
OPA3	80207	broad.mit.edu	37	19	46056884	46056884	+	Missense_Mutation	SNP	G	G	A	rs553598004	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:46056884G>A	ENST00000263275.4	-	2	482	c.428C>T	c.(427-429)gCg>gTg	p.A143V	OPA3_ENST00000544371.1_Missense_Mutation_p.A90V|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	143					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CTGTGGCGGCGCCGCCTGCAC	0.726													G|||	3	0.000599042	0.0015	0.0	5008	,	,		13638	0.001		0.0	False		,,,				2504	0.0					uc002pck.3		NA																	0					0						c.(427-429)GCG>GTG		OPA3 protein isoform b							12.0	16.0	15.0					19																	46056884		2112	4176	6288	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056884G>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.428C>T	19.37:g.46056884G>A	ENSP00000263275:p.Ala143Val					OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.A90V	p.A143V	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	528	-		Ovarian(192;0.051)|all_neural(266;0.112)	143			Potential.		Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.428C>T	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577779	0.28180	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.83506	-1.71;-1.73	4.61	-3.01	0.05463	.	.	.	.	.	T	0.70081	0.3183	L	0.43923	1.385	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.52697	-0.8541	9	0.27785	T	0.31	.	3.5341	0.07788	0.3131:0.0:0.2904:0.3965	.	143	Q9H6K4	OPA3_HUMAN	V	143;90	ENSP00000263275:A143V;ENSP00000442839:A90V	ENSP00000263275:A143V	A	-	2	0	OPA3	50748724	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.494000	0.06451	-0.363000	0.08101	0.491000	0.48974	GCG		0.726	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			7	41	0	0	0	0	7	41				
SIGLEC10	89790	broad.mit.edu	37	19	51914354	51914354	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr19:51914354C>T	ENST00000339313.5	-	11	2209	c.2093G>A	c.(2092-2094)tGa>tAa	p.*698*	SIGLEC10_ENST00000441969.3_Silent_p.*545*|SIGLEC10_ENST00000356298.5_Silent_p.*698*|SIGLEC10_ENST00000525998.1_Silent_p.*513*|SIGLEC10_ENST00000439889.2_Silent_p.*640*|SIGLEC10_ENST00000442846.3_Silent_p.*455*|SIGLEC10_ENST00000353836.5_Silent_p.*603*|SIGLEC10_ENST00000436984.2_Silent_p.*555*|SIGLEC10_ENST00000432469.2_Silent_p.*520*			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	0					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AAGAGACCCTCATTGGAACTT	0.542																																						uc002pwo.2		NA																	0				skin(1)	1						c.(2092-2094)TGA>TAA		sialic acid binding Ig-like lectin 10 precursor							100.0	97.0	98.0					19																	51914354		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51914354C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.2093G>A	19.37:g.51914354C>T						SIGLEC10_uc002pwp.2_Silent_p.*640*|SIGLEC10_uc002pwq.2_Silent_p.*545*|SIGLEC10_uc002pwr.2_Silent_p.*603*|SIGLEC10_uc010ycy.1_Silent_p.*513*|SIGLEC10_uc010ycz.1_Silent_p.*555*|SIGLEC10_uc010eow.2_Silent_p.*415*	p.*698*	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	11	2709	-		all_neural(266;0.0199)	698					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.2093G>A	CCDS12832.1																																																																																				0.542	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		61	38	0	0	0	0	61	38				
RSAD2	91543	broad.mit.edu	37	2	7027109	7027109	+	Silent	SNP	C	C	T	rs111620392	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:7027109C>T	ENST00000382040.3	+	3	688	c.552C>T	c.(550-552)gaC>gaT	p.D184D	RSAD2_ENST00000541728.1_Silent_p.D77D	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACAGCTTTGACGAGGAAGTCA	0.458													C|||	17	0.00339457	0.0121	0.0014	5008	,	,		17461	0.0		0.0	False		,,,				2504	0.0					uc002qyp.1		NA																	0					0						c.(550-552)GAC>GAT		radical S-adenosyl methionine domain containing		C		27,4379	34.3+/-65.2	0,27,2176	99.0	91.0	94.0		552	-5.5	0.1	2	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	RSAD2	NM_080657.4		0,27,6476	TT,TC,CC		0.0,0.6128,0.2076		184/362	7027109	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027109C>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.552C>T	2.37:g.7027109C>T							p.D184D	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	688	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		184						Silent	SNP	ENST00000382040.3	37	c.552C>T	CCDS1656.1																																																																																				0.458	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		15	37	0	0	0	0	15	37				
FOSL2	2355	broad.mit.edu	37	2	28627022	28627022	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:28627022A>G	ENST00000264716.4	+	2	1014	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	FOSL2_ENST00000545753.1_Missense_Mutation_p.I12V|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.I26V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	51					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATCCCCACCATCAACGCCAT	0.517																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(151-153)ATC>GTC		FOS-like antigen 2							145.0	129.0	134.0					2																	28627022		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28627022A>G		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.151A>G	2.37:g.28627022A>G	ENSP00000264716:p.Ile51Val					FOSL2_uc010ymi.1_Missense_Mutation_p.I12V	p.I51V	NM_005253	NP_005244	P15408	FOSL2_HUMAN			2	960	+	Acute lymphoblastic leukemia(172;0.155)		51					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.151A>G	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	A	1.807	-0.475731	0.04414	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.11	5.11	0.69529	.	0.046894	0.85682	D	0.000000	T	0.10637	0.0260	N	0.04043	-0.29	0.43965	D	0.996645	B	0.06786	0.001	B	0.06405	0.002	T	0.18935	-1.0321	10	0.02654	T	1	-6.4484	5.5532	0.17101	0.767:0.0:0.0804:0.1526	.	51	P15408	FOSL2_HUMAN	V	26;51;12;12	ENSP00000368939:I26V;ENSP00000264716:I51V;ENSP00000396497:I12V;ENSP00000439303:I12V	ENSP00000264716:I51V	I	+	1	0	FOSL2	28480526	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	2.369000	0.44231	1.923000	0.55706	0.460000	0.39030	ATC		0.517	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		27	98	0	0	0	0	27	98				
LIMS1	3987	broad.mit.edu	37	2	109292348	109292348	+	Missense_Mutation	SNP	C	C	T	rs553785710	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:109292348C>T	ENST00000393310.1	+	6	676	c.509C>T	c.(508-510)gCc>gTc	p.A170V	LIMS1_ENST00000544547.1_Missense_Mutation_p.A182V|LIMS1_ENST00000410093.1_Missense_Mutation_p.A174V|LIMS1_ENST00000409441.1_Missense_Mutation_p.A207V|LIMS1_ENST00000332345.6_Missense_Mutation_p.A170V|LIMS1_ENST00000338045.3_Missense_Mutation_p.A170V|LIMS1_ENST00000542845.1_Missense_Mutation_p.A232V|AC010095.5_ENST00000411710.1_RNA	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	170	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAGCTGACTGCCGATGCACGG	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					uc002teg.2		NA																	0					0						c.(508-510)GCC>GTC		LIM and senescent cell antigen-like domains 1							64.0	61.0	62.0					2																	109292348		2203	4300	6503	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292348C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.509C>T	2.37:g.109292348C>T	ENSP00000376987:p.Ala170Val					LIMS1_uc002tef.2_Missense_Mutation_p.A182V|LIMS1_uc002teh.2_Missense_Mutation_p.A170V|LIMS1_uc002tei.2_Missense_Mutation_p.A170V|LIMS1_uc002tej.2_Missense_Mutation_p.A207V|LIMS1_uc002tek.3_Missense_Mutation_p.A232V	p.A170V	NM_004987	NP_004978	P48059	LIMS1_HUMAN			6	628	+			170			LIM zinc-binding 3.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.509C>T	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.029973	0.54790	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.58	5.58	0.84498	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.86793	0.6018	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.20550	0.026;0.046;0.026;0.026	B;B;B;B	0.29176	0.099;0.068;0.035;0.024	T	0.82210	-0.0570	10	0.39692	T	0.17	.	19.5729	0.95428	0.0:1.0:0.0:0.0	.	232;207;170;182	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	V	182;170;170;174;207;170;232	ENSP00000437912:A182V;ENSP00000331775:A170V;ENSP00000376987:A170V;ENSP00000386926:A174V;ENSP00000387264:A207V;ENSP00000337598:A170V;ENSP00000446121:A232V	ENSP00000331775:A170V	A	+	2	0	LIMS1	108658780	1.000000	0.71417	0.990000	0.47175	0.358000	0.29455	7.814000	0.86154	2.630000	0.89119	0.462000	0.41574	GCC		0.527	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		4	93	0	0	0	0	4	93				
CNTNAP5	129684	broad.mit.edu	37	2	125282021	125282021	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:125282021A>G	ENST00000431078.1	+	9	1830	c.1466A>G	c.(1465-1467)tAt>tGt	p.Y489C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	489	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATAGCTACTATTTTGGAGGT	0.448																																						uc002tno.2		NA																	0				ovary(10)	10						c.(1465-1467)TAT>TGT		contactin associated protein-like 5 precursor							35.0	36.0	36.0					2																	125282021		1859	4114	5973	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125282021A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1466A>G	2.37:g.125282021A>G	ENSP00000399013:p.Tyr489Cys					CNTNAP5_uc010flu.2_Missense_Mutation_p.Y490C	p.Y489C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1830	+			489			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1466A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704956	0.68615	.	.	ENSG00000155052	ENST00000431078	T	0.81163	-1.46	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46145	D	0.000301	D	0.90689	0.7079	M	0.87097	2.86	0.51233	D	0.999915	D	0.89917	1.0	D	0.71414	0.973	D	0.92122	0.5705	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	489	Q8WYK1	CNTP5_HUMAN	C	489	ENSP00000399013:Y489C	ENSP00000399013:Y489C	Y	+	2	0	CNTNAP5	124998491	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.781000	0.55394	2.324000	0.78689	0.533000	0.62120	TAT		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			16	19	0	0	0	0	16	19				
IWS1	55677	broad.mit.edu	37	2	128255753	128255753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:128255753C>T	ENST00000295321.4	-	6	1787	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Intron	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	510					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GAATCTGAATCTTCTGCTTCT	0.303																																						uc002ton.2		NA																	0				ovary(1)	1						c.(1528-1530)GAT>AAT		IWS1 homolog							190.0	195.0	193.0					2																	128255753		2202	4299	6501	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128255753C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1528G>A	2.37:g.128255753C>T	ENSP00000295321:p.Asp510Asn					IWS1_uc010yzl.1_Intron	p.D510N	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	6	1831	-	Colorectal(110;0.1)		510					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1528G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852387	0.91355	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.16597	2.33	5.69	5.69	0.88448	.	0.104308	0.64402	D	0.000004	T	0.32164	0.0820	L	0.53249	1.67	0.80722	D	1	D	0.58620	0.983	P	0.55923	0.787	T	0.00351	-1.1796	10	0.32370	T	0.25	-27.8898	17.9972	0.89187	0.0:1.0:0.0:0.0	.	510	Q96ST2	IWS1_HUMAN	N	510;463	ENSP00000295321:D510N	ENSP00000295321:D510N	D	-	1	0	IWS1	127972223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.131000	0.71670	2.685000	0.91497	0.557000	0.71058	GAT		0.303	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		34	44	0	0	0	0	34	44				
LCT	3938	broad.mit.edu	37	2	136575285	136575285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:136575285C>T	ENST00000264162.2	-	6	1343	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	445	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G445S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCCCGGAGGCCGCAAAGCAGG	0.642																																						uc002tuu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1333-1335)GGC>AGC		lactase-phlorizin hydrolase preproprotein							69.0	65.0	66.0					2																	136575285		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575285C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1333G>A	2.37:g.136575285C>T	ENSP00000264162:p.Gly445Ser						p.G445S	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1344	-			445			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1333G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271003	0.95429	.	.	ENSG00000115850	ENST00000264162	T	0.49432	0.78	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052557	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21508	0.67	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.47114	-0.9142	10	0.23302	T	0.38	-15.8411	20.3627	0.98863	0.0:1.0:0.0:0.0	.	445	P09848	LPH_HUMAN	S	445	ENSP00000264162:G445S	ENSP00000264162:G445S	G	-	1	0	LCT	136291755	1.000000	0.71417	0.832000	0.32986	0.988000	0.76386	6.053000	0.71089	2.885000	0.99019	0.655000	0.94253	GGC		0.642	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		33	81	0	0	0	0	33	81				
KIF5C	3800	broad.mit.edu	37	2	149868101	149868101	+	Missense_Mutation	SNP	G	G	A	rs372092875		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:149868101G>A	ENST00000435030.1	+	25	3153	c.2785G>A	c.(2785-2787)Gga>Aga	p.G929R	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.G834R|KIF5C_ENST00000397413.1_Missense_Mutation_p.G697R			O60282	KIF5C_HUMAN	kinesin family member 5C	929	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCCGCCCCGGACACTACCC	0.498																																						uc010zbu.1		NA																	0				skin(1)	1						c.(2785-2787)GGA>AGA		kinesin family member 5C		G	ARG/GLY	0,3738		0,0,1869	54.0	55.0	55.0		2496	6.1	1.0	2		55	1,8213		0,1,4106	no	missense	KIF5C	NM_004522.1	125	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	benign	929/958	149868101	1,11951	1869	4107	5976	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149868101G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2785G>A	2.37:g.149868101G>A	ENSP00000393379:p.Gly929Arg					KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.G211R	p.G929R	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	25	3153	+			929			Globular.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2785G>A		.	.	.	.	.	.	.	.	.	.	G	29.7	5.029614	0.93518	0.0	1.22E-4	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;D;D	0.83163	-1.31;-1.66;-1.69	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	.	.	.	0.80722	D	1	P;D	0.76494	0.877;0.999	B;D	0.65233	0.308;0.933	D	0.89728	0.3924	8	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	929;237	O60282;Q59GB8	KIF5C_HUMAN;.	R	929;834;832;697	ENSP00000393379:G929R;ENSP00000410115:G834R;ENSP00000380560:G697R	.	G	+	1	0	KIF5C	149576347	1.000000	0.71417	0.985000	0.45067	0.708000	0.40852	9.624000	0.98398	2.884000	0.98904	0.655000	0.94253	GGA		0.498	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		4	82	0	0	0	0	4	82				
HECW2	57520	broad.mit.edu	37	2	197182030	197182030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:197182030C>T	ENST00000260983.3	-	10	2584	c.2402G>A	c.(2401-2403)cGg>cAg	p.R801Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R445Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	801	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTGGTACCGGCTAACATC	0.517																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2401-2403)CGG>CAG		HECT, C2 and WW domain containing E3 ubiquitin							87.0	75.0	79.0					2																	197182030		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197182030C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2402G>A	2.37:g.197182030C>T	ENSP00000260983:p.Arg801Gln					HECW2_uc002utl.1_Missense_Mutation_p.R445Q	p.R801Q	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			10	2585	-			801			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2402G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946642	0.73672	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.33216	1.42;1.46	5.84	5.84	0.93424	WW/Rsp5/WWP (1);	0.353125	0.27851	N	0.017584	T	0.33818	0.0876	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.53006	0.715	T	0.01205	-1.1419	10	0.28530	T	0.3	.	13.3588	0.60644	0.0:0.9284:0.0:0.0716	.	801	Q9P2P5	HECW2_HUMAN	Q	445;801	ENSP00000386775:R445Q;ENSP00000260983:R801Q	ENSP00000260983:R801Q	R	-	2	0	HECW2	196890275	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	5.603000	0.67619	2.771000	0.95319	0.655000	0.94253	CGG		0.517	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		6	14	0	0	0	0	6	14				
FARSB	10056	broad.mit.edu	37	2	223520788	223520788	+	Missense_Mutation	SNP	G	G	A	rs538600753		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:223520788G>A	ENST00000281828.6	-	1	268	c.5C>T	c.(4-6)cCg>cTg	p.P2L	FARSB_ENST00000536361.1_5'Flank	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	2					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCTGACAGTCGGCATGGTGTG	0.627																																						uc002vne.1		NA																	0				ovary(1)	1						c.(4-6)CCG>CTG		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)																																			SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223520788G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.5C>T	2.37:g.223520788G>A	ENSP00000281828:p.Pro2Leu					FARSB_uc010zlq.1_Missense_Mutation_p.P2L|FARSB_uc002vnf.1_5'UTR|FARSB_uc002vng.1_RNA	p.P2L	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	1	40	-		Renal(207;0.0183)	2					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.5C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824304	0.90955	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89293	0.3620	9	0.87932	D	0	-11.6657	14.245	0.65983	0.0:0.0:1.0:0.0	.	2;2	A8K666;Q9NSD9	.;SYFB_HUMAN	L	2	.	ENSP00000281828:P2L	P	-	2	0	FARSB	223229032	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.848000	0.69458	2.746000	0.94184	0.655000	0.94253	CCG		0.627	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		10	6	0	0	0	0	10	6				
NEU2	4759	broad.mit.edu	37	2	233899356	233899356	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:233899356C>T	ENST00000233840.3	+	2	732	c.732C>T	c.(730-732)gtC>gtT	p.V244V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	244					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GAGCCAGGGTCCAGGCCCAGA	0.652																																						uc010zmn.1		NA																	0					0						c.(730-732)GTC>GTT		neuraminidase 2							32.0	33.0	33.0					2																	233899356		2203	4299	6502	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899356C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.732C>T	2.37:g.233899356C>T							p.V244V	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	732	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	244					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.732C>T	CCDS2501.1																																																																																				0.652	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		18	52	0	0	0	0	18	52				
PLCB4	5332	broad.mit.edu	37	20	9360788	9360788	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:9360788G>C	ENST00000378493.1	+	10	847	c.832G>C	c.(832-834)Gat>Cat	p.D278H	PLCB4_ENST00000378501.2_Missense_Mutation_p.D278H|PLCB4_ENST00000278655.4_Missense_Mutation_p.D278H|PLCB4_ENST00000334005.3_Missense_Mutation_p.D278H|PLCB4_ENST00000414679.2_Missense_Mutation_p.D278H|PLCB4_ENST00000378473.3_Missense_Mutation_p.D278H|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	278					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTATGAACCTGATGAAGATTT	0.294																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(832-834)GAT>CAT		phospholipase C beta 4 isoform b							56.0	53.0	54.0					20																	9360788		2203	4296	6499	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360788G>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.832G>C	20.37:g.9360788G>C	ENSP00000367754:p.Asp278His					PLCB4_uc010gbw.1_Missense_Mutation_p.D278H|PLCB4_uc010gbx.2_Missense_Mutation_p.D278H|PLCB4_uc002wne.2_Missense_Mutation_p.D278H|PLCB4_uc002wnh.2_Missense_Mutation_p.D125H	p.D278H	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			12	968	+			278					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.832G>C	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413367	0.83449	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.048246	0.85682	D	0.000000	T	0.71592	0.3358	M	0.78049	2.395	0.80722	D	1	P;P;D;B	0.89917	0.824;0.504;1.0;0.367	P;B;D;P	0.87578	0.743;0.318;0.998;0.603	T	0.74250	-0.3726	10	0.72032	D	0.01	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	278;125;278;278	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	H	278;278;278;278;278;114	ENSP00000334105:D278H;ENSP00000367734:D278H;ENSP00000278655:D278H;ENSP00000367754:D278H;ENSP00000367762:D278H;ENSP00000390616:D114H	ENSP00000278655:D278H	D	+	1	0	PLCB4	9308788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.696000	0.92011	0.650000	0.86243	GAT		0.294	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			8	24	0	0	0	0	8	24				
KIF16B	55614	broad.mit.edu	37	20	16360188	16360188	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:16360188T>C	ENST00000354981.2	-	19	2616	c.2459A>G	c.(2458-2460)aAg>aGg	p.K820R	KIF16B_ENST00000355755.3_Missense_Mutation_p.K820R|KIF16B_ENST00000408042.1_Missense_Mutation_p.K820R|KIF16B_ENST00000378003.2_Missense_Mutation_p.K46R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	820	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAGTTGAGCCTTTTCTAACTC	0.517																																						uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2458-2460)AAG>AGG		kinesin-like motor protein C20orf23							61.0	61.0	61.0					20																	16360188		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360188T>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2459A>G	20.37:g.16360188T>C	ENSP00000347076:p.Lys820Arg					KIF16B_uc002wpe.1_Missense_Mutation_p.K202R|KIF16B_uc002wpf.1_Missense_Mutation_p.K202R|KIF16B_uc010gch.1_Missense_Mutation_p.K820R|KIF16B_uc010gci.1_Missense_Mutation_p.K820R|KIF16B_uc010gcj.1_Missense_Mutation_p.K831R	p.K820R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2617	-			820			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2459A>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	4.912	0.169531	0.09339	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000378003;ENST00000408042	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.42	-0.841	0.10752	.	0.844149	0.10402	N	0.678998	T	0.04724	0.0128	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.41413	-0.9510	10	0.05833	T	0.94	.	5.6473	0.17596	0.0:0.2857:0.1355:0.5788	.	820;820;820;820	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	820;820;46;820	ENSP00000347076:K820R;ENSP00000347995:K820R;ENSP00000367242:K46R;ENSP00000384164:K820R	ENSP00000347076:K820R	K	-	2	0	KIF16B	16308188	0.000000	0.05858	0.002000	0.10522	0.664000	0.39144	0.072000	0.14617	-0.393000	0.07739	0.477000	0.44152	AAG		0.517	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		3	87	0	0	0	0	3	87				
TAF4	6874	broad.mit.edu	37	20	60584189	60584189	+	Silent	SNP	A	A	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:60584189A>T	ENST00000252996.4	-	5	1802	c.1803T>A	c.(1801-1803)tcT>tcA	p.S601S	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	601	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTATTAACGTAGATAGGAAAT	0.353																																						uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1801-1803)TCT>TCA		TBP-associated factor 4							92.0	93.0	93.0					20																	60584189		2203	4300	6503	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60584189A>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1803T>A	20.37:g.60584189A>T							p.S601S	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		5	1803	-	Breast(26;1e-08)		601			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.1803T>A	CCDS33500.1																																																																																				0.353	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		19	49	0	0	0	0	19	49				
SUSD5	26032	broad.mit.edu	37	3	33195134	33195134	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:33195134G>A	ENST00000309558.3	-	5	1407	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	330					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTCACCTGGGACCAATTTTA	0.517																																						uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(988-990)GTC>GTT		sushi domain containing 5 precursor							56.0	56.0	56.0					3																	33195134		2006	4183	6189	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195134G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.990C>T	3.37:g.33195134G>A							p.V330V	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1408	-			330			Extracellular (Potential).			Silent	SNP	ENST00000309558.3	37	c.990C>T	CCDS46787.1																																																																																				0.517	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		17	12	0	0	0	0	17	12				
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						uc003cwu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(118-120)GAG>CAG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						157.0	147.0	150.0					3																	49412905		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412905C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln					RHOA_uc010hku.2_5'UTR	p.E40Q	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	394	-			40			Effector region (Potential).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.118G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		87	46	0	0	0	0	87	46				
MAPKAPK3	7867	broad.mit.edu	37	3	50683618	50683618	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:50683618C>T	ENST00000446044.1	+	10	1348	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.S251F	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CAGGCCATCTCCCCGGGGATG	0.597																																						uc003day.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(751-753)TCC>TTC		mitogen-activated protein kinase-activated							127.0	129.0	129.0					3																	50683618		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50683618C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.752C>T	3.37:g.50683618C>T	ENSP00000396467:p.Ser251Phe					MAPKAPK3_uc003daz.1_Missense_Mutation_p.S251F|MAPKAPK3_uc003dba.1_Missense_Mutation_p.S251F|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.S251F	p.S251F	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	10	1348	+			251			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.752C>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159054	0.94686	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.46819	0.86;0.86;0.86	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60677	-0.7216	10	0.54805	T	0.06	-29.052	18.4927	0.90853	0.0:1.0:0.0:0.0	.	251	Q16644	MAPK3_HUMAN	F	251	ENSP00000396467:S251F;ENSP00000410970:S251F;ENSP00000350639:S251F	ENSP00000350639:S251F	S	+	2	0	MAPKAPK3	50658622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.697000	0.92050	0.563000	0.77884	TCC		0.597	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		94	58	0	0	0	0	94	58				
CCDC66	285331	broad.mit.edu	37	3	56651600	56651600	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:56651600G>A	ENST00000394672.3	+	14	2374	c.2304G>A	c.(2302-2304)acG>acA	p.T768T	CCDC66_ENST00000436465.2_Silent_p.T768T|CCDC66_ENST00000326595.7_Silent_p.T734T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	768					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCAAGAAACGGAGTCAAAGT	0.378																																						uc003dhz.2		NA																	0				breast(1)	1						c.(2302-2304)ACG>ACA		coiled-coil domain containing 66 isoform 1							55.0	55.0	55.0					3																	56651600		2203	4299	6502	SO:0001819	synonymous_variant	285331							g.chr3:56651600G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2304G>A	3.37:g.56651600G>A						CCDC66_uc003dhy.2_Silent_p.T404T|CCDC66_uc003dhu.2_Silent_p.T734T|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Silent_p.T136T	p.T768T	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	14	2391	+			768					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.2304G>A	CCDS46852.1																																																																																				0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		10	15	0	0	0	0	10	15				
CNTN3	5067	broad.mit.edu	37	3	74315641	74315641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:74315641G>A	ENST00000263665.6	-	21	3004	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	993	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTTATTCGTGGAATCCTG	0.428																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(2977-2979)CGA>TGA		contactin 3 precursor							295.0	275.0	282.0					3																	74315641		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315641G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2977C>T	3.37:g.74315641G>A	ENSP00000263665:p.Arg993*						p.R993*	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	3057	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	993					B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.2977C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	41	8.859143	0.98980	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.42	1.68	0.24146	.	0.095905	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4004	0.32583	0.0:0.0738:0.4419:0.4842	.	.	.	.	X	993	.	ENSP00000263665:R993X	R	-	1	2	CNTN3	74398331	0.688000	0.27680	1.000000	0.80357	0.995000	0.86356	2.203000	0.42752	0.398000	0.25338	0.655000	0.94253	CGA		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		89	67	0	0	0	0	89	67				
GRAMD1C	54762	broad.mit.edu	37	3	113659107	113659107	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:113659107C>G	ENST00000358160.4	+	17	2315	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.S403*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.S441*|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.S337*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	608						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GATATGGTGTCAAGAGCAGAA	0.408																																						uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(1822-1824)TCA>TGA		GRAM domain containing 1C							123.0	128.0	126.0					3																	113659107		2203	4300	6503	SO:0001587	stop_gained	54762					integral to membrane		g.chr3:113659107C>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1823C>G	3.37:g.113659107C>G	ENSP00000350881:p.Ser608*					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Nonsense_Mutation_p.S441*|GRAMD1C_uc003eas.2_Nonsense_Mutation_p.S403*|GRAMD1C_uc003eat.2_Nonsense_Mutation_p.S267*	p.S608*	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			17	1899	+			608					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Nonsense_Mutation	SNP	ENST00000358160.4	37	c.1823C>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	37	6.072537	0.97256	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	.	.	.	5.87	4.99	0.66335	.	0.530450	0.19041	N	0.124293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	9.4032	0.38447	0.0:0.7786:0.1447:0.0767	.	.	.	.	X	608;337;441;403	.	ENSP00000350881:S608X	S	+	2	0	GRAMD1C	115141797	0.990000	0.36364	0.298000	0.25002	0.080000	0.17528	3.294000	0.51787	1.485000	0.48380	0.650000	0.86243	TCA		0.408	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		53	169	0	0	0	0	53	169				
SI	6476	broad.mit.edu	37	3	164777066	164777066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:164777066C>G	ENST00000264382.3	-	11	1230	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	390	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCATGTAGTCAATATCAGTG	0.358										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1168-1170)GAC>CAC		sucrase-isomaltase	Acarbose(DB00284)						129.0	118.0	122.0					3																	164777066		2202	4299	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777066C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1168G>C	3.37:g.164777066C>G	ENSP00000264382:p.Asp390His	HNSCC(35;0.089)					p.D390H	NM_001041	NP_001032	P14410	SUIS_HUMAN			11	1230	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	390			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1168G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667478	0.88348	.	.	ENSG00000090402	ENST00000264382	D	0.93019	-3.15	5.78	5.78	0.91487	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97642	1.0149	10	0.87932	D	0	.	20.0165	0.97478	0.0:1.0:0.0:0.0	.	390	P14410	SUIS_HUMAN	H	390	ENSP00000264382:D390H	ENSP00000264382:D390H	D	-	1	0	SI	166259760	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.403000	0.79983	2.736000	0.93811	0.557000	0.71058	GAC		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	52	0	0	0	0	7	52				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	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.chr3:178952085A>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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			49	24	0	0	0	0	49	24				
TP63	8626	broad.mit.edu	37	3	189349311	189349311	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:189349311T>C	ENST00000264731.3	+	1	96	c.7T>C	c.(7-9)Ttt>Ctt	p.F3L	TP63_ENST00000320472.5_Missense_Mutation_p.F3L|TP63_ENST00000392460.3_Missense_Mutation_p.F3L|TP63_ENST00000382063.4_Missense_Mutation_p.F3L|TP63_ENST00000418709.2_Missense_Mutation_p.F3L|TP63_ENST00000440651.2_Missense_Mutation_p.F3L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	3	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGAAATGAATTTTGAAACTTC	0.378										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(7-9)TTT>CTT		tumor protein p63 isoform 1							156.0	147.0	150.0					3																	189349311		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349311T>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.7T>C	3.37:g.189349311T>C	ENSP00000264731:p.Phe3Leu	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.F3L|TP63_uc003frz.2_Missense_Mutation_p.F3L|TP63_uc010hzc.1_Missense_Mutation_p.F3L	p.F3L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	96	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		3			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.7T>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071625	0.36566	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99656	-5.86;-6.18;-6.11;-6.1;-5.86;-6.31	5.72	4.51	0.55191	.	0.221701	0.36066	N	0.002814	D	0.97056	0.9038	N	0.08118	0	0.80722	D	1	B;B;B;B	0.19200	0.004;0.02;0.034;0.001	B;B;B;B	0.18871	0.008;0.023;0.01;0.008	D	0.97067	0.9775	9	.	.	.	-0.2224	13.4744	0.61299	0.0:0.0:0.1388:0.8612	.	3;3;3;3	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	3	ENSP00000264731:F3L;ENSP00000407144:F3L;ENSP00000317510:F3L;ENSP00000376253:F3L;ENSP00000394337:F3L;ENSP00000371495:F3L	.	F	+	1	0	TP63	190832005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.038000	0.49783	2.177000	0.69029	0.533000	0.62120	TTT		0.378	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		73	70	0	0	0	0	73	70				
MB21D2	151963	broad.mit.edu	37	3	192516654	192516654	+	Silent	SNP	G	G	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr3:192516654G>T	ENST00000392452.2	-	2	1317	c.997C>A	c.(997-999)Cgg>Agg	p.R333R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	333							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ATCATGCTCCGCAGGTGATAG	0.552																																						uc011bsp.1		NA																	0					0						c.(997-999)CGG>AGG		hypothetical protein LOC151963							49.0	49.0	49.0					3																	192516654		2203	4300	6503	SO:0001819	synonymous_variant	151963							g.chr3:192516654G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.997C>A	3.37:g.192516654G>T							p.R333R	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1318	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		333					Q86VD8	Silent	SNP	ENST00000392452.2	37	c.997C>A	CCDS3302.2																																																																																				0.552	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		28	82	1	0	9.04e-07	1.06e-06	28	82				
KIAA1211	57482	broad.mit.edu	37	4	57182124	57182124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:57182124C>T	ENST00000504228.1	+	6	2561	c.2456C>T	c.(2455-2457)tCg>tTg	p.S819L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S819L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S812L			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCACGACCTCGTCGGACAGC	0.537																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2455-2457)TCG>TTG		hypothetical protein LOC57482							87.0	93.0	91.0					4																	57182124		2062	4209	6271	SO:0001583	missense	57482							g.chr4:57182124C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2456C>T	4.37:g.57182124C>T	ENSP00000423366:p.Ser819Leu					KIAA1211_uc010iha.2_Missense_Mutation_p.S812L|KIAA1211_uc011bzz.1_Missense_Mutation_p.S729L|KIAA1211_uc003hbm.1_Missense_Mutation_p.S705L	p.S819L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2847	+	Glioma(25;0.08)|all_neural(26;0.101)		819					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2456C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881375	0.33255	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11712	2.75;2.75;2.75	4.97	1.36	0.22044	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	P;P;B	0.43477	0.711;0.808;0.006	B;B;B	0.29785	0.107;0.107;0.001	T	0.35773	-0.9775	9	0.49607	T	0.09	2.9159	4.2333	0.10613	0.2346:0.4822:0.0:0.2832	.	812;812;819	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	L	819;819;812;729	ENSP00000264229:S819L;ENSP00000423366:S819L;ENSP00000444006:S812L	ENSP00000264229:S819L	S	+	2	0	KIAA1211	56876881	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.065000	0.11617	0.037000	0.15575	0.561000	0.74099	TCG		0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		25	54	0	0	0	0	25	54				
AFM	173	broad.mit.edu	37	4	74351714	74351714	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:74351714C>T	ENST00000226355.3	+	4	499	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	136	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGGATTTCTGCCTCCTTT	0.398																																						uc003hhb.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(406-408)CTG>TTG		afamin precursor							103.0	104.0	104.0					4																	74351714		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74351714C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.406C>T	4.37:g.74351714C>T							p.L136L	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	437	+	Breast(15;0.00102)		136			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.406C>T	CCDS3557.1																																																																																				0.398	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			16	39	0	0	0	0	16	39				
ENPEP	2028	broad.mit.edu	37	4	111397714	111397714	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:111397714C>T	ENST00000265162.5	+	1	486	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	48					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CCAGCGGGGACGGCGGGCCGG	0.637																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(142-144)GAC>GAT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						154.0	148.0	150.0					4																	111397714		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397714C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.144C>T	4.37:g.111397714C>T							p.D48D	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	486	+		Hepatocellular(203;0.217)	48			Extracellular (Potential).		Q504U2	Silent	SNP	ENST00000265162.5	37	c.144C>T	CCDS3691.1																																																																																				0.637	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	110	0	0	0	0	15	110				
MTNR1A	4543	broad.mit.edu	37	4	187454891	187454891	+	Silent	SNP	C	C	T	rs192370764	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr4:187454891C>T	ENST00000307161.5	-	2	1206	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	335					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCAGTGGAGACGGTTTCCATT	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		21204	0.002		0.0	False		,,,				2504	0.0					uc003izd.1		NA																	0				ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1003-1005)CCG>CCA		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						135.0	132.0	133.0					4																	187454891		2203	4300	6503	SO:0001819	synonymous_variant	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187454891C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.1005G>A	4.37:g.187454891C>T							p.P335P	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	1023	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	335			Cytoplasmic (Potential).		A0AVC5|B0M0L2	Silent	SNP	ENST00000307161.5	37	c.1005G>A	CCDS3848.1																																																																																				0.493	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			24	68	0	0	0	0	24	68				
TRIP13	9319	broad.mit.edu	37	5	908535	908535	+	Silent	SNP	C	C	T	rs146441673		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:908535C>T	ENST00000166345.3	+	9	1181	c.825C>T	c.(823-825)cgC>cgT	p.R275R		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	275					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATGCCATCCGCGTGGTCAATG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19320	0.001		0.0	False		,,,				2504	0.0					uc003jbr.2		NA																	0					0						c.(823-825)CGC>CGT		thyroid hormone receptor interactor 13		C	,	0,4406		0,0,2203	80.0	81.0	81.0		825,825	-11.9	0.2	5	dbSNP_134	81	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TRIP13	NM_001166260.1,NM_004237.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	275/290,275/433	908535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908535C>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.825C>T	5.37:g.908535C>T						TRIP13_uc010ite.1_Silent_p.R275R	p.R275R	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		9	935	+			275					C9K0T3|D3DTC0|O15324	Silent	SNP	ENST00000166345.3	37	c.825C>T	CCDS3858.1																																																																																				0.522	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		22	65	0	0	0	0	22	65				
MTRR	4552	broad.mit.edu	37	5	7870928	7870928	+	Silent	SNP	A	A	G	rs114427781	byFrequency	TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:7870928A>G	ENST00000264668.2	+	2	132	c.102A>G	c.(100-102)ctA>ctG	p.L34L	MTRR_ENST00000341013.6_Silent_p.L7L|MTRR_ENST00000440940.2_Silent_p.L7L|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000264669.5_5'Flank|FASTKD3_ENST00000513658.1_5'Flank	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	34	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.L34L(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTCTGTTACTATATGCTACAC	0.403													A|||	4	0.000798722	0.0	0.0	5008	,	,		18829	0.004		0.0	False		,,,				2504	0.0					uc003jed.2		NA																	1	Substitution - coding silent(1)		stomach(1)	ovary(1)	1						c.(100-102)CTA>CTG		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						139.0	126.0	130.0					5																	7870928		2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7870928A>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.102A>G	5.37:g.7870928A>G						FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Silent_p.L7L|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.L34L	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			2	132	+			34			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.102A>G	CCDS3874.1																																																																																				0.403	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			24	30	0	0	0	0	24	30				
MAP1B	4131	broad.mit.edu	37	5	71494372	71494372	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:71494372G>A	ENST00000296755.7	+	5	5488	c.5190G>A	c.(5188-5190)ccG>ccA	p.P1730P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1730					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGCCTCCCCGTCCACCTCTT	0.483																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5188-5190)CCG>CCA		microtubule-associated protein 1B							158.0	162.0	161.0					5																	71494372		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494372G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5190G>A	5.37:g.71494372G>A						MAP1B_uc010iyw.1_Silent_p.P1747P|MAP1B_uc010iyx.1_Silent_p.P1604P|MAP1B_uc010iyy.1_Silent_p.P1604P	p.P1730P	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5431	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1730					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5190G>A	CCDS4012.1																																																																																				0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		84	121	0	0	0	0	84	121				
PDE8B	8622	broad.mit.edu	37	5	76704787	76704787	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:76704787C>G	ENST00000264917.5	+	14	1480	c.1435C>G	c.(1435-1437)Cta>Gta	p.L479V	PDE8B_ENST00000340978.3_Missense_Mutation_p.L432V|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.L459V|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000346042.3_Missense_Mutation_p.L382V	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	479					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGACAGAGTTCTAGAGATTTT	0.463																																						uc003kfa.2		NA																	0					0						c.(1435-1437)CTA>GTA		phosphodiesterase 8B isoform 1							113.0	108.0	109.0					5																	76704787		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76704787C>G	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1435C>G	5.37:g.76704787C>G	ENSP00000264917:p.Leu479Val					PDE8B_uc003kfb.2_Missense_Mutation_p.L459V|PDE8B_uc003kfc.2_Intron|PDE8B_uc003kfd.2_Missense_Mutation_p.L432V|PDE8B_uc003kfe.2_Missense_Mutation_p.L382V	p.L479V	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	14	1480	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	479					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1435C>G	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764833	0.49574	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343	T;T;T;T	0.71698	-0.59;-0.58;-0.59;-0.59	4.48	2.13	0.27403	.	0.196701	0.38436	N	0.001688	T	0.76849	0.4045	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.69078	0.987;0.997;0.997;0.995	D;D;D;P	0.64042	0.921;0.919;0.919;0.831	T	0.75277	-0.3374	10	0.54805	T	0.06	.	7.0848	0.25252	0.0:0.5902:0.0:0.4098	.	382;432;459;479	O95263-2;O95263-6;O95263-4;O95263	.;.;.;PDE8B_HUMAN	V	432;382;479;459	ENSP00000345446:L432V;ENSP00000330428:L382V;ENSP00000264917:L479V;ENSP00000345646:L459V	ENSP00000264917:L479V	L	+	1	2	PDE8B	76740543	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	0.294000	0.19047	0.858000	0.35431	0.561000	0.74099	CTA		0.463	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		12	38	0	0	0	0	12	38				
PCDHB4	56131	broad.mit.edu	37	5	140503125	140503125	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:140503125C>T	ENST00000194152.1	+	1	1545	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.697																																						uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1543-1545)CTC>CTT		protocadherin beta 4 precursor							55.0	62.0	60.0					5																	140503125		2197	4280	6477	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503125C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1545C>T	5.37:g.140503125C>T							p.L515L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1545	+			515			Cadherin 5.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1545C>T	CCDS4246.1																																																																																				0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		52	121	0	0	0	0	52	121				
PCDHGA2	56113	broad.mit.edu	37	5	140718650	140718650	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:140718650G>C	ENST00000394576.2	+	1	112	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCGGGAAGAGATCGACAG	0.597											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(112-114)GAG>CAG		protocadherin gamma subfamily A, 2 isoform 1							72.0	72.0	72.0					5																	140718650		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140718650G>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.112G>C	5.37:g.140718650G>C	ENSP00000378077:p.Glu38Gln		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E38Q	p.E38Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	297	+			38			Cadherin 1.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.112G>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.251341	0.59212	.	.	ENSG00000081853	ENST00000394576	T	0.60040	0.22	5.07	5.07	0.68467	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41605	U	0.000860	D	0.88396	0.6425	H	0.99922	4.955	0.37232	D	0.905738	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95221	0.8334	10	0.87932	D	0	.	18.4118	0.90554	0.0:0.0:1.0:0.0	.	38;38	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	38	ENSP00000378077:E38Q	ENSP00000378077:E38Q	E	+	1	0	PCDHGA2	140698834	1.000000	0.71417	0.908000	0.35775	0.051000	0.14879	9.784000	0.99039	2.520000	0.84964	0.585000	0.79938	GAG		0.597	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		28	57	0	0	0	0	28	57				
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:145851118C>T	ENST00000296702.5	+	9	1618	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(1579-1581)GCT>GTT		transcription elongation regulator 1 isoform 1							124.0	124.0	124.0					5																	145851118		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851118C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1580C>T	5.37:g.145851118C>T	ENSP00000296702:p.Ala527Val					TCERG1_uc003loc.2_Missense_Mutation_p.A506V|TCERG1_uc011dbt.1_Missense_Mutation_p.A506V	p.A527V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1620	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	527					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1580C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442372	0.63067	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.41758	0.99;0.99	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30070	0.0753	N	0.03608	-0.345	0.28743	N	0.90185	P;B;B	0.48998	0.918;0.113;0.041	P;B;B	0.46110	0.504;0.113;0.004	T	0.22626	-1.0211	10	0.42905	T	0.14	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	527;506	ENSP00000296702:A527V;ENSP00000377943:A506V	ENSP00000296702:A527V	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT		0.423	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		16	38	0	0	0	0	16	38				
PDGFRB	5159	broad.mit.edu	37	5	149514571	149514571	+	Missense_Mutation	SNP	C	C	T	rs540587683		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr5:149514571C>T	ENST00000261799.4	-	4	842	c.373G>A	c.(373-375)Gtg>Atg	p.V125M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	125					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)	AGGAAGCCCACGGTGGGATCT	0.522			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20487	0.0		0.0	False		,,,				2504	0.0					uc003lro.2		NA		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				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(373-375)GTG>ATG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						63.0	66.0	65.0					5																	149514571		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.chr5:149514571C>T	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.373G>A	5.37:g.149514571C>T	ENSP00000261799:p.Val125Met					PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.V125M	p.V125M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	842	-		all_hematologic(541;0.224)	125			Extracellular (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.373G>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	7.348	0.622218	0.14193	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.24350	1.86;1.86;1.86	5.6	-9.48	0.00591	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);	0.745998	0.12726	N	0.444303	T	0.07593	0.0191	N	0.20807	0.61	0.09310	N	1	P;B	0.36315	0.547;0.302	B;B	0.16722	0.011;0.016	T	0.20075	-1.0286	10	0.20519	T	0.43	.	6.6726	0.23076	0.1013:0.097:0.1236:0.6781	.	125;125	B5A957;P09619	.;PGFRB_HUMAN	M	125;61;125	ENSP00000261799:V125M;ENSP00000429218:V61M;ENSP00000430715:V125M	ENSP00000261799:V125M	V	-	1	0	PDGFRB	149494764	0.000000	0.05858	0.003000	0.11579	0.154000	0.21943	-2.569000	0.00915	-1.349000	0.02202	-1.110000	0.02074	GTG		0.522	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		41	33	0	0	0	0	41	33				
HIST1H2AD	3013	broad.mit.edu	37	6	26199448	26199448	+	Silent	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:26199448G>A	ENST00000341023.1	-	1	23	c.24C>T	c.(22-24)ggC>ggT	p.G8G	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR|HIST1H3D_ENST00000356476.2_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	8						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGGCCTTTCCGCCTTGCTTGC	0.507																																						uc003ngw.2		NA																	0					0						c.(22-24)GGC>GGT		histone cluster 1, H2ad							21.0	25.0	23.0					6																	26199448		2203	4300	6503	SO:0001819	synonymous_variant	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199448G>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.24C>T	6.37:g.26199448G>A						HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.G8G	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	24	-		all_hematologic(11;0.196)	8					A0PK91|P57754|Q6FGY6	Silent	SNP	ENST00000341023.1	37	c.24C>T	CCDS4591.1																																																																																				0.507	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		12	29	0	0	0	0	12	29				
HIST1H2AL	8332	broad.mit.edu	37	6	27833460	27833460	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:27833460C>A	ENST00000357320.2	+	1	427	c.328C>A	c.(328-330)Ccc>Acc	p.P110T		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	110						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						TGGTGTCCTGCCCAACATCCA	0.552																																						uc003njw.2		NA																	0					0						c.(328-330)CCC>ACC		histone cluster 1, H2al							121.0	116.0	118.0					6																	27833460		2203	4300	6503	SO:0001583	missense	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833460C>A	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.328C>A	6.37:g.27833460C>A	ENSP00000349873:p.Pro110Thr						p.P110T	NM_003511	NP_003502	P0C0S8	H2A1_HUMAN			1	354	+			110					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000357320.2	37	c.328C>A	CCDS4634.1	.	.	.	.	.	.	.	.	.	.	.	17.04	3.288370	0.59976	.	.	ENSG00000198374	ENST00000357320	T	0.59772	0.24	4.2	4.2	0.49525	.	0.000000	0.30791	U	0.008861	T	0.65995	0.2745	.	.	.	0.43287	D	0.995264	.	.	.	.	.	.	T	0.72584	-0.4249	7	0.87932	D	0	.	15.9071	0.79439	0.0:1.0:0.0:0.0	.	.	.	.	T	110	ENSP00000349873:P110T	ENSP00000349873:P110T	P	+	1	0	HIST1H2AL	27941439	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.670000	0.68088	2.064000	0.61679	0.563000	0.77884	CCC		0.552	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		64	98	1	0	1.53e-18	1.84e-18	64	98				
PHF3	23469	broad.mit.edu	37	6	64422967	64422967	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:64422967T>C	ENST00000262043.3	+	16	5823	c.5483T>C	c.(5482-5484)aTg>aCg	p.M1828T	PHF3_ENST00000393387.1_Missense_Mutation_p.M1828T			Q92576	PHF3_HUMAN	PHD finger protein 3	1828	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCACAAAGCATGTTTGGATTT	0.512																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5482-5484)ATG>ACG		PHD finger protein 3							147.0	153.0	151.0					6																	64422967		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422967T>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5483T>C	6.37:g.64422967T>C	ENSP00000262043:p.Met1828Thr					PHF3_uc003pen.2_Missense_Mutation_p.M1740T|PHF3_uc011dxs.1_Missense_Mutation_p.M1097T	p.M1828T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5509	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1828			Pro-rich.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5483T>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	T	7.836	0.720885	0.15372	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21031	2.03;2.03	5.97	5.97	0.96955	.	0.000000	0.48286	D	0.000195	T	0.07007	0.0178	L	0.27053	0.805	0.49389	D	0.99978	P	0.38922	0.651	B	0.30943	0.122	T	0.19976	-1.0289	9	.	.	.	-3.8941	16.4608	0.84044	0.0:0.0:0.0:1.0	.	1828	Q92576	PHF3_HUMAN	T	1828	ENSP00000262043:M1828T;ENSP00000377048:M1828T	.	M	+	2	0	PHF3	64480926	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.610000	0.61155	2.288000	0.76882	0.533000	0.62120	ATG		0.512	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			91	128	0	0	0	0	91	128				
SOBP	55084	broad.mit.edu	37	6	107956339	107956339	+	Missense_Mutation	SNP	C	C	T	rs372864608		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:107956339C>T	ENST00000317357.5	+	6	2950	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGAACCGGCGGTGAGCGAG	0.711																																						uc003prx.2		NA																	0				ovary(1)	1						c.(2290-2292)GCG>GTG		sine oculis binding protein homolog		C	VAL/ALA	0,3720		0,0,1860	19.0	24.0	23.0		2291	0.1	0.1	6		23	1,8205		0,1,4102	no	missense	SOBP	NM_018013.3	64	0,1,5962	TT,TC,CC		0.0122,0.0,0.0084	benign	764/874	107956339	1,11925	1860	4103	5963	SO:0001583	missense	55084						metal ion binding	g.chr6:107956339C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2291C>T	6.37:g.107956339C>T	ENSP00000318900:p.Ala764Val						p.A764V	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2795	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	764						Missense_Mutation	SNP	ENST00000317357.5	37	c.2291C>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210901	0.22289	0.0	1.22E-4	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.34472	1.36	4.15	0.136	0.14780	.	8.852680	0.01326	N	0.011102	T	0.07234	0.0183	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13388	-1.0511	10	0.28530	T	0.3	0.1518	5.0981	0.14745	0.0:0.537:0.1402:0.3228	.	764	A7XYQ1	SOBP_HUMAN	V	764;159	ENSP00000318900:A764V	ENSP00000230065:A159V	A	+	2	0	SOBP	108063032	0.000000	0.05858	0.082000	0.20525	0.816000	0.46133	0.211000	0.17474	-0.378000	0.07918	0.462000	0.41574	GCG		0.711	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		7	27	0	0	0	0	7	27				
SLC2A12	154091	broad.mit.edu	37	6	134350301	134350301	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:134350301G>C	ENST00000275230.5	-	2	817	c.662C>G	c.(661-663)cCt>cGt	p.P221R		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	221					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CAGAAACCGAGGGCTTGGAGG	0.448																																					Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1		NA																	0				ovary(1)	1						c.(661-663)CCT>CGT		solute carrier family 2 (facilitated glucose							79.0	81.0	80.0					6																	134350301		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350301G>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.662C>G	6.37:g.134350301G>C	ENSP00000275230:p.Pro221Arg						p.P221R	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	833	-	Breast(56;0.214)|Colorectal(23;0.221)		221			Cytoplasmic (Potential).		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.662C>G	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012039	0.75046	.	.	ENSG00000146411	ENST00000275230	D	0.82081	-1.57	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96436	0.9323	10	0.87932	D	0	-20.6178	19.174	0.93594	0.0:0.0:1.0:0.0	.	221	Q8TD20	GTR12_HUMAN	R	221	ENSP00000275230:P221R	ENSP00000275230:P221R	P	-	2	0	SLC2A12	134391994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.230000	0.95299	2.542000	0.85734	0.467000	0.42956	CCT		0.448	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			30	60	0	0	0	0	30	60				
ERMARD	55780	broad.mit.edu	37	6	170156467	170156467	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr6:170156467C>T	ENST00000366773.3	+	4	382	c.349C>T	c.(349-351)Cta>Tta	p.L117L	ERMARD_ENST00000418781.3_Silent_p.L117L|ERMARD_ENST00000366772.2_Silent_p.L117L|ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000588451.1_5'UTR	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	117					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTTGGAAAGTCTACAATCTCC	0.348																																						uc003qxg.1		NA																	0				ovary(1)	1						c.(349-351)CTA>TTA		hypothetical protein LOC55780							113.0	109.0	110.0					6																	170156467		2203	4300	6503	SO:0001819	synonymous_variant	55780					integral to membrane		g.chr6:170156467C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.349C>T	6.37:g.170156467C>T						C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Silent_p.L117L|C6orf70_uc010kky.1_5'UTR	p.L117L	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	4	382	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	117					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.349C>T	CCDS34576.1																																																																																				0.348	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		9	48	0	0	0	0	9	48				
INTS1	26173	broad.mit.edu	37	7	1517526	1517526	+	Silent	SNP	C	C	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:1517526C>A	ENST00000404767.3	-	34	4762	c.4677G>T	c.(4675-4677)ctG>ctT	p.L1559L	INTS1_ENST00000389470.4_Silent_p.L1758L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1559					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATGCAGTCAGCAGCTCCTCCA	0.647																																						uc003skn.2		NA																	0					0						c.(4675-4677)CTG>CTT		integrator complex subunit 1							36.0	44.0	41.0					7																	1517526		2103	4192	6295	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1517526C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4677G>T	7.37:g.1517526C>A						INTS1_uc003skm.1_5'Flank	p.L1559L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	34	4778	-		Ovarian(82;0.0253)	1559					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.4677G>T	CCDS47526.1																																																																																				0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			6	77	1	0	2.01e-06	2.34e-06	6	77				
CPVL	54504	broad.mit.edu	37	7	29105714	29105714	+	Silent	SNP	G	G	A	rs370525550		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:29105714G>A	ENST00000409850.1	-	14	1534	c.888C>T	c.(886-888)ggC>ggT	p.G296G	CPVL_ENST00000265394.5_Silent_p.G296G|CPVL_ENST00000396276.3_Silent_p.G296G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	296						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTGTTAAGTCGCCATCTAGTA	0.348																																						uc003szv.2		NA																	0				ovary(2)	2						c.(886-888)GGC>GGT		serine carboxypeptidase vitellogenic-like							112.0	110.0	111.0					7																	29105714		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29105714G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.888C>T	7.37:g.29105714G>A						CPVL_uc003szw.2_Silent_p.G296G|CPVL_uc003szx.2_Silent_p.G296G	p.G296G	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			10	1007	-			296					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.888C>T	CCDS5419.1																																																																																				0.348	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		11	42	0	0	0	0	11	42				
TSC22D4	81628	broad.mit.edu	37	7	100075277	100075277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:100075277C>T	ENST00000300181.2	-	2	1139	c.385G>A	c.(385-387)Gag>Aag	p.E129K	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	129					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGCCAGCTCCAACCTGGAA	0.692																																						uc003uva.2		NA																	0				breast(2)	2						c.(385-387)GAG>AAG		TSC22 domain family, member 4							7.0	10.0	9.0					7																	100075277		2164	4243	6407	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075277C>T	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.385G>A	7.37:g.100075277C>T	ENSP00000300181:p.Glu129Lys					TSC22D4_uc003uvb.2_Intron|TSC22D4_uc011kjv.1_Intron|TSC22D4_uc010lgx.2_Missense_Mutation_p.E129K|TSC22D4_uc003uvc.3_Missense_Mutation_p.E129K	p.E129K	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN			2	1140	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		129					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.385G>A	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928061	0.92389	.	.	ENSG00000166925	ENST00000300181	.	.	.	5.3	5.3	0.74995	.	0.000000	0.44902	D	0.000420	T	0.67674	0.2918	L	0.44542	1.39	0.80722	D	1	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	T	0.65125	-0.6244	8	.	.	.	-24.402	14.5064	0.67755	0.0:1.0:0.0:0.0	.	129;129	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	K	129	.	.	E	-	1	0	TSC22D4	99913213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.361000	0.52306	2.494000	0.84150	0.449000	0.29647	GAG		0.692	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		7	6	0	0	0	0	7	6				
SSPO	23145	broad.mit.edu	37	7	149486777	149486777	+	RNA	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:149486777C>T	ENST00000378016.2	+	0	4551							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGGGACTGCCCAGATGGAG	0.667																																						uc010lpk.2		NA																	0					0						c.(4549-4551)TGC>TGT		SCO-spondin precursor							25.0	33.0	31.0					7																	149486777		2048	4190	6238			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486777C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486777C>T							p.C1517C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		31	4551	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1517			LDL-receptor class A 4.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.4551C>T																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	16	0	0	0	0	9	16				
KMT2C	58508	broad.mit.edu	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr7:151891214C>G	ENST00000262189.6	-	31	4759		c.e31-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCGCCAAGCTCTAGGAGATAA	0.418																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.e31-1		myeloid/lymphoid or mixed-lineage leukemia 3							82.0	80.0	81.0					7																	151891214		2203	4300	6503	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151891214C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4541-1G>C	7.37:g.151891214C>G						MLL3_uc003wkz.2_Splice_Site_p.E575_splice	p.E1514_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	31	4760	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)						Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.4541_splice	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024206	0.35701	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.01	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8392	0.63428	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151522147	1.000000	0.71417	0.996000	0.52242	0.312000	0.27988	3.565000	0.53798	2.592000	0.87571	0.650000	0.86243	.		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	10	27	0	0	0	0	10	27				
ZFHX4	79776	broad.mit.edu	37	8	77618583	77618583	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:77618583G>A	ENST00000521891.2	+	2	2708	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGGCTGCGGAACACCCTC	0.527										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2260-2262)GGA>AGA		zinc finger homeodomain 4							37.0	42.0	40.0					8																	77618583		2101	4258	6359	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618583G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2260G>A	8.37:g.77618583G>A	ENSP00000430497:p.Gly754Arg	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G754R|ZFHX4_uc003yau.1_Missense_Mutation_p.G754R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G754R	p.G754R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2647	+			754					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2260G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364521	0.41902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.1	5.1	0.69264	.	0.000000	0.44285	U	0.000477	T	0.62159	0.2405	M	0.62723	1.935	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.87	D;D;D;B	0.68483	0.909;0.958;0.958;0.245	T	0.58940	-0.7547	10	0.41790	T	0.15	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	754;754;754;754	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	R	754	ENSP00000430497:G754R;ENSP00000399605:G754R;ENSP00000050961:G754R;ENSP00000430848:G754R	ENSP00000050961:G754R	G	+	1	0	ZFHX4	77781138	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	7.430000	0.80321	2.803000	0.96430	0.650000	0.86243	GGA		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	19	0	0	0	0	25	19				
CNGB3	54714	broad.mit.edu	37	8	87638274	87638274	+	Silent	SNP	C	C	T			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:87638274C>T	ENST00000320005.5	-	13	1562	c.1515G>A	c.(1513-1515)acG>acA	p.T505T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	505					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						CTAACTGGACCGTAGTTGGTA	0.383																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1513-1515)ACG>ACA		cyclic nucleotide gated channel beta 3							118.0	108.0	111.0					8																	87638274		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87638274C>T	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.1515G>A	8.37:g.87638274C>T						CNGB3_uc010maj.2_Silent_p.T367T	p.T505T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			13	1561	-			505			Helical; Name=H6; (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.1515G>A	CCDS6244.1																																																																																				0.383	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		20	42	0	0	0	0	20	42				
ZNF251	90987	broad.mit.edu	37	8	145948537	145948537	+	Missense_Mutation	SNP	C	C	T	rs200948268		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr8:145948537C>T	ENST00000292562.7	-	5	783	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCCCTGCCCACGGTAGCTTCT	0.438																																						uc003zdv.3		NA																	0					0						c.(508-510)GTG>ATG		zinc finger protein 251							103.0	102.0	102.0					8																	145948537		1822	4082	5904	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948537C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.508G>A	8.37:g.145948537C>T	ENSP00000292562:p.Val170Met						p.V170M	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	764	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		170					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.508G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833054	0.16820	.	.	ENSG00000198169	ENST00000292562	T	0.07800	3.16	3.04	-2.74	0.05932	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39440	-0.9614	9	0.41790	T	0.15	-0.069	9.2077	0.37300	0.0:0.5896:0.0:0.4104	.	170	Q9BRH9	ZN251_HUMAN	M	170	ENSP00000292562:V170M	ENSP00000292562:V170M	V	-	1	0	ZNF251	145919346	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.401000	0.01048	-1.316000	0.02295	-1.119000	0.02030	GTG		0.438	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		106	133	0	0	0	0	106	133				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		17	10	0	0	0	0	17	10				
TRPM6	140803	broad.mit.edu	37	9	77386695	77386695	+	Missense_Mutation	SNP	C	C	T	rs371962660		TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr9:77386695C>T	ENST00000360774.1	-	25	3697	c.3460G>A	c.(3460-3462)Gtg>Atg	p.V1154M	TRPM6_ENST00000376864.4_Missense_Mutation_p.V1154M|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1149M|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1149M|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1154M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1154					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TATTTTTCCACGCACTGCTCC	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.001					uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3460-3462)GTG>ATG		transient receptor potential cation channel,		C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	117.0	105.0	109.0		3445,3445,3460	5.4	1.0	9		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1149/2018,1149/2018,1154/2023	77386695	1,13005	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77386695C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3460G>A	9.37:g.77386695C>T	ENSP00000354006:p.Val1154Met					TRPM6_uc004ajk.1_Missense_Mutation_p.V1149M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.V110M	p.V1154M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			25	3698	-			1154			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3460G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590755	0.86851	0.0	1.16E-4	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.53249	1.67	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.957;1.0	D;P;D	0.78314	0.98;0.622;0.991	T	0.63216	-0.6687	10	0.62326	D	0.03	.	19.1139	0.93330	0.0:1.0:0.0:0.0	.	1154;1149;1149	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	M	1154;1154;1149;1149;1154;817;817	ENSP00000354006:V1154M;ENSP00000407341:V1154M;ENSP00000396672:V1149M;ENSP00000354962:V1149M;ENSP00000366060:V1154M	ENSP00000309693:V817M	V	-	1	0	TRPM6	76576515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.717000	0.68446	2.515000	0.84797	0.655000	0.94253	GTG		0.353	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	45	0	0	0	0	8	45				
DMD	1756	broad.mit.edu	37	X	32591889	32591889	+	Silent	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:32591889G>C	ENST00000357033.4	-	14	1883	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	DMD_ENST00000378677.2_Silent_p.L555L|DMD_ENST00000288447.4_Silent_p.L551L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	559					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGCCATTTGAGAAGGATGT	0.423																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1675-1677)CTC>CTG		dystrophin Dp427m isoform							60.0	51.0	54.0					X																	32591889		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591889G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1677C>G	X.37:g.32591889G>C						DMD_uc004dcz.2_Silent_p.L436L|DMD_uc004dcy.1_Silent_p.L555L|DMD_uc004ddb.1_Silent_p.L551L|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.L551L|DMD_uc010ngp.1_Nonsense_Mutation_p.S79*|DMD_uc010ngq.1_RNA	p.L559L	NM_004006	NP_003997	P11532	DMD_HUMAN			14	1921	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	559			Spectrin 3.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.1677C>G	CCDS14233.1																																																																																				0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	6	0	0	0	0	7	6				
MID2	11043	broad.mit.edu	37	X	107159287	107159287	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:107159287G>C	ENST00000262843.6	+	6	1677	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.D377H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	377	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAATTTTAATGATGCCTTTGA	0.353																																						uc004enl.2		NA																	0				ovary(1)	1						c.(1129-1131)GAT>CAT		midline 2 isoform 1							122.0	118.0	120.0					X																	107159287		2203	4299	6502	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107159287G>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1129G>C	X.37:g.107159287G>C	ENSP00000262843:p.Asp377His					MID2_uc004enk.2_Missense_Mutation_p.D377H	p.D377H	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			6	1702	+			377			COS.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1129G>C	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048621	0.75846	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.60797	0.16;0.16	5.23	5.23	0.72850	COS domain (1);	0.180746	0.51477	D	0.000099	T	0.70753	0.3260	L	0.56769	1.78	0.58432	D	0.999993	D;P	0.69078	0.997;0.898	D;P	0.64687	0.928;0.712	T	0.73272	-0.4035	10	0.59425	D	0.04	.	15.1546	0.72730	0.0:0.0:1.0:0.0	.	377;377	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	377	ENSP00000262843:D377H;ENSP00000413976:D377H	ENSP00000262843:D377H	D	+	1	0	MID2	107045943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.166000	0.68216	0.600000	0.82982	GAT		0.353	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		33	14	0	0	0	0	33	14				
USP26	83844	broad.mit.edu	37	X	132161099	132161099	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chrX:132161099G>C	ENST00000511190.1	-	6	1619	c.1150C>G	c.(1150-1152)Cat>Gat	p.H384D	USP26_ENST00000370832.1_Missense_Mutation_p.H384D|USP26_ENST00000406273.1_Missense_Mutation_p.H384D	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	384	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.H384Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAACTCATGAGCATCGTTC	0.358																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	1	Substitution - Missense(1)		cervix(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1150-1152)CAT>GAT		ubiquitin-specific protease 26							81.0	78.0	79.0					X																	132161099		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161099G>C	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1150C>G	X.37:g.132161099G>C	ENSP00000423390:p.His384Asp					USP26_uc011mvf.1_Missense_Mutation_p.H384D	p.H384D	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1620	-	Acute lymphoblastic leukemia(192;0.000127)		384					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1150C>G	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.359411	0.41801	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.76186	-1.0;-1.0;-1.0	3.47	2.61	0.31194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.50627	D	0.000113	D	0.85708	0.5759	M	0.88377	2.95	0.33655	D	0.60898	D	0.89917	1.0	D	0.97110	1.0	D	0.88441	0.3042	10	0.87932	D	0	-11.7775	8.4179	0.32683	0.124:0.0:0.876:0.0	.	384	Q9BXU7	UBP26_HUMAN	D	384	ENSP00000359869:H384D;ENSP00000423390:H384D;ENSP00000384360:H384D	ENSP00000359869:H384D	H	-	1	0	USP26	131988765	1.000000	0.71417	0.997000	0.53966	0.394000	0.30568	6.024000	0.70857	0.849000	0.35215	0.519000	0.50382	CAT		0.358	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		24	14	0	0	0	0	24	14				
KCNT2	343450	broad.mit.edu	37	1	196311261	196311262	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr1:196311261_196311262insA	ENST00000294725.9	-	15	2415_2416	c.1500_1501insT	c.(1498-1503)tttgctfs	p.A501fs	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Frame_Shift_Ins_p.A112fs|KCNT2_ENST00000367433.5_Frame_Shift_Ins_p.A501fs|KCNT2_ENST00000609185.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	501	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATATTCAGCAAAAAATGTAC	0.391																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1498-1503)TTTGCTfs		potassium channel, subfamily T, member 2																																				SO:0001589	frameshift_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196311261_196311262insA	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1501dupT	1.37:g.196311267_196311267dupA	ENSP00000294725:p.Ala501fs					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Frame_Shift_Ins_p.F500fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Ins_p.F500fs|KCNT2_uc001gth.1_Frame_Shift_Ins_p.F21fs	p.F500fs	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			15	1560_1561	-			500_501			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Frame_Shift_Ins	INS	ENST00000294725.9	37	c.1500_1501insT	CCDS1384.1																																																																																				0.391	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		16	34	NA	NA	NA	NA	16	34	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27188544	27188544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr15:27188544delA	ENST00000335625.5	+	10	1948	c.1060delA	c.(1060-1062)aaafs	p.K355fs	GABRA5_ENST00000400081.3_Frame_Shift_Del_p.K355fs|GABRA5_ENST00000355395.5_Frame_Shift_Del_p.K355fs	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	355					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTGGGATGGCAAAAAAGCCTT	0.498																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(1060-1062)AAAfs		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						36.0	40.0	39.0					15																	27188544		1964	4178	6142	SO:0001589	frameshift_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188544delA		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1060delA	15.37:g.27188544delA	ENSP00000335592:p.Lys355fs					GABRA5_uc001zbe.1_5'Flank	p.K354fs	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	1399	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	354			Cytoplasmic (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Frame_Shift_Del	DEL	ENST00000335625.5	37	c.1060delA	CCDS45194.1																																																																																				0.498	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
STK25	10494	broad.mit.edu	37	2	242438109	242438110	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr2:242438109_242438110insA	ENST00000316586.4	-	8	1210_1211	c.861_862insT	c.(859-864)tataagfs	p.K288fs	STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Frame_Shift_Ins_p.K211fs|STK25_ENST00000403346.3_Frame_Shift_Ins_p.K288fs|STK25_ENST00000535007.1_Frame_Shift_Ins_p.K194fs|STK25_ENST00000405585.1_Frame_Shift_Ins_p.K211fs|STK25_ENST00000543554.1_Frame_Shift_Ins_p.K194fs|STK25_ENST00000401869.1_Frame_Shift_Ins_p.K288fs	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	288					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTCCAGCGCTTATAGCGGTCGA	0.584																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.2		NA																	0					0						c.(859-864)TATAAGfs		serine/threonine kinase 25																																				SO:0001589	frameshift_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438109_242438110insA	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.862dupT	2.37:g.242438110_242438110dupA	ENSP00000325748:p.Lys288fs					STK25_uc002wbk.2_Frame_Shift_Ins_p.Y106fs|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Frame_Shift_Ins_p.Y287fs|STK25_uc002wbo.2_Frame_Shift_Ins_p.Y210fs|STK25_uc010zos.1_Frame_Shift_Ins_p.Y193fs|STK25_uc010zot.1_Frame_Shift_Ins_p.Y213fs|STK25_uc002wbp.2_Frame_Shift_Ins_p.Y287fs|STK25_uc010fzo.2_Frame_Shift_Ins_p.Y210fs|STK25_uc010zou.1_Frame_Shift_Ins_p.Y193fs|STK25_uc010zov.1_Frame_Shift_Ins_p.Y193fs	p.Y287fs	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	1132_1133	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	287_288					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Frame_Shift_Ins	INS	ENST00000316586.4	37	c.861_862insT	CCDS2549.1																																																																																				0.584	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		27	104	NA	NA	NA	NA	27	104	---	---	---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6998-01A-23D-2012-08	TCGA-CN-6998-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9c364f7e-5b90-44ef-9f80-250e428989ef	87130101-046f-4b71-9ed9-79b2d8556e64	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	uc002wwl.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(430-432)TTCfs		BCL2-like 1 isoform 1							199.0	198.0	199.0					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Frame_Shift_Del_p.F144fs|BCL2L1_uc002wwo.1_Frame_Shift_Del_p.F144fs	p.F144fs	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	797	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144			BH1.		E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		7	365	NA	NA	NA	NA	7	365	---	---	---	---
