#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
CDC42	998	broad.mit.edu	37	1	22413014	22413014	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:22413014A>G	ENST00000344548.3	+	5	512	c.261A>G	c.(259-261)ccA>ccG	p.P87P	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Silent_p.P87P|CDC42_ENST00000421089.2_Silent_p.P129P|CDC42_ENST00000400259.1_Silent_p.P87P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	87					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)		TGGTCTCTCCATCTTCATTTG	0.358																																						uc001bfq.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(259-261)CCA>CCG		cell division cycle 42 isoform 1							80.0	81.0	81.0					1																	22413014		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:22413014A>G	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.261A>G	1.37:g.22413014A>G						CDC42_uc009vqg.1_Silent_p.P87P|CDC42_uc001bfp.2_Silent_p.P87P|CDC42_uc001bfr.2_Silent_p.P87P|CDC42_uc010odr.1_Silent_p.P132P|CDC42_uc010ods.1_Silent_p.P129P|CDC42_uc009vqh.2_Silent_p.P46P	p.P87P	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)	5	553	+		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)	87					P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	37	c.261A>G	CCDS221.1																																																																																				0.358	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		29	33	0	0	0	0	29	33				
CSMD2	114784	broad.mit.edu	37	1	34033207	34033207	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:34033207G>T	ENST00000373381.4	-	53	8542	c.8366C>A	c.(8365-8367)aCc>aAc	p.T2789N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2766	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGAAAGGGGTCTTGCCCGA	0.527																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(8296-8298)ACC>AAC		CUB and Sushi multiple domains 2							120.0	95.0	103.0					1																	34033207		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34033207G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8366C>A	1.37:g.34033207G>T	ENSP00000362479:p.Thr2789Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.T2789N	p.T2766N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			54	8326	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2766			Sushi 18.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8297C>A		.	.	.	.	.	.	.	.	.	.	G	16.13	3.034527	0.54896	.	.	ENSG00000121904	ENST00000373381	T	0.63417	-0.04	5.12	5.12	0.69794	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	L	0.52573	1.65	0.80722	D	1	D;P	0.67145	0.996;0.741	D;P	0.72625	0.978;0.471	T	0.72757	-0.4197	10	0.39692	T	0.17	.	17.8987	0.88897	0.0:0.0:1.0:0.0	.	2766;2789	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	2789	ENSP00000362479:T2789N	ENSP00000241312:T2766N	T	-	2	0	CSMD2	33805794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.552000	0.86080	0.591000	0.81541	ACC		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		10	32	1	0	4.69e-08	5.29e-08	10	32				
ZFYVE9	9372	broad.mit.edu	37	1	52810541	52810541	+	Silent	SNP	C	C	G	rs145347233		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:52810541C>G	ENST00000371591.1	+	17	4172	c.4041C>G	c.(4039-4041)ctC>ctG	p.L1347L	ZFYVE9_ENST00000357206.2_Silent_p.L1288L|ZFYVE9_ENST00000287727.3_Silent_p.L1347L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1347					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCCTTGCTCTCTGTCCTCACC	0.453																																						uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(4039-4041)CTC>CTG		zinc finger, FYVE domain containing 9 isoform 3		C	,	1,4405	2.1+/-5.4	0,1,2202	164.0	132.0	143.0		4041,3864	2.2	1.0	1	dbSNP_134	143	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZFYVE9	NM_004799.2,NM_007324.2	,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,	1347/1426,1288/1367	52810541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52810541C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.4041C>G	1.37:g.52810541C>G						ZFYVE9_uc001ctp.2_Silent_p.L1288L	p.L1347L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			18	4213	+			1347					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.4041C>G	CCDS563.1																																																																																				0.453	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		33	70	0	0	0	0	33	70				
SGIP1	84251	broad.mit.edu	37	1	67147692	67147692	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:67147692T>A	ENST00000371037.4	+	15	1032	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S323T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	319	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTCTGATACATCCCCGGAACA	0.507																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(955-957)TCC>ACC		SH3-domain GRB2-like (endophilin) interacting							113.0	117.0	115.0					1																	67147692		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147692T>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.955T>A	1.37:g.67147692T>A	ENSP00000360076:p.Ser319Thr					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.S86T	p.S319T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1172	+			319			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.955T>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512957	0.44660	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03358	3.96;3.96	5.32	5.32	0.75619	.	0.055816	0.64402	D	0.000001	T	0.01976	0.0062	L	0.44542	1.39	0.80722	D	1	B;P	0.47409	0.084;0.895	B;B	0.41236	0.068;0.351	T	0.63065	-0.6720	10	0.15952	T	0.53	-13.2236	15.5885	0.76506	0.0:0.0:0.0:1.0	.	322;319	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	T	323;322;322;319	ENSP00000237247:S323T;ENSP00000360076:S319T	ENSP00000237247:S323T	S	+	1	0	SGIP1	66920280	0.993000	0.37304	0.962000	0.40283	0.937000	0.57800	2.337000	0.43947	2.133000	0.65898	0.455000	0.32223	TCC		0.507	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		33	74	0	0	0	0	33	74				
ZNF326	284695	broad.mit.edu	37	1	90484343	90484343	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:90484343G>T	ENST00000340281.4	+	9	1317	c.1174G>T	c.(1174-1176)Ggt>Tgt	p.G392C	ZNF326_ENST00000455342.2_Splice_Site_p.G186C|ZNF326_ENST00000370447.3_Splice_Site_p.G303C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	392					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTATGGAAGGTAAGTATTT	0.254																																						uc001dnq.2		NA																	0				ovary(1)	1						c.(1174-1176)GGT>TGT		zinc finger protein 326 isoform 1							41.0	46.0	44.0					1																	90484343		2176	4262	6438	SO:0001630	splice_region_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90484343G>T	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1174+1G>T	1.37:g.90484343G>T						ZNF326_uc009wda.1_Missense_Mutation_p.G303C|ZNF326_uc001dnr.2_Missense_Mutation_p.G186C	p.G392C	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	9	1313	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	392					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1174G>T	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799242	0.70567	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.54479	0.57;0.57;0.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69030	-0.5253	10	0.72032	D	0.01	-9.0429	18.9225	0.92530	0.0:0.0:1.0:0.0	.	392;392	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	392;392;303;186	ENSP00000340796:G392C;ENSP00000359476:G303C;ENSP00000403470:G186C	ENSP00000340796:G392C	G	+	1	0	ZNF326	90256931	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.778000	0.75043	2.572000	0.86782	0.585000	0.79938	GGT		0.254	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	Missense_Mutation	6	24	1	0	5.94e-07	6.61e-07	6	24				
USH2A	7399	broad.mit.edu	37	1	216258090	216258090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:216258090C>T	ENST00000307340.3	-	25	5503	c.5117G>A	c.(5116-5118)tGg>tAg	p.W1706*	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.W1706*|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1706	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCCTCCCAGCTGTTATA	0.408										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5116-5118)TGG>TAG		usherin isoform B							121.0	118.0	119.0					1																	216258090		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258090C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5117G>A	1.37:g.216258090C>T	ENSP00000305941:p.Trp1706*	HNSCC(13;0.011)					p.W1706*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5504	-			1706			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.5117G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	49	15.406495	0.99833	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.93	4.93	0.64822	.	0.000000	0.42548	D	0.000686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2334	0.89941	0.0:1.0:0.0:0.0	.	.	.	.	X	1706	.	ENSP00000305941:W1706X	W	-	2	0	USH2A	214324713	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.819000	0.75262	2.292000	0.77174	0.650000	0.86243	TGG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	57	0	0	0	0	8	57				
DISP1	84976	broad.mit.edu	37	1	223178344	223178344	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:223178344G>C	ENST00000284476.6	+	8	3769	c.3605G>C	c.(3604-3606)tGc>tCc	p.C1202S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1202					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCCACAGCTGCACTGCCCCT	0.443																																						uc001hnu.1		NA																	0					0						c.(3604-3606)TGC>TCC		dispatched A							56.0	60.0	59.0					1																	223178344		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178344G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3605G>C	1.37:g.223178344G>C	ENSP00000284476:p.Cys1202Ser						p.C1202S	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3752	+			1202					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3605G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	7.023	0.559178	0.13436	.	.	ENSG00000154309	ENST00000284476	D	0.91843	-2.92	5.75	3.89	0.44902	.	0.291923	0.40222	N	0.001153	D	0.83704	0.5312	N	0.24115	0.695	0.33402	D	0.577452	B	0.11235	0.004	B	0.13407	0.009	T	0.76432	-0.2961	10	0.08837	T	0.75	-5.1136	11.6184	0.51102	0.0669:0.1251:0.8079:0.0	.	1202	Q96F81	DISP1_HUMAN	S	1202	ENSP00000284476:C1202S	ENSP00000284476:C1202S	C	+	2	0	DISP1	221244967	0.978000	0.34361	0.369000	0.25952	0.983000	0.72400	2.044000	0.41241	0.789000	0.33779	-0.264000	0.10439	TGC		0.443	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	43	0	0	0	0	8	43				
CEP170	9859	broad.mit.edu	37	1	243388581	243388581	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:243388581A>G	ENST00000366542.1	-	2	53	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CEP170_ENST00000366543.1_Start_Codon_SNP_p.M1T|AC092782.1_ENST00000596590.1_Intron|CEP170_ENST00000366544.1_Start_Codon_SNP_p.M1T	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTAAGCTCATTTTCTGCTT	0.413																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1-3)ATG>ACG		centrosomal protein 170kDa isoform alpha							54.0	55.0	55.0					1																	243388581		1937	4140	6077	SO:0001582	initiator_codon_variant	9859					centriole|microtubule|spindle		g.chr1:243388581A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2T>C	1.37:g.243388581A>G	ENSP00000355500:p.Met1Thr					CEP170_uc001hzt.2_Missense_Mutation_p.M1T|CEP170_uc001hzu.2_Missense_Mutation_p.M1T	p.M1T	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		2	410	-	all_neural(11;0.101)	all_cancers(173;0.003)	1					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273949	0.80580	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000522191;ENST00000523424;ENST00000522995	T;T;T	0.61040	0.14;0.24;0.24	5.95	5.95	0.96441	SMAD/FHA domain (1);	.	.	.	.	T	0.77765	0.4179	.	.	.	0.80722	D	1	D;D;D	0.76494	0.995;0.995;0.999	D;D;D	0.78314	0.988;0.991;0.989	T	0.80883	-0.1183	8	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1;1;1	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	T	1	ENSP00000355500:M1T;ENSP00000355502:M1T;ENSP00000355501:M1T	ENSP00000355500:M1T	M	-	2	0	CEP170	241455204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	ATG		0.413	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	Missense_Mutation	3	10	0	0	0	0	3	10				
OR2T11	127077	broad.mit.edu	37	1	248790244	248790244	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790244C>T	ENST00000330803.2	-	1	247	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGACAGCTGACTGAGCA	0.483																																						uc001ier.1		NA																	0				lung(1)	1						c.(184-186)CAG>CAA		olfactory receptor, family 2, subfamily T,							68.0	74.0	72.0					1																	248790244		2055	4235	6290	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790244C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.186G>A	1.37:g.248790244C>T							p.Q62Q	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	186	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		62			Helical; Name=2; (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.186G>A	CCDS31122.1																																																																																				0.483	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		12	32	0	0	0	0	12	32				
NDST2	8509	broad.mit.edu	37	10	75567374	75567374	+	Missense_Mutation	SNP	C	C	T	rs374230682		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:75567374C>T	ENST00000309979.6	-	3	1329	c.773G>A	c.(772-774)cGt>cAt	p.R258H	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R258H|NDST2_ENST00000299641.4_Missense_Mutation_p.R135H			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCGGGCCCGACGAAGAACTGG	0.562																																						uc001jvk.2		NA																	0				ovary(1)	1						c.(772-774)CGT>CAT		heparan glucosaminyl		C	HIS/ARG	0,4406		0,0,2203	52.0	52.0	52.0		773	5.8	1.0	10		52	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDST2	NM_003635.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	258/884	75567374	2,13004	2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567374C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.773G>A	10.37:g.75567374C>T	ENSP00000310657:p.Arg258His					NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.R135H|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.R135H	p.R258H	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	1577	-	Prostate(51;0.0112)		258			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.773G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651233	0.29336	0.0	2.33E-4	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.43294	1.27;0.95	5.75	5.75	0.90469	.	0.144197	0.51477	D	0.000086	T	0.23886	0.0578	N	0.14661	0.345	0.37745	D	0.925761	B;B	0.17268	0.0;0.021	B;B	0.14023	0.003;0.01	T	0.16512	-1.0400	10	0.30078	T	0.28	.	7.5334	0.27695	0.0:0.8039:0.0:0.1961	.	135;258	B4E139;P52849	.;NDST2_HUMAN	H	258;135	ENSP00000310657:R258H;ENSP00000299641:R135H	ENSP00000299641:R135H	R	-	2	0	NDST2	75237380	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.224000	0.42945	2.720000	0.93068	0.655000	0.94253	CGT		0.562	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		11	27	0	0	0	0	11	27				
KAT6B	23522	broad.mit.edu	37	10	76780360	76780360	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:76780360G>C	ENST00000287239.4	+	14	3139	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q	KAT6B_ENST00000372711.1_Missense_Mutation_p.E701Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E592Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E592Q|RP11-77G23.2_ENST00000413431.1_RNA|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.E592Q|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	884	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTCTAGAAGAGAAGGCCAAGC	0.478																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(2650-2652)GAA>CAA		MYST histone acetyltransferase (monocytic							52.0	52.0	52.0					10																	76780360		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76780360G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2650G>C	10.37:g.76780360G>C	ENSP00000287239:p.Glu884Gln					MYST4_uc001jwm.1_Missense_Mutation_p.E592Q|MYST4_uc001jwo.1_Missense_Mutation_p.E592Q|MYST4_uc001jwp.1_Missense_Mutation_p.E701Q	p.E884Q	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			14	3143	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		884			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2650G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468225	0.43839	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.82711	-1.59;-1.59;-1.64;-1.59;-1.61	5.88	5.88	0.94601	.	0.000000	0.46442	D	0.000293	D	0.93880	0.8042	M	0.93594	3.435	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.962	D;D;B	0.77004	0.989;0.989;0.438	D	0.94599	0.7794	10	0.87932	D	0	-13.512	20.2241	0.98333	0.0:0.0:1.0:0.0	.	701;592;884	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	592;592;884;592;701	ENSP00000361810:E592Q;ENSP00000361809:E592Q;ENSP00000287239:E884Q;ENSP00000361799:E592Q;ENSP00000361796:E701Q	ENSP00000287239:E884Q	E	+	1	0	KAT6B	76450366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.785000	0.95823	0.655000	0.94253	GAA		0.478	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		15	25	0	0	0	0	15	25				
TDRD1	56165	broad.mit.edu	37	10	115973760	115973760	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:115973760T>C	ENST00000369280.1	+	16	2559	c.2099T>C	c.(2098-2100)gTa>gCa	p.V700A	TDRD1_ENST00000422662.1_Missense_Mutation_p.V304A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V700A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V643A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V700A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	700					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGGAAAAGTAAATCCATTG	0.443																																						uc001lbg.1		NA																	0					0						c.(2098-2100)GTA>GCA		tudor domain containing 1							206.0	189.0	195.0					10																	115973760		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973760T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2099T>C	10.37:g.115973760T>C	ENSP00000358286:p.Val700Ala					TDRD1_uc001lbf.2_Missense_Mutation_p.V634A|TDRD1_uc001lbh.1_Missense_Mutation_p.V691A|TDRD1_uc001lbi.1_Missense_Mutation_p.V691A|TDRD1_uc010qsc.1_Missense_Mutation_p.V304A|TDRD1_uc001lbj.2_Missense_Mutation_p.V409A	p.V700A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	16	2252	+		Colorectal(252;0.172)|Breast(234;0.188)	700					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2099T>C		.	.	.	.	.	.	.	.	.	.	T	8.238	0.806284	0.16467	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19394	3.13;3.11;2.15;2.54;3.13	5.47	-3.26	0.05064	.	2.451140	0.01294	N	0.010138	T	0.16769	0.0403	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.22746	0.002;0.002;0.074;0.003;0.015	B;B;B;B;B	0.18871	0.004;0.001;0.014;0.003;0.023	T	0.24905	-1.0147	10	0.22706	T	0.39	0.3095	13.6327	0.62204	0.0:0.62:0.0:0.38	.	304;700;643;700;643	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	A	700;700;643;304;700	ENSP00000358288:V700A;ENSP00000251864:V700A;ENSP00000358287:V643A;ENSP00000402794:V304A;ENSP00000358286:V700A	ENSP00000251864:V700A	V	+	2	0	TDRD1	115963750	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.001000	0.12947	-0.943000	0.03691	-0.376000	0.06991	GTA		0.443	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			12	39	0	0	0	0	12	39				
OR52E4	390081	broad.mit.edu	37	11	5905534	5905534	+	Missense_Mutation	SNP	C	C	G	rs373157310		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:5905534C>G	ENST00000316987.2	+	1	34	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTCTATCAATGACACCC	0.428																																						uc010qzs.1		NA																	0				ovary(2)	2						c.(10-12)ATC>ATG		olfactory receptor, family 52, subfamily E,							151.0	150.0	150.0					11																	5905534		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905534C>G	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.12C>G	11.37:g.5905534C>G	ENSP00000321426:p.Ile4Met					TRIM5_uc001mbq.1_Intron	p.I4M	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	12	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	4			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.12C>G	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	7.691	0.691062	0.15039	.	.	ENSG00000180974	ENST00000316987	T	0.37235	1.21	5.15	0.906	0.19314	.	0.612106	0.14518	N	0.314645	T	0.15739	0.0379	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.15549	-1.0433	10	0.34782	T	0.22	.	2.7928	0.05393	0.1483:0.5548:0.144:0.153	.	4	Q8NGH9	O52E4_HUMAN	M	4	ENSP00000321426:I4M	ENSP00000321426:I4M	I	+	3	3	OR52E4	5862110	0.037000	0.19845	0.001000	0.08648	0.019000	0.09904	0.556000	0.23438	0.312000	0.23038	0.643000	0.83706	ATC		0.428	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		19	77	0	0	0	0	19	77				
OR52L1	338751	broad.mit.edu	37	11	6008146	6008146	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:6008146A>G	ENST00000332249.4	-	1	69	c.15T>C	c.(13-15)tcT>tcC	p.S5S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGAAAAAAGAAACCAAAG	0.423																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(13-15)TCT>TCC		olfactory receptor, family 52, subfamily L,							47.0	47.0	47.0					11																	6008146		1851	4082	5933	SO:0001819	synonymous_variant	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008146A>G	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.15T>C	11.37:g.6008146A>G							p.S5S	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	70	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	5			Extracellular (Potential).		B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	c.15T>C	CCDS44529.1																																																																																				0.423	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		4	30	0	0	0	0	4	30				
PPFIBP2	8495	broad.mit.edu	37	11	7670885	7670885	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:7670885G>A	ENST00000299492.4	+	21	2509	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	PPFIBP2_ENST00000528883.1_Splice_Site_p.E595E|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Splice_Site_p.E549E|PPFIBP2_ENST00000530181.1_Splice_Site_p.E564E	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	707					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E707D(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGATGAGGTGAGACCAC	0.498																																						uc001mfj.3		NA																	1	Substitution - Missense(1)	p.E707D(1)	ovary(1)	ovary(2)|breast(2)	4						c.(2119-2121)GAG>GAA		PTPRF interacting protein, binding protein 2							199.0	208.0	205.0					11																	7670885		2201	4296	6497	SO:0001630	splice_region_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670885G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2121+1G>A	11.37:g.7670885G>A						PPFIBP2_uc010rbb.1_Silent_p.E630E|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.E641E|PPFIBP2_uc010rbe.1_Silent_p.E595E|PPFIBP2_uc001mfl.3_Silent_p.E564E|PPFIBP2_uc009yfj.1_Silent_p.E351E	p.E707E	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	21	2509	+			707					B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.2121G>A	CCDS31419.1																																																																																				0.498	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	Silent	20	180	0	0	0	0	20	180				
SPTBN2	6712	broad.mit.edu	37	11	66472445	66472445	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:66472445G>A	ENST00000533211.1	-	15	2633	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R768C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R768C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	768					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACCAGGCGCAGTGCGTCA	0.682																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2302-2304)CGC>TGC		spectrin, beta, non-erythrocytic 2							60.0	50.0	53.0					11																	66472445		2200	4294	6494	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472445G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2302C>T	11.37:g.66472445G>A	ENSP00000432568:p.Arg768Cys						p.R768C	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	2374	-			768			Spectrin 5.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.2302C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683227	0.47991	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52057	0.68;0.68;0.68	4.7	3.79	0.43588	.	0.068620	0.56097	D	0.000033	T	0.67154	0.2863	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71178	-0.4669	10	0.87932	D	0	.	11.7218	0.51688	0.0877:0.0:0.9122:0.0	.	768	O15020	SPTN2_HUMAN	C	768	ENSP00000432568:R768C;ENSP00000311489:R768C;ENSP00000433593:R768C	ENSP00000311489:R768C	R	-	1	0	SPTBN2	66229021	0.015000	0.18098	1.000000	0.80357	0.977000	0.68977	0.988000	0.29616	1.204000	0.43247	0.467000	0.42956	CGC		0.682	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		11	52	0	0	0	0	11	52				
TPCN2	219931	broad.mit.edu	37	11	68846464	68846464	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:68846464C>T	ENST00000294309.3	+	16	1616	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	TPCN2_ENST00000542467.1_Silent_p.D505D|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	505					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGTTTGACGGGCTCCTCA	0.612																																						uc001oos.2		NA																	0					0						c.(1513-1515)GAC>GAT		two pore segment channel 2							118.0	105.0	109.0					11																	68846464		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68846464C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1515C>T	11.37:g.68846464C>T						TPCN2_uc001oor.2_Silent_p.D420D|TPCN2_uc010rqg.1_Silent_p.D505D|TPCN2_uc001oot.2_RNA	p.D505D	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		16	1631	+			505			Helical; Name=S3 of repeat II; (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.1515C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171274	0.06421	.	.	ENSG00000162341	ENST00000356782	.	.	.	4.21	-4.91	0.03085	.	.	.	.	.	T	0.66848	0.2831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69165	-0.5217	5	0.56958	D	0.05	-23.6688	12.6973	0.57012	0.0:0.1976:0.0:0.8024	.	.	.	.	M	379	.	ENSP00000349231:T379M	T	+	2	0	TPCN2	68603040	0.988000	0.35896	0.015000	0.15790	0.428000	0.31595	0.108000	0.15396	-1.497000	0.01826	-1.598000	0.00824	ACG		0.612	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		5	74	0	0	0	0	5	74				
CACNA1C	775	broad.mit.edu	37	12	2717687	2717687	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:2717687C>T	ENST00000347598.4	+	28	3427	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1148C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1143C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1123C|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1123C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1143	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1123G(1)|p.R658G(1)|p.R1173G(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGCTGTACCGCTCCATCGA	0.577																																						uc009zdu.1		NA																	3	Substitution - Missense(3)		prostate(3)	ovary(10)|central_nervous_system(1)	11						c.(3427-3429)CGC>TGC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						51.0	48.0	49.0					12																	2717687		2203	4300	6503	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2717687C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3427C>T	12.37:g.2717687C>T	ENSP00000266376:p.Arg1143Cys					CACNA1C_uc009zdv.1_Missense_Mutation_p.R1120C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1123C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1123C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qka.1_Missense_Mutation_p.R658C|CACNA1C_uc001qki.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R859C	p.R1143C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	28	3740	+			1143			Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3427C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004009	0.74932	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98887	0.9623	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.91635	0.997;0.999;0.973;0.997;0.999;0.999;0.999;0.954;0.954;0.999;0.997;0.894;0.999;0.998;0.999;0.995;0.894;0.999;0.894;0.995;0.999;0.999;0.993;0.992;0.998	D	0.99143	1.0856	10	0.87932	D	0	.	14.2034	0.65719	0.1588:0.8412:0.0:0.0	.	1123;1120;1143;1123;1123;1123;1123;1123;1123;1143;1123;1094;1143;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1148;1123;1123;1123;1123;1123;1123;1123;1123;1123;1143;1143;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;964	ENSP00000336982:R1148C;ENSP00000382563:R1123C;ENSP00000437936:R1123C;ENSP00000382552:R1123C;ENSP00000382547:R1123C;ENSP00000382506:R1123C;ENSP00000382530:R1123C;ENSP00000382546:R1123C;ENSP00000382500:R1123C;ENSP00000382549:R1123C;ENSP00000266376:R1143C;ENSP00000382515:R1143C;ENSP00000382510:R1123C;ENSP00000341092:R1123C;ENSP00000382537:R1123C;ENSP00000329877:R1123C;ENSP00000382557:R1123C;ENSP00000385724:R1123C;ENSP00000382512:R1123C;ENSP00000382542:R1123C;ENSP00000382526:R1123C;ENSP00000385896:R1123C;ENSP00000382504:R1123C	ENSP00000323129:R964C	R	+	1	0	CACNA1C	2587948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.465000	0.53064	2.618000	0.88619	0.655000	0.94253	CGC		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	16	0	0	0	0	4	16				
ACRBP	84519	broad.mit.edu	37	12	6753666	6753666	+	Missense_Mutation	SNP	T	T	A	rs201620539		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:6753666T>A	ENST00000229243.2	-	5	674	c.581A>T	c.(580-582)gAg>gTg	p.E194V	ACRBP_ENST00000536350.1_Missense_Mutation_p.E194V|ACRBP_ENST00000414226.2_Missense_Mutation_p.E161V|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCTTGTGCTCTGGCGCTTG	0.582																																						uc001qpu.1		NA																	0				central_nervous_system(1)	1						c.(580-582)GAG>GTG		proacrosin binding protein sp32 precursor							125.0	111.0	116.0					12																	6753666		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753666T>A	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.581A>T	12.37:g.6753666T>A	ENSP00000229243:p.Glu194Val					ACRBP_uc010sfg.1_Missense_Mutation_p.E161V	p.E194V	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			5	629	-			194						Missense_Mutation	SNP	ENST00000229243.2	37	c.581A>T	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	T	5.928	0.355192	0.11239	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.53857	0.83;0.6	3.72	2.38	0.29361	.	1.339510	0.04648	N	0.406658	T	0.48390	0.1497	L	0.54323	1.7	0.09310	N	1	B;B	0.31413	0.322;0.322	B;B	0.32805	0.153;0.153	T	0.39396	-0.9616	10	0.46703	T	0.11	-0.4831	4.2862	0.10857	0.0:0.2499:0.0:0.7501	.	161;194	E7EP66;Q8NEB7	.;ACRBP_HUMAN	V	194;161;194	ENSP00000229243:E194V;ENSP00000402725:E161V	ENSP00000229243:E194V	E	-	2	0	ACRBP	6623927	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.108000	0.15396	0.631000	0.30412	0.459000	0.35465	GAG		0.582	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		9	99	0	0	0	0	9	99				
PZP	5858	broad.mit.edu	37	12	9334673	9334673	+	Silent	SNP	G	G	A	rs369848439		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:9334673G>A	ENST00000261336.2	-	14	1615	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	PZP_ENST00000381997.2_Silent_p.D398D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	529					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGGGGCAACGTCTGACTCCA	0.413													G|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1585-1587)GAC>GAT		pregnancy-zone protein precursor		G		2,4404	4.2+/-10.8	0,2,2201	69.0	61.0	64.0		1587	2.1	0.2	12		64	0,8600		0,0,4300	no	coding-synonymous	PZP	NM_002864.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		529/1483	9334673	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9334673G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1587C>T	12.37:g.9334673G>A						PZP_uc009zgl.2_Silent_p.D398D	p.D529D	NM_002864	NP_002855					14	1616	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1587C>T	CCDS8600.1																																																																																				0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		11	37	0	0	0	0	11	37				
PTPRO	5800	broad.mit.edu	37	12	15636952	15636952	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:15636952C>T	ENST00000281171.4	+	2	450	c.120C>T	c.(118-120)atC>atT	p.I40I	PTPRO_ENST00000543886.1_Silent_p.I40I|PTPRO_ENST00000348962.2_Silent_p.I40I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	40					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.I40I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATAATAACATCGTTGTCTCAT	0.348																																						uc001rcv.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(118-120)ATC>ATT		receptor-type protein tyrosine phosphatase O							92.0	92.0	92.0					12																	15636952		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15636952C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.120C>T	12.37:g.15636952C>T						PTPRO_uc001rcw.1_Silent_p.I40I|PTPRO_uc001rcu.1_Silent_p.I40I	p.I40I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			2	294	+		Hepatocellular(102;0.244)	40			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.120C>T	CCDS8675.1																																																																																				0.348	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			22	73	0	0	0	0	22	73				
SLC16A7	9194	broad.mit.edu	37	12	60169147	60169147	+	Silent	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:60169147T>G	ENST00000261187.4	+	4	1235	c.1071T>G	c.(1069-1071)gtT>gtG	p.V357V	SLC16A7_ENST00000552024.1_Silent_p.V357V|SLC16A7_ENST00000552432.1_Silent_p.V357V|SLC16A7_ENST00000543448.1_Silent_p.V258V|SLC16A7_ENST00000547379.1_Silent_p.V357V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	357					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTAGCAGTGTTCTCTTTGAAA	0.498																																						uc001sqs.2		NA																	0				ovary(1)	1						c.(1069-1071)GTT>GTG		solute carrier family 16, member 7	Pyruvic acid(DB00119)						170.0	155.0	160.0					12																	60169147		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169147T>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1071T>G	12.37:g.60169147T>G						SLC16A7_uc001sqt.2_Silent_p.V357V|SLC16A7_uc001squ.2_Silent_p.V357V|SLC16A7_uc009zqi.2_Silent_p.V258V|SLC16A7_uc010ssi.1_Silent_p.V258V	p.V357V	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1370	+			357			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1071T>G	CCDS8961.1																																																																																				0.498	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		18	70	0	0	0	0	18	70				
DNAH10	196385	broad.mit.edu	37	12	124335520	124335520	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:124335520C>T	ENST00000409039.3	+	34	5859	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1945	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGAGCTGCCCGAGTCGGTG	0.612																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5833-5835)CCC>CTC		dynein, axonemal, heavy chain 10							39.0	45.0	43.0					12																	124335520		2149	4287	6436	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335520C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5834C>T	12.37:g.124335520C>T	ENSP00000386770:p.Pro1945Leu						p.P1945L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5859	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1945			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5834C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	33	5.193855	0.94960	.	.	ENSG00000197653	ENST00000409039	T	0.15718	2.4	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.58637	0.2136	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73154	-0.4072	10	0.87932	D	0	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	1945	Q8IVF4	DYH10_HUMAN	L	1945	ENSP00000386770:P1945L	ENSP00000386770:P1945L	P	+	2	0	DNAH10	122901473	1.000000	0.71417	0.980000	0.43619	0.795000	0.44927	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	CCC		0.612	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			24	35	0	0	0	0	24	35				
FLT3	2322	broad.mit.edu	37	13	28589748	28589748	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:28589748G>A	ENST00000241453.7	-	21	2713	c.2632C>T	c.(2632-2634)Ctg>Ttg	p.L878L	FLT3_ENST00000537084.1_Silent_p.L837L|FLT3_ENST00000380982.4_Silent_p.L881L|FLT3_ENST00000469894.1_5'Flank	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	878	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTCCCACAGTAATATTCCA	0.542			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2632-2634)CTG>TTG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						103.0	99.0	100.0					13																	28589748		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28589748G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2632C>T	13.37:g.28589748G>A						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L	p.L878L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	21	2714	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	878			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2632C>T	CCDS31953.1																																																																																				0.542	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			21	29	0	0	0	0	21	29				
SPERT	220082	broad.mit.edu	37	13	46287473	46287473	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:46287473C>T	ENST00000310521.1	+	3	393	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	SPERT_ENST00000378966.3_Missense_Mutation_p.R69C	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	105						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCATGGAGCGCCCCATGTC	0.667																																						uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(313-315)CGC>TGC		spermatid associated							62.0	65.0	64.0					13																	46287473		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287473C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.313C>T	13.37:g.46287473C>T	ENSP00000309189:p.Arg105Cys					SPERT_uc001vao.2_Missense_Mutation_p.R69C	p.R105C	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	393	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	105					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.313C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928989	0.52759	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.48522	0.81;0.82	4.97	4.13	0.48395	.	0.144218	0.32593	N	0.005896	T	0.47284	0.1437	N	0.22421	0.69	0.44241	D	0.997083	D;D	0.76494	0.999;0.999	P;P	0.56700	0.804;0.804	T	0.51803	-0.8659	10	0.87932	D	0	.	12.0049	0.53252	0.173:0.827:0.0:0.0	.	69;105	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	C	105;78;69	ENSP00000309189:R105C;ENSP00000368249:R69C	ENSP00000309189:R105C	R	+	1	0	SPERT	45185474	0.854000	0.29725	1.000000	0.80357	0.550000	0.35303	1.241000	0.32743	1.318000	0.45170	0.557000	0.71058	CGC		0.667	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		26	48	0	0	0	0	26	48				
PCDH8	5100	broad.mit.edu	37	13	53421570	53421570	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:53421570G>A	ENST00000377942.3	-	1	1205	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	PCDH8_ENST00000338862.4_Silent_p.R334R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGTGGCAGCGCGGGGCCCGG	0.721																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(1000-1002)CGC>CGT		protocadherin 8 isoform 1 precursor							15.0	13.0	14.0					13																	53421570		2029	4054	6083	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421570G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1002C>T	13.37:g.53421570G>A						PCDH8_uc001vhj.2_Silent_p.R334R	p.R334R	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1205	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	334			Extracellular (Potential).|Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.1002C>T	CCDS9438.1																																																																																				0.721	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		8	9	0	0	0	0	8	9				
FNTB	2342	broad.mit.edu	37	14	65453708	65453708	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:65453708C>T	ENST00000246166.2	+	1	271	c.37C>T	c.(37-39)Cca>Tca	p.P13S	FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	13					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTATTGCCCTCCATCTTCCTC	0.562											OREG0022738	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xia.2		NA																	0				ovary(1)	1						c.(37-39)CCA>TCA		farnesyltransferase, CAAX box, beta							90.0	76.0	80.0					14																	65453708		2203	4300	6503	SO:0001583	missense	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65453708C>T		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.37C>T	14.37:g.65453708C>T	ENSP00000246166:p.Pro13Ser		OREG0022738	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|uc001xib.2_5'Flank	p.P13S	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	1	202	+			13					B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.37C>T	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948699	0.34377	.	.	ENSG00000257365	ENST00000246166;ENST00000555372	.	.	.	5.43	4.48	0.54585	.	0.311999	0.28219	N	0.016158	T	0.21427	0.0516	N	0.08118	0	0.27342	N	0.956475	B	0.12630	0.006	B	0.06405	0.002	T	0.05402	-1.0887	9	0.45353	T	0.12	.	8.2429	0.31671	0.0:0.8926:0.0:0.1074	.	13	P49356	FNTB_HUMAN	S	13	.	ENSP00000246166:P13S	P	+	1	0	AL139022.1	64523461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.914000	0.39966	2.827000	0.97445	0.655000	0.94253	CCA		0.562	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		5	34	0	0	0	0	5	34				
NDN	4692	broad.mit.edu	37	15	23931748	23931748	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:23931748C>G	ENST00000331837.4	-	1	702	c.617G>C	c.(616-618)aGa>aCa	p.R206T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	206	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCGCTCTCTCTGGCGCCGCG	0.652									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(616-618)AGA>ACA		necdin							25.0	26.0	25.0					15																	23931748		2200	4294	6494	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931748C>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.617G>C	15.37:g.23931748C>G	ENSP00000332643:p.Arg206Thr						p.R206T	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	703	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	206			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.617G>C	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291813	0.40594	.	.	ENSG00000182636	ENST00000331837	T	0.04654	3.58	3.22	3.22	0.36961	.	0.212735	0.42821	D	0.000655	T	0.02610	0.0079	N	0.02539	-0.55	0.29320	N	0.867397	B	0.32968	0.392	B	0.44224	0.444	T	0.42515	-0.9447	10	0.02654	T	1	.	10.2293	0.43245	0.0:1.0:0.0:0.0	.	206	Q99608	NECD_HUMAN	T	206	ENSP00000332643:R206T	ENSP00000332643:R206T	R	-	2	0	NDN	21482841	0.007000	0.16637	0.796000	0.32109	0.925000	0.55904	1.309000	0.33539	2.114000	0.64651	0.561000	0.74099	AGA		0.652	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		4	39	0	0	0	0	4	39				
OTUD7A	161725	broad.mit.edu	37	15	31776457	31776457	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:31776457C>T	ENST00000307050.4	-	11	1913	c.1821G>A	c.(1819-1821)ccG>ccA	p.P607P	OTUD7A_ENST00000382902.1_Silent_p.P614P	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	607					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTCGCCCCGCGGCCCACCGC	0.697																																						uc001zfq.2		NA																	0				pancreas(1)|skin(1)	2						c.(1819-1821)CCG>CCA		OTU domain containing 7A							12.0	14.0	13.0					15																	31776457		2191	4279	6470	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776457C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1821G>A	15.37:g.31776457C>T						OTUD7A_uc001zfr.2_Silent_p.P614P	p.P607P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1914	-		all_lung(180;1.6e-09)	607					Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.1821G>A	CCDS10026.1																																																																																				0.697	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		4	13	0	0	0	0	4	13				
SPG11	80208	broad.mit.edu	37	15	44944131	44944131	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:44944131C>A	ENST00000261866.7	-	6	1030	c.1014G>T	c.(1012-1014)tgG>tgT	p.W338C	SPG11_ENST00000427534.2_Missense_Mutation_p.W338C|SPG11_ENST00000535302.2_Missense_Mutation_p.W338C|SPG11_ENST00000558319.1_Missense_Mutation_p.W338C|SPG11_ENST00000559193.1_Missense_Mutation_p.W338C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	338					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTGGGCTTTCCAAGACCTGG	0.373																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(1012-1014)TGG>TGT		spatacsin isoform 1							33.0	29.0	30.0					15																	44944131		2198	4297	6495	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44944131C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1014G>T	15.37:g.44944131C>A	ENSP00000261866:p.Trp338Cys					SPG11_uc010ueh.1_Missense_Mutation_p.W338C|SPG11_uc010uei.1_Missense_Mutation_p.W338C|SPG11_uc001zua.1_Missense_Mutation_p.W338C	p.W338C	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	6	1045	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	338			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1014G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.764994	0.69878	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;D;D	0.93953	-3.32;-3.11;-3.07	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96472	0.9349	10	0.87932	D	0	.	18.1738	0.89754	0.0:1.0:0.0:0.0	.	338;338;338;338	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	C	338	ENSP00000261866:W338C;ENSP00000445278:W338C;ENSP00000396110:W338C	ENSP00000261866:W338C	W	-	3	0	SPG11	42731423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.748000	0.62148	2.826000	0.97356	0.655000	0.94253	TGG		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	24	1	0	0.00024832	0.00026567	4	24				
CREBBP	1387	broad.mit.edu	37	16	3801777	3801777	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:3801777C>G	ENST00000262367.5	-	20	4538	c.3729G>C	c.(3727-3729)gaG>gaC	p.E1243D	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1205D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1243	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCTGGATCTCTGTGAAAC	0.522			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3727-3729)GAG>GAC		CREB binding protein isoform a							285.0	199.0	228.0					16																	3801777		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3801777C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3729G>C	16.37:g.3801777C>G	ENSP00000262367:p.Glu1243Asp					CREBBP_uc002cvw.2_Missense_Mutation_p.E1205D	p.E1243D	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	20	3933	-		Ovarian(90;0.0266)	1243			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3729G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114576	0.37339	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84516	-1.86;-1.8	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.87192	0.6116	L	0.41027	1.25	0.58432	D	0.999993	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	D	0.85425	0.1145	10	0.36615	T	0.2	-29.125	10.4431	0.44477	0.0:0.8811:0.0:0.1189	.	1273;1243	Q4LE28;Q92793	.;CBP_HUMAN	D	1243;1273;1205	ENSP00000262367:E1243D;ENSP00000371502:E1205D	ENSP00000262367:E1243D	E	-	3	2	CREBBP	3741778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.641000	0.54360	2.539000	0.85634	0.655000	0.94253	GAG		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	24	0	0	0	0	7	24				
RPGRIP1L	23322	broad.mit.edu	37	16	53730126	53730126	+	Missense_Mutation	SNP	C	C	T	rs374157187		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:53730126C>T	ENST00000379925.3	-	3	217	c.167G>A	c.(166-168)cGt>cAt	p.R56H	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R56H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	56					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCATGCAAACGCAAAAATCT	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					uc002ehp.2		NA																	0				ovary(1)	1						c.(166-168)CGT>CAT		RPGRIP1-like isoform a		C	HIS/ARG,HIS/ARG	0,4396		0,0,2198	173.0	172.0	172.0		167,167	4.8	1.0	16		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPGRIP1L	NM_001127897.1,NM_015272.2	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	56/1236,56/1316	53730126	1,12995	2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730126C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.167G>A	16.37:g.53730126C>T	ENSP00000369257:p.Arg56His					RPGRIP1L_uc002eho.3_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R56H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R56H	p.R56H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			3	231	-		all_cancers(37;0.0973)	56					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.167G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544226	0.86022	0.0	1.16E-4	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.81996	-1.56;-1.56	5.73	4.77	0.60923	.	0.191512	0.45606	D	0.000350	D	0.89914	0.6853	M	0.78456	2.415	0.40721	D	0.982664	D;D;D;D	0.89917	0.987;1.0;1.0;1.0	P;D;D;D	0.72982	0.552;0.967;0.976;0.979	D	0.90690	0.4612	10	0.66056	D	0.02	-3.9069	12.5266	0.56089	0.0:0.8679:0.0:0.1321	.	56;56;56;56	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	56	ENSP00000369257:R56H;ENSP00000262135:R56H	ENSP00000262135:R56H	R	-	2	0	RPGRIP1L	52287627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.772000	0.47678	2.708000	0.92522	0.563000	0.77884	CGT		0.398	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		61	78	0	0	0	0	61	78				
GNAO1	2775	broad.mit.edu	37	16	56309938	56309938	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:56309938G>A	ENST00000262493.6	+	3	1103	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNAO1_ENST00000262494.7_Missense_Mutation_p.R86Q	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	86					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCCATCGTCCGGGCCATGGAC	0.517																																						uc002eit.3		NA																	0				lung(1)|breast(1)	2						c.(256-258)CGG>CAG		guanine nucleotide binding protein, alpha							104.0	87.0	92.0					16																	56309938		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56309938G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.257G>A	16.37:g.56309938G>A	ENSP00000262493:p.Arg86Gln					GNAO1_uc002eiu.3_Missense_Mutation_p.R86Q	p.R86Q	NM_138736	NP_620073	P09471	GNAO_HUMAN			3	1154	+		all_neural(199;0.159)	86					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.257G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822477	0.96989	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.87809	-2.3;-2.3	5.26	5.26	0.73747	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.62723	1.935	0.80722	D	1	D;B	0.61080	0.989;0.361	P;B	0.53912	0.737;0.059	D	0.91333	0.5091	10	0.66056	D	0.02	.	17.8877	0.88862	0.0:0.0:1.0:0.0	.	86;86	P09471;P09471-2	GNAO_HUMAN;.	Q	86	ENSP00000262493:R86Q;ENSP00000262494:R86Q	ENSP00000262493:R86Q	R	+	2	0	GNAO1	54867439	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.467000	0.83353	0.563000	0.77884	CGG		0.517	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		15	35	0	0	0	0	15	35				
CNGB1	1258	broad.mit.edu	37	16	57953017	57953017	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:57953017A>G	ENST00000251102.8	-	20	2003	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	CNGB1_ENST00000564448.1_Missense_Mutation_p.I642T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	648					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGCGGGTCAATGCTCTGGGG	0.577																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(1942-1944)ATT>ACT		cyclic nucleotide gated channel beta 1 isoform							83.0	87.0	86.0					16																	57953017		2000	4188	6188	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57953017A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1943T>C	16.37:g.57953017A>G	ENSP00000251102:p.Ile648Thr					CNGB1_uc010cdh.2_Missense_Mutation_p.I642T	p.I648T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			20	2008	-			648			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1943T>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592058	0.66219	.	.	ENSG00000070729	ENST00000251102	D	0.97976	-4.64	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	D	0.98679	0.9557	M	0.89353	3.025	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.68765	0.908;0.96	D	0.99548	1.0965	10	0.87932	D	0	.	13.4826	0.61345	1.0:0.0:0.0:0.0	.	20;648	Q14028-2;Q14028	.;CNGB1_HUMAN	T	648	ENSP00000251102:I648T	ENSP00000251102:I648T	I	-	2	0	CNGB1	56510518	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.756000	0.85195	2.126000	0.65437	0.459000	0.35465	ATT		0.577	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		17	34	0	0	0	0	17	34				
FAM96B	51647	broad.mit.edu	37	16	66969411	66969411	+	5'Flank	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:66969411T>C	ENST00000422424.2	-	0	0				CES2_ENST00000417689.1_Missense_Mutation_p.L22P|CES2_ENST00000317091.4_Missense_Mutation_p.L22P	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CGCACCCCGCTGACTCCCTGC	0.667																																						uc002eqr.2		NA																	0					0						c.(64-66)CTG>CCG		carboxylesterase 2 isoform 1							75.0	85.0	82.0					16																	66969411		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969411T>C		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969411T>C	Exception_encountered					CES2_uc002eqq.2_Missense_Mutation_p.L22P|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	p.L22P	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1065	+		Ovarian(137;0.0563)	Error:Variant_position_missing_in_O00748_after_alignment						Missense_Mutation	SNP	ENST00000422424.2	37	c.65T>C	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529190	0.27387	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.69040	-0.37;-0.37	4.36	1.36	0.22044	.	.	.	.	.	T	0.39462	0.1079	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	9	0.46703	T	0.11	.	6.3022	0.21119	0.0:0.609:0.138:0.2531	.	22	A8K367	.	P	22	ENSP00000394452:L22P;ENSP00000317842:L22P	ENSP00000317842:L22P	L	+	2	0	CES2	65526912	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.149000	0.16243	-0.102000	0.12197	-2.216000	0.00297	CTG		0.667	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		61	71	0	0	0	0	61	71				
FHOD1	29109	broad.mit.edu	37	16	67267888	67267888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:67267888G>T	ENST00000258201.4	-	13	1965	c.1718C>A	c.(1717-1719)tCa>tAa	p.S573*		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	573	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGTGGGGGTGAGGGAGCTGG	0.602																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(1717-1719)TCA>TAA		formin homology 2 domain containing 1							37.0	37.0	37.0					16																	67267888		2198	4300	6498	SO:0001587	stop_gained	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67267888G>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1718C>A	16.37:g.67267888G>T	ENSP00000258201:p.Ser573*					FHOD1_uc010ced.2_Nonsense_Mutation_p.S380*|FHOD1_uc010vjh.1_Nonsense_Mutation_p.S233*	p.S573*	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	13	1830	-		Ovarian(137;0.0563)	573			FH1.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Nonsense_Mutation	SNP	ENST00000258201.4	37	c.1718C>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684365	0.88639	.	.	ENSG00000135723	ENST00000258201	.	.	.	4.58	4.58	0.56647	.	0.164808	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	10.4076	0.44274	0.0905:0.0:0.9095:0.0	.	.	.	.	X	573	.	ENSP00000258201:S573X	S	-	2	0	FHOD1	65825389	0.936000	0.31750	0.084000	0.20598	0.141000	0.21300	1.931000	0.40134	2.256000	0.74724	0.561000	0.74099	TCA		0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			7	53	1	0	0.000157383	0.000169118	7	53				
CD68	968	broad.mit.edu	37	17	7483866	7483866	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7483866C>T	ENST00000250092.6	+	3	861	c.650C>T	c.(649-651)tCa>tTa	p.S217L	AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000572046.1_RNA|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000380498.6_Missense_Mutation_p.S190L	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	217					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						CTGCTTCTCTCATTCCCCTAT	0.577																																						uc002ghv.2		NA																	0					0						c.(649-651)TCA>TTA		CD68 antigen isoform A							172.0	169.0	170.0					17																	7483866		2203	4300	6503	SO:0001583	missense	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483866C>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.650C>T	17.37:g.7483866C>T	ENSP00000250092:p.Ser217Leu					CD68_uc002ghu.2_Missense_Mutation_p.S190L	p.S217L	NM_001251	NP_001242	P34810	CD68_HUMAN			3	841	+			217			Extracellular (Potential).		B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	c.650C>T	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779523	0.49891	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.35421	1.31	5.84	3.76	0.43208	.	0.139517	0.33591	N	0.004751	T	0.38268	0.1034	M	0.77820	2.39	0.33930	D	0.641967	B;B	0.20052	0.041;0.041	B;B	0.23419	0.046;0.046	T	0.53136	-0.8481	10	0.72032	D	0.01	-10.024	7.434	0.27145	0.0:0.745:0.1675:0.0874	.	217;190	P34810;B4DVT4	CD68_HUMAN;.	L	217;160	ENSP00000250092:S217L	ENSP00000250092:S217L	S	+	2	0	CD68	7424590	0.929000	0.31497	1.000000	0.80357	0.998000	0.95712	0.976000	0.29462	1.477000	0.48234	0.655000	0.94253	TCA		0.577	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		9	80	0	0	0	0	9	80				
TP53	7157	broad.mit.edu	37	17	7577575	7577575	+	Missense_Mutation	SNP	A	A	C	rs587782289		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7577575A>C	ENST00000269305.4	-	7	895	c.706T>G	c.(706-708)Tac>Gac	p.Y236D	TP53_ENST00000420246.2_Missense_Mutation_p.Y236D|TP53_ENST00000445888.2_Missense_Mutation_p.Y236D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236D|TP53_ENST00000359597.4_Missense_Mutation_p.Y236D|TP53_ENST00000455263.2_Missense_Mutation_p.Y236D	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236N(12)|p.Y236D(9)|p.Y236H(9)|p.0?(8)|p.?(5)|p.Y236del(4)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236fs*5(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y143D(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	TTACACATGTAGTTGTAGTGG	0.577		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		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		59	Substitution - Missense(31)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(3)|Deletion - Frameshift(3)	p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236fs*4(2)|p.Y236Y(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	upper_aerodigestive_tract(11)|biliary_tract(6)|central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(6)|oesophagus(4)|breast(4)|bone(4)|skin(3)|ovary(3)|pancreas(3)|stomach(2)|liver(2)|lung(2)|eye(1)|urinary_tract(1)|prostate(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						c.(706-708)TAC>GAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							124.0	98.0	107.0					17																	7577575		2203	4300	6503	SO:0001583	missense	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.chr17:7577575A>C	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.706T>G	17.37:g.7577575A>C	ENSP00000269305:p.Tyr236Asp	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_Missense_Mutation_p.Y236D|TP53_uc002gih.2_Missense_Mutation_p.Y236D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104D|TP53_uc010cng.1_Missense_Mutation_p.Y104D|TP53_uc002gii.1_Missense_Mutation_p.Y104D|TP53_uc010cnh.1_Missense_Mutation_p.Y236D|TP53_uc010cni.1_Missense_Mutation_p.Y236D|TP53_uc002gij.2_Missense_Mutation_p.Y236D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143D|TP53_uc002gio.2_Missense_Mutation_p.Y104D	p.Y236D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	900	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.706T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965918	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.62	3.54	0.40534	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99597	0.9854	M	0.74258	2.255	0.46131	D	0.998888	D;P;D;D;D;D	0.89917	0.993;0.94;0.999;0.991;0.997;1.0	D;P;D;D;D;D	0.80764	0.965;0.725;0.986;0.979;0.989;0.994	D	0.98779	1.0731	10	0.87932	D	0	-12.7522	8.419	0.32690	0.9059:0.0:0.0941:0.0	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236D;ENSP00000352610:Y236D;ENSP00000269305:Y236D;ENSP00000398846:Y236D;ENSP00000391127:Y236D;ENSP00000391478:Y236D;ENSP00000425104:Y104D;ENSP00000423862:Y143D	ENSP00000269305:Y236D	Y	-	1	0	TP53	7518300	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.074000	0.93998	0.914000	0.36822	0.379000	0.24179	TAC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	15	0	0	0	0	23	15				
CUEDC1	404093	broad.mit.edu	37	17	55957093	55957093	+	Missense_Mutation	SNP	C	C	G	rs375350744		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:55957093C>G	ENST00000577830.1	-	3	756	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	CUEDC1_ENST00000577840.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.E115Q|CUEDC1_ENST00000360238.2_Missense_Mutation_p.E115Q	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	115	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AAAGTCCTTTCCAAGATCTAA	0.483																																						uc002ivd.1		NA																	0				skin(2)	2						c.(343-345)GAA>CAA		CUE domain-containing 1		C	GLN/GLU	0,4406		0,0,2203	64.0	70.0	68.0		343	5.3	1.0	17		68	1,8599		0,1,4299	no	missense	CUEDC1	NM_017949.1	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	115/387	55957093	1,13005	2203	4300	6503	SO:0001583	missense	404093							g.chr17:55957093C>G	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.343G>C	17.37:g.55957093C>G	ENSP00000462717:p.Glu115Gln					CUEDC1_uc002ive.1_Missense_Mutation_p.E115Q	p.E115Q	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN			3	1062	-			115			Pro-rich.		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.343G>C	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703086	0.88924	0.0	1.16E-4	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.27557	1.66;1.66	5.28	5.28	0.74379	.	0.050106	0.85682	D	0.000000	T	0.57095	0.2030	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57294	-0.7836	10	0.49607	T	0.09	.	18.9486	0.92632	0.0:1.0:0.0:0.0	.	115	Q9NWM3	CUED1_HUMAN	Q	115	ENSP00000384712:E115Q;ENSP00000353373:E115Q	ENSP00000353373:E115Q	E	-	1	0	CUEDC1	53312092	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.223000	0.78033	2.479000	0.83701	0.655000	0.94253	GAA		0.483	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		3	59	0	0	0	0	3	59				
ROCK1	6093	broad.mit.edu	37	18	18629142	18629142	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr18:18629142T>C	ENST00000399799.2	-	4	1265	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTTCAAATTTGCTGAGAAGC	0.363																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(325-327)AAA>GAA		Rho-associated, coiled-coil containing protein							98.0	101.0	100.0					18																	18629142		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18629142T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.325A>G	18.37:g.18629142T>C	ENSP00000382697:p.Lys109Glu						p.K109E	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			4	1266	-	Melanoma(1;0.165)		109			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.325A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	34	5.307277	0.95629	.	.	ENSG00000067900	ENST00000399799	T	0.68025	-0.3	5.94	5.94	0.96194	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	D	0.84844	0.5562	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	10	0.87932	D	0	.	16.3985	0.83631	0.0:0.0:0.0:1.0	.	109	Q13464	ROCK1_HUMAN	E	109	ENSP00000382697:K109E	ENSP00000382697:K109E	K	-	1	0	ROCK1	16883140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.032000	0.88838	2.274000	0.75844	0.519000	0.50382	AAA		0.363	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		12	75	0	0	0	0	12	75				
UBXN6	80700	broad.mit.edu	37	19	4446549	4446549	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:4446549C>A	ENST00000301281.6	-	8	992	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	UBXN6_ENST00000394765.3_Missense_Mutation_p.G237W|MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	290						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AAGAAGTCCCCAGGCAGTTCG	0.682																																						uc002man.1		NA																	0					0						c.(868-870)GGG>TGG		UBX domain protein 6							26.0	28.0	27.0					19																	4446549		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446549C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.868G>T	19.37:g.4446549C>A	ENSP00000301281:p.Gly290Trp					UBXN6_uc010dty.1_Missense_Mutation_p.G194W|UBXN6_uc002mam.1_Missense_Mutation_p.G237W	p.G290W	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			8	964	-			290					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.868G>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572157	0.28092	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.30182	1.96;1.54	5.24	1.75	0.24633	.	1.035740	0.07529	N	0.911799	T	0.31263	0.0791	L	0.36672	1.1	0.09310	N	1	D;D	0.58620	0.971;0.983	P;P	0.50754	0.649;0.497	T	0.16808	-1.0390	10	0.66056	D	0.02	-6.6797	4.356	0.11178	0.2613:0.4261:0.2405:0.0721	.	237;290	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	W	290;237	ENSP00000301281:G290W;ENSP00000378246:G237W	ENSP00000301281:G290W	G	-	1	0	UBXN6	4397549	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.132000	0.15891	0.159000	0.19401	0.491000	0.48974	GGG		0.682	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		6	25	1	0	2.01e-06	2.23e-06	6	25				
LONP1	9361	broad.mit.edu	37	19	5700888	5700888	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:5700888T>C	ENST00000360614.3	-	9	1575	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	LONP1_ENST00000593119.1_Missense_Mutation_p.Y409C|LONP1_ENST00000590729.1_Missense_Mutation_p.Y343C|LONP1_ENST00000585374.1_Missense_Mutation_p.Y359C|LONP1_ENST00000540670.2_Missense_Mutation_p.Y277C	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTTGCTGTACTTGCCCCA	0.607																																						uc002mcx.2		NA																	0					0						c.(1417-1419)TAC>TGC		mitochondrial lon peptidase 1 precursor							225.0	157.0	180.0					19																	5700888		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5700888T>C	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1418A>G	19.37:g.5700888T>C	ENSP00000353826:p.Tyr473Cys					LONP1_uc002mcy.2_Missense_Mutation_p.Y409C|LONP1_uc010duh.2_Missense_Mutation_p.Y214C|LONP1_uc010dui.2_Missense_Mutation_p.Y457C|LONP1_uc002mcz.2_Missense_Mutation_p.Y277C	p.Y473C	NM_004793	NP_004784	P36776	LONM_HUMAN			9	1451	-			473						Missense_Mutation	SNP	ENST00000360614.3	37	c.1418A>G	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	T	5.890	0.348293	0.11126	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.22539	1.95;1.95	4.57	3.56	0.40772	.	0.462396	0.23472	N	0.047815	T	0.21590	0.0520	M	0.68317	2.08	0.22489	N	0.999052	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.17501	-1.0367	10	0.39692	T	0.17	-5.9438	8.2692	0.31833	0.0:0.097:0.0:0.903	.	473;409;473	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	C	473;437;277	ENSP00000353826:Y473C;ENSP00000441523:Y277C	ENSP00000351177:Y437C	Y	-	2	0	LONP1	5651888	1.000000	0.71417	0.129000	0.21949	0.141000	0.21300	3.117000	0.50407	0.618000	0.30179	0.459000	0.35465	TAC		0.607	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		24	73	0	0	0	0	24	73				
EXOC3L2	90332	broad.mit.edu	37	19	45719340	45719340	+	Missense_Mutation	SNP	G	G	T	rs376151016		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:45719340G>T	ENST00000252482.3	-	8	959	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.P311Q|AC006126.3_ENST00000591569.1_Intron			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	311					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCTGATGTCTGGGTAGTCGCG	0.657																																						uc002pay.1		NA																	0				ovary(1)	1						c.(931-933)CCA>CAA		exocyst complex component 3-like 2							66.0	51.0	56.0					19																	45719340		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45719340G>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.932C>A	19.37:g.45719340G>T	ENSP00000252482:p.Pro311Gln						p.P311Q	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	9	973	-		all_neural(266;0.224)|Ovarian(192;0.231)	311					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.932C>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201186	0.79015	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.10192	2.9;2.9	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	M	0.73217	2.22	0.50467	D	0.999875	D	0.89917	1.0	D	0.97110	1.0	T	0.02728	-1.1118	10	0.66056	D	0.02	.	12.834	0.57763	0.0:0.0:1.0:0.0	.	311	Q2M3D2	EX3L2_HUMAN	Q	311	ENSP00000252482:P311Q;ENSP00000400713:P311Q	ENSP00000252482:P311Q	P	-	2	0	EXOC3L2	50411180	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.200000	0.77838	2.149000	0.67028	0.555000	0.69702	CCA		0.657	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		15	35	1	0	6.32e-08	7.1e-08	15	35				
CCDC8	83987	broad.mit.edu	37	19	46915759	46915759	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46915759G>A	ENST00000307522.3	-	1	1082	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	103					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACTCGCTGTCGCTGGCGTTGC	0.652																																						uc002pep.2		NA																	0				ovary(3)	3						c.(307-309)AGC>AGT		coiled-coil domain containing 8							63.0	65.0	64.0					19																	46915759		2203	4299	6502	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915759G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.309C>T	19.37:g.46915759G>A							p.S103S	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1161	-			103					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.309C>T	CCDS12685.1																																																																																				0.652	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		17	122	0	0	0	0	17	122				
PNMAL2	57469	broad.mit.edu	37	19	46998417	46998417	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46998417G>A	ENST00000377655.2	-	1	305	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.R176R|PNMAL2_ENST00000599531.1_Silent_p.V102V			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	102										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTGCCTCAGGACCCTCGTGT	0.677																																						uc002pes.2		NA																	0				central_nervous_system(1)	1						c.(304-306)GTC>GTT		PNMA-like 2							107.0	113.0	111.0					19																	46998417		2203	4300	6503	SO:0001819	synonymous_variant	57469							g.chr19:46998417G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.306C>T	19.37:g.46998417G>A						uc002peu.1_Silent_p.R176R	p.V102V	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	753	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	102					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.306C>T																																																																																					0.677	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		27	169	0	0	0	0	27	169				
ZNF134	7693	broad.mit.edu	37	19	58131571	58131571	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:58131571G>A	ENST00000396161.5	+	3	394	c.84G>A	c.(82-84)caG>caA	p.Q28Q	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTCTGAACAGAGCATTTCTA	0.453																																						uc002qpn.2		NA																	0					0						c.(82-84)CAG>CAA		zinc finger protein 134							98.0	95.0	96.0					19																	58131571		2076	4237	6313	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131571G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.84G>A	19.37:g.58131571G>A						ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank	p.Q28Q	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	183	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	28					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.84G>A	CCDS42638.1																																																																																				0.453	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		34	49	0	0	0	0	34	49				
DTNB	1838	broad.mit.edu	37	2	25803661	25803661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:25803661A>C	ENST00000406818.3	-	7	887	c.638T>G	c.(637-639)aTg>aGg	p.M213R	DTNB_ENST00000407186.1_Missense_Mutation_p.M213R|DTNB_ENST00000545439.1_Missense_Mutation_p.M9R|DTNB_ENST00000404103.3_Missense_Mutation_p.M213R|DTNB_ENST00000288642.8_Missense_Mutation_p.M213R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.M156R|DTNB_ENST00000407661.3_Missense_Mutation_p.M213R|DTNB_ENST00000405222.1_Missense_Mutation_p.M213R|DTNB_ENST00000407038.3_Missense_Mutation_p.M213R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	213						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCATTGTGTCTAA	0.383																																						uc002rgh.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(637-639)ATG>AGG		dystrobrevin, beta isoform 1							112.0	121.0	118.0					2																	25803661		1885	4105	5990	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25803661A>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.638T>G	2.37:g.25803661A>C	ENSP00000384084:p.Met213Arg					DTNB_uc010yko.1_Missense_Mutation_p.M156R|DTNB_uc010ykp.1_Missense_Mutation_p.M9R|DTNB_uc002rgo.2_Missense_Mutation_p.M34R|DTNB_uc002rgi.2_Missense_Mutation_p.M213R|DTNB_uc002rgj.2_Missense_Mutation_p.M213R|DTNB_uc002rgk.2_Missense_Mutation_p.M213R|DTNB_uc002rgl.2_Missense_Mutation_p.M213R|DTNB_uc002rgq.2_Missense_Mutation_p.M213R|DTNB_uc002rgm.2_Missense_Mutation_p.M213R|DTNB_uc002rgn.2_Missense_Mutation_p.M9R|DTNB_uc002rgr.1_Missense_Mutation_p.M202R|DTNB_uc010ykq.1_Missense_Mutation_p.M66R	p.M213R	NM_021907	NP_068707	O60941	DTNB_HUMAN			7	888	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		213					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.638T>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006278	0.54361	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.17	5.17	0.71159	EF-hand domain, type 2 (1);	0.155567	0.64402	D	0.000012	T	0.79924	0.4530	M	0.68952	2.095	0.50813	D	0.999895	B;B;B;B;B;B;B;B;B;B;B;B	0.26876	0.162;0.162;0.067;0.155;0.083;0.162;0.051;0.162;0.134;0.134;0.067;0.036	B;B;B;B;B;B;B;B;B;B;B;B	0.42625	0.393;0.317;0.095;0.306;0.154;0.317;0.217;0.217;0.212;0.212;0.15;0.233	T	0.80710	-0.1261	10	0.87932	D	0	-10.2893	14.1345	0.65279	1.0:0.0:0.0:0.0	.	213;9;156;213;213;156;213;213;213;213;213;213	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	R	156;213;213;213;213;213;213;213;9;66	ENSP00000444463:M156R;ENSP00000384084:M213R;ENSP00000385482:M213R;ENSP00000385193:M213R;ENSP00000384767:M213R;ENSP00000384787:M213R;ENSP00000385784:M213R;ENSP00000288642:M213R;ENSP00000444961:M9R	ENSP00000288642:M213R	M	-	2	0	DTNB	25657165	1.000000	0.71417	0.955000	0.39395	0.814000	0.46013	9.287000	0.95975	2.076000	0.62316	0.402000	0.26972	ATG		0.383	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		5	53	0	0	0	0	5	53				
ACOXL	55289	broad.mit.edu	37	2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:111666433C>T	ENST00000389811.4	+	11	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACAGACCCTGCGGCTGATGCC	0.547																																						uc002tgr.3		NA																	0					0						c.(856-858)CGG>TGG		acyl-Coenzyme A oxidase-like 2							103.0	97.0	99.0					2																	111666433		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111666433C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.856C>T	2.37:g.111666433C>T	ENSP00000374461:p.Arg286Trp					ACOXL_uc010fkc.2_Missense_Mutation_p.R286W|ACOXL_uc010yxk.1_Missense_Mutation_p.R286W	p.R286W	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			11	1080	+			286					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.856C>T		.	.	.	.	.	.	.	.	.	.	c	5.224	0.226900	0.09916	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.72725	-0.68;-0.68;-0.68	5.15	0.937	0.19494	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.437841	0.18864	N	0.129039	T	0.81692	0.4876	M	0.93150	3.385	0.32298	N	0.565398	B;B;P	0.47962	0.445;0.391;0.903	B;B;P	0.53809	0.11;0.046;0.735	T	0.81865	-0.0736	10	0.87932	D	0	-23.9328	7.4993	0.27509	0.2519:0.5999:0.0:0.1482	.	286;286;286	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	W	286;286;137;124	ENSP00000374461:R286W;ENSP00000407761:R286W;ENSP00000387832:R124W	ENSP00000374461:R286W	R	+	1	2	ACOXL	111382904	0.047000	0.20315	0.014000	0.15608	0.190000	0.23558	0.142000	0.16096	-0.413000	0.07507	-0.810000	0.03169	CGG		0.547	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		9	49	0	0	0	0	9	49				
MAP2	4133	broad.mit.edu	37	2	210559034	210559034	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:210559034C>G	ENST00000360351.4	+	7	2646	c.2140C>G	c.(2140-2142)Ctt>Gtt	p.L714V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L710V|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	714					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.L714I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTCCATAGCCCTTGGATTTAA	0.443																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2140-2142)CTT>GTT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						226.0	219.0	221.0					2																	210559034		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559034C>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2140C>G	2.37:g.210559034C>G	ENSP00000353508:p.Leu714Val					MAP2_uc002vdc.1_Missense_Mutation_p.L714V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L710V	p.L714V	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2388	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	714					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2140C>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516329	0.64634	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26660	1.72;1.72	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.53938	D	0.000043	T	0.46889	0.1416	L	0.59436	1.845	0.45307	D	0.998303	D;D	0.71674	0.998;0.998	D;D	0.69654	0.941;0.965	T	0.33675	-0.9859	10	0.87932	D	0	-14.6813	14.7345	0.69406	0.0:0.9315:0.0:0.0685	.	710;714	P11137-3;P11137	.;MAP2_HUMAN	V	714;710	ENSP00000353508:L714V;ENSP00000392164:L710V	ENSP00000353508:L714V	L	+	1	0	MAP2	210267279	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.147000	0.42226	2.879000	0.98667	0.650000	0.86243	CTT		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		46	75	0	0	0	0	46	75				
RBCK1	10616	broad.mit.edu	37	20	398533	398533	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:398533C>G	ENST00000356286.5	+	4	1124	c.419C>G	c.(418-420)cCt>cGt	p.P140R	RBCK1_ENST00000353660.3_Missense_Mutation_p.P98R|RBCK1_ENST00000382181.2_Missense_Mutation_p.L24V	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	140	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCCCTCAACCCTCAGGAGCTG	0.672																																						uc002wdp.3		NA																	0					0						c.(418-420)CCT>CGT		RanBP-type and C3HC4-type zinc finger containing							30.0	29.0	29.0					20																	398533		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398533C>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.419C>G	20.37:g.398533C>G	ENSP00000348632:p.Pro140Arg					RBCK1_uc010zpl.1_Missense_Mutation_p.P140R|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.P98R|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L24V	p.P140R	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			4	1112	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	140			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.419C>G	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.434497|1.434497	0.25813|0.25813	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000382181;ENST00000414880|ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T|T;T	0.54479|0.16073	0.57|2.38;2.37	4.77|4.77	3.76|3.76	0.43208|0.43208	.|.	.|0.307754	.|0.32190	.|N	.|0.006443	T|T	0.10078|0.10078	0.0247|0.0247	N|N	0.16233|0.16233	0.39|0.39	0.53005|0.53005	D|D	0.999968|0.999968	B|B;B;B	0.17667|0.15930	0.023|0.015;0.01;0.005	B|B;B;B	0.16722|0.14023	0.016|0.007;0.01;0.002	T|T	0.15983|0.15983	-1.0418|-1.0418	8|9	.|.	.|.	.|.	-14.4058|-14.4058	12.205|12.205	0.54346|0.54346	0.1709:0.8291:0.0:0.0|0.1709:0.8291:0.0:0.0	.|.	24|130;98;140	A6PVK0|B4E0F5;Q9BYM8-3;Q9BYM8	.|.;.;HOIL1_HUMAN	V|R	24;173|140;98;140;181	ENSP00000371616:L24V|ENSP00000348632:P140R;ENSP00000254960:P98R	.|.	L|P	+|+	1|2	0|0	RBCK1|RBCK1	346533|346533	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	0.135000|0.135000	0.15952|0.15952	2.639000|2.639000	0.89480|0.89480	0.455000|0.455000	0.32223|0.32223	CTC|CCT		0.672	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		8	24	0	0	0	0	8	24				
BPI	671	broad.mit.edu	37	20	36932638	36932638	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:36932638C>A	ENST00000262865.4	+	1	114	c.25C>A	c.(25-27)Cct>Act	p.P9T	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	9					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGCCAGGGGCCCTTGCAACGC	0.607																																						uc002xib.2		NA																	0				ovary(4)	4						c.(25-27)CCT>ACT		bactericidal/permeability-increasing protein							76.0	77.0	77.0					20																	36932638		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36932638C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.25C>A	20.37:g.36932638C>A	ENSP00000262865:p.Pro9Thr						p.P9T	NM_001725	NP_001716	P17213	BPI_HUMAN			1	87	+		Myeloproliferative disorder(115;0.00878)	9					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.25C>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795452	0.16327	.	.	ENSG00000101425	ENST00000418004;ENST00000262865	T;T	0.29655	1.56;3.3	3.16	3.16	0.36331	.	1.311210	0.05200	N	0.504732	T	0.40067	0.1102	M	0.68317	2.08	0.09310	N	1	D	0.54207	0.965	P	0.45449	0.481	T	0.38067	-0.9678	10	0.72032	D	0.01	-0.593	10.1365	0.42710	0.0:1.0:0.0:0.0	.	9	P17213	BPI_HUMAN	T	92;9	ENSP00000393126:P92T;ENSP00000262865:P9T	ENSP00000262865:P9T	P	+	1	0	BPI	36366052	0.001000	0.12720	0.134000	0.22075	0.297000	0.27493	1.200000	0.32247	2.120000	0.65058	0.650000	0.86243	CCT		0.607	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		33	73	1	0	1.22e-17	1.41e-17	33	73				
ZNF831	128611	broad.mit.edu	37	20	57769698	57769698	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:57769698G>A	ENST00000371030.2	+	1	3624	c.3624G>A	c.(3622-3624)gcG>gcA	p.A1208A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1208							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTACTTGGCGGTGCACTTTC	0.642																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3622-3624)GCG>GCA		zinc finger protein 831							31.0	36.0	35.0					20																	57769698		2097	4229	6326	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769698G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3624G>A	20.37:g.57769698G>A							p.A1208A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3624	+	all_lung(29;0.0085)		1208					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3624G>A	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	18	0	0	0	0	10	18				
RTCB	51493	broad.mit.edu	37	22	32784017	32784017	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:32784017C>T	ENST00000216038.5	-	12	1578	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	RTCB_ENST00000451746.2_3'UTR|RP1-149A16.17_ENST00000444848.1_lincRNA	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AGTTTAATGGCTTTCTTGCTG	0.463																																						uc003amm.2		NA																	0					0						c.(1480-1482)GCC>ACC		hypothetical protein LOC51493							209.0	172.0	185.0					22																	32784017		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32784017C>T	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1480G>A	22.37:g.32784017C>T	ENSP00000216038:p.Ala494Thr						p.A494T	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			12	1611	-			494						Missense_Mutation	SNP	ENST00000216038.5	37	c.1480G>A	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862062	0.71949	.	.	ENSG00000100220	ENST00000216038	T	0.29917	1.55	5.92	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.17979	0.02	T	0.03587	-1.1022	10	0.62326	D	0.03	-30.7616	12.9347	0.58307	0.0:0.8681:0.0:0.1319	.	494	Q9Y3I0	RTCB_HUMAN	T	494	ENSP00000216038:A494T	ENSP00000216038:A494T	A	-	1	0	C22orf28	31114017	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.936000	0.63506	0.848000	0.35191	0.655000	0.94253	GCC		0.463	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		4	23	0	0	0	0	4	23				
TCF20	6942	broad.mit.edu	37	22	42605941	42605941	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:42605941G>A	ENST00000359486.3	-	1	5507	c.5371C>T	c.(5371-5373)Cgc>Tgc	p.R1791C	TCF20_ENST00000404876.1_Missense_Mutation_p.R92C|TCF20_ENST00000335626.4_Missense_Mutation_p.R1791C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCGAGCGGTGGCGCCGC	0.597																																						uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(5371-5373)CGC>TGC		transcription factor 20 isoform 1							56.0	62.0	60.0					22																	42605941		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605941G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5371C>T	22.37:g.42605941G>A	ENSP00000352463:p.Arg1791Cys					TCF20_uc003bck.1_Missense_Mutation_p.R1791C|TCF20_uc003bnt.2_Missense_Mutation_p.R1791C	p.R1791C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5505	-			1791			Nuclear localization signal (By similarity).		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5371C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132730	0.56828	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.70516	0.11;0.11;-0.49	6.07	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	L	0.60455	1.87	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.84571	0.0655	10	0.87932	D	0	-16.5631	17.5414	0.87849	0.0:0.1236:0.8764:0.0	.	1791;1791	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	1791;1791;92	ENSP00000352463:R1791C;ENSP00000335561:R1791C;ENSP00000385531:R92C	ENSP00000335561:R1791C	R	-	1	0	TCF20	40935885	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.706000	0.68362	1.567000	0.49668	0.655000	0.94253	CGC		0.597	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		16	46	0	0	0	0	16	46				
ACKR2	1238	broad.mit.edu	37	3	42906038	42906038	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:42906038C>T	ENST00000422265.1	+	3	219	c.44C>T	c.(43-45)gCc>gTc	p.A15V	CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.A15V|ACKR2_ENST00000442925.1_Missense_Mutation_p.A15V	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	15					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										ACTGAGGATGCCGATTCTGAG	0.542																																						uc003cme.2		NA																	0				lung(4)|skin(1)	5						c.(43-45)GCC>GTC		chemokine binding protein 2							72.0	69.0	70.0					3																	42906038		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906038C>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.44C>T	3.37:g.42906038C>T	ENSP00000416996:p.Ala15Val					CCBP2_uc003cmd.1_Missense_Mutation_p.A15V|CCBP2_uc003cmf.2_Missense_Mutation_p.A15V|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.A15V	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	223	+			15			Extracellular (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.44C>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155996	0.38021	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.37235	1.21;1.21;1.21	5.31	1.46	0.22682	.	2.790610	0.01756	U	0.030258	T	0.25975	0.0633	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.11036	-1.0604	9	.	.	.	.	4.6499	0.12589	0.0:0.5056:0.1513:0.3431	.	15;15	O00590;Q7Z7I1	CCBP2_HUMAN;.	V	15	ENSP00000396150:A15V;ENSP00000416996:A15V;ENSP00000273145:A15V	.	A	+	2	0	CCBP2	42881042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.192000	0.09587	0.224000	0.20940	0.563000	0.77884	GCC		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		3	27	0	0	0	0	3	27				
RBM5	10181	broad.mit.edu	37	3	50144992	50144992	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:50144992C>T	ENST00000347869.3	+	12	1206	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	344	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCAGTGGTCATCCACCCAG	0.512																																						uc003cyg.2		NA																	0				lung(1)	1						c.(1030-1032)TCA>TTA		RNA binding motif protein 5							153.0	128.0	136.0					3																	50144992		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50144992C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1031C>T	3.37:g.50144992C>T	ENSP00000343054:p.Ser344Leu					RBM5_uc011bdj.1_Missense_Mutation_p.S288L|RBM5_uc011bdk.1_Missense_Mutation_p.S172L	p.S344L	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1179	+			344			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1031C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968646	0.74131	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15256	2.44	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.48362	1.52	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.02728	-1.1118	10	0.26408	T	0.33	-7.2217	15.2504	0.73539	0.0:0.9331:0.0:0.0669	.	34;344	Q59HE6;P52756	.;RBM5_HUMAN	L	344;343;34	ENSP00000343054:S344L	ENSP00000343054:S344L	S	+	2	0	RBM5	50119996	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	7.696000	0.84270	1.566000	0.49654	-0.142000	0.14014	TCA		0.512	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		14	18	0	0	0	0	14	18				
BBX	56987	broad.mit.edu	37	3	107492402	107492402	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:107492402G>A	ENST00000325805.8	+	11	2121	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E612K|BBX_ENST00000415149.2_Missense_Mutation_p.E612K|BBX_ENST00000406780.1_Missense_Mutation_p.E612K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	612					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGGAAATCCGAGAGGTCTTG	0.483																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1834-1836)GAG>AAG		HMG-BOX transcription factor BBX isoform 1							73.0	73.0	73.0					3																	107492402		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492402G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1834G>A	3.37:g.107492402G>A	ENSP00000319974:p.Glu612Lys					BBX_uc003dwk.3_Missense_Mutation_p.E612K|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E633K|BBX_uc003dwm.3_Missense_Mutation_p.E612K|BBX_uc003dwo.3_5'Flank	p.E612K	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	2161	+			612					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1834G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291540	0.95546	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.07	6.07	0.98685	.	0.090866	0.85682	D	0.000000	T	0.66436	0.2789	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.66810	-0.5829	10	0.87932	D	0	-17.7991	20.6525	0.99598	0.0:0.0:1.0:0.0	.	612;612;612	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	K	612	ENSP00000408358:E612K;ENSP00000385317:E612K;ENSP00000319974:E612K;ENSP00000385530:E612K	ENSP00000319974:E612K	E	+	1	0	BBX	108975092	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.434000	0.97515	2.890000	0.99128	0.585000	0.79938	GAG		0.483	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		13	50	0	0	0	0	13	50				
LRRC58	116064	broad.mit.edu	37	3	120053938	120053938	+	Nonsense_Mutation	SNP	A	A	C	rs373417962		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120053938A>C	ENST00000295628.3	-	3	773	c.678T>G	c.(676-678)taT>taG	p.Y226*		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	226										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTCGAGGCAGATATGTCAGCA	0.363																																						uc003edr.2		NA																	0					0						c.(676-678)TAT>TAG		leucine rich repeat containing 58		A	stop/TYR	0,3746		0,0,1873	105.0	96.0	99.0		678	2.5	1.0	3		99	1,8209		0,1,4104	no	stop-gained	LRRC58	NM_001099678.1		0,1,5977	CC,CA,AA		0.0122,0.0,0.0084		226/372	120053938	1,11955	1873	4105	5978	SO:0001587	stop_gained	116064							g.chr3:120053938A>C	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.678T>G	3.37:g.120053938A>C	ENSP00000295628:p.Tyr226*						p.Y226*	NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	774	-			226			LRR 8.			Nonsense_Mutation	SNP	ENST00000295628.3	37	c.678T>G	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	A	32	5.174029	0.94807	0.0	1.22E-4	ENSG00000163428	ENST00000295628	.	.	.	5.37	2.45	0.29901	.	0.056112	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6644	7.5227	0.27637	0.2853:0.0:0.7147:0.0	.	.	.	.	X	226	.	ENSP00000295628:Y226X	Y	-	3	2	LRRC58	121536628	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	3.106000	0.50322	0.585000	0.29608	0.533000	0.62120	TAT		0.363	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		7	37	0	0	0	0	7	37				
GTF2E1	2960	broad.mit.edu	37	3	120495328	120495328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120495328G>T	ENST00000283875.5	+	4	802	c.709G>T	c.(709-711)Gaa>Taa	p.E237*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	237					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCACCACCGGGAAGCATGGGC	0.458																																						uc003edz.3		NA																	0				ovary(1)	1						c.(709-711)GAA>TAA		general transcription factor IIE, polypeptide 1,							96.0	97.0	97.0					3																	120495328		2203	4300	6503	SO:0001587	stop_gained	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120495328G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.709G>T	3.37:g.120495328G>T	ENSP00000283875:p.Glu237*						p.E237*	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	4	823	+			237					Q16103	Nonsense_Mutation	SNP	ENST00000283875.5	37	c.709G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570665	0.86542	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-29.3333	17.4213	0.87516	0.0:0.0:1.0:0.0	.	.	.	.	X	70;237	.	ENSP00000283875:E237X	E	+	1	0	GTF2E1	121978018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.353000	0.79882	0.484000	0.47621	GAA		0.458	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		25	66	1	0	2.01e-23	2.32e-23	25	66				
DNAJB8	165721	broad.mit.edu	37	3	128181534	128181534	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:128181534G>A	ENST00000469083.1	-	2	3112	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.S185S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	185	Ser-rich.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCATCTCGGTGGACGACATCA	0.627																																						uc003ekk.1		NA																	0					0						c.(553-555)TCC>TCT		DnaJ homolog, subfamily B, member 8							117.0	102.0	107.0					3																	128181534		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181534G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.555C>T	3.37:g.128181534G>A						uc003ekl.1_5'Flank	p.S185S	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	3	2216	-			185					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.555C>T	CCDS3048.1																																																																																				0.627	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		15	39	0	0	0	0	15	39				
BFSP2	8419	broad.mit.edu	37	3	133119364	133119364	+	Missense_Mutation	SNP	G	G	T	rs148759360	byFrequency	TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:133119364G>T	ENST00000302334.2	+	1	526	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	146	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAAGCCACACGCTCGGGAAAC	0.617																																						uc003epn.1		NA																	0					0						c.(436-438)CGC>CTC		phakinin		G	LEU/ARG	0,4406		0,0,2203	25.0	32.0	29.0		437	2.9	0.0	3	dbSNP_134	29	2,8598	2.2+/-6.3	0,2,4298	yes	missense	BFSP2	NM_003571.2	102	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	146/416	133119364	2,13004	2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119364G>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.437G>T	3.37:g.133119364G>T	ENSP00000304987:p.Arg146Leu						p.R146L	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			1	575	+			146			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.437G>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280844	0.40394	0.0	2.33E-4	ENSG00000170819	ENST00000302334	D	0.88277	-2.36	5.84	2.86	0.33363	Filament (1);	0.506167	0.19169	N	0.120983	D	0.82870	0.5131	L	0.34521	1.04	0.09310	N	1	P	0.34757	0.467	B	0.39217	0.294	T	0.70357	-0.4894	10	0.24483	T	0.36	-6.3537	10.2786	0.43526	0.0695:0.3824:0.5481:0.0	.	146	Q13515	BFSP2_HUMAN	L	146	ENSP00000304987:R146L	ENSP00000304987:R146L	R	+	2	0	BFSP2	134602054	0.862000	0.29867	0.012000	0.15200	0.834000	0.47266	1.580000	0.36547	0.781000	0.33589	0.563000	0.77884	CGC		0.617	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			6	18	1	0	5.94e-07	6.61e-07	6	18				
ARHGEF26	26084	broad.mit.edu	37	3	153905593	153905593	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:153905593A>T	ENST00000356448.4	+	7	1891	c.1607A>T	c.(1606-1608)gAa>gTa	p.E536V	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E536V|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	536	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGCACAAATGAAGTCTACCAA	0.343																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NA																	0				large_intestine(1)	1						c.(1606-1608)GAA>GTA		Src homology 3 domain-containing guanine							85.0	78.0	80.0					3																	153905593		1890	4109	5999	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153905593A>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1607A>T	3.37:g.153905593A>T	ENSP00000348828:p.Glu536Val					SGEF_uc011boh.1_Missense_Mutation_p.E536V	p.E536V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		7	1818	+			536			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1607A>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724230	0.89298	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.28255	1.62;1.62	5.91	5.91	0.95273	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.978;0.999	T	0.58278	-0.7664	10	0.87932	D	0	-27.2448	16.3483	0.83171	1.0:0.0:0.0:0.0	.	536;536	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	536	ENSP00000348828:E536V;ENSP00000423418:E536V	ENSP00000348828:E536V	E	+	2	0	ARHGEF26	155388283	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.774000	0.91767	2.254000	0.74563	0.533000	0.62120	GAA		0.343	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		4	18	0	0	0	0	4	18				
RGS12	6002	broad.mit.edu	37	4	3424168	3424168	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:3424168C>T	ENST00000344733.5	+	11	3808	c.2904C>T	c.(2902-2904)ctC>ctT	p.L968L	RGS12_ENST00000382788.3_Silent_p.L968L|RGS12_ENST00000338806.4_Silent_p.L320L|RGS12_ENST00000538395.1_Silent_p.L310L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.L968L|RGS12_ENST00000306648.7_Silent_p.L366L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	968	RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCATTCATCTCCCGGATGGGA	0.627																																						uc003ggw.2		NA																	0				skin(1)	1						c.(2902-2904)CTC>CTT		regulator of G-protein signalling 12 isoform 1							72.0	63.0	66.0					4																	3424168		2202	4300	6502	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424168C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2904C>T	4.37:g.3424168C>T						RGS12_uc003ggv.2_Silent_p.L968L|RGS12_uc003ggy.1_Silent_p.L366L|RGS12_uc003ggz.2_Silent_p.L320L|RGS12_uc010icu.1_Silent_p.L167L|RGS12_uc011bvs.1_Silent_p.L310L|RGS12_uc003gha.2_Silent_p.L310L|RGS12_uc010icv.2_Silent_p.L167L|RGS12_uc003ghb.2_Silent_p.L167L	p.L968L	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	3808	+			968			RBD 1.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.2904C>T	CCDS3366.1																																																																																				0.627	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	17	0	0	0	0	10	17				
DRD5	1816	broad.mit.edu	37	4	9785061	9785061	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:9785061C>G	ENST00000304374.2	+	1	1804	c.1408C>G	c.(1408-1410)Cct>Gct	p.P470A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	470					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAAAATAACACCTTTCACCCC	0.483																																						uc003gmb.3		NA																	0				skin(1)	1						c.(1408-1410)CCT>GCT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						34.0	37.0	36.0					4																	9785061		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9785061C>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1408C>G	4.37:g.9785061C>G	ENSP00000306129:p.Pro470Ala						p.P470A	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1804	+			470			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1408C>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	13.65	2.301676	0.40694	.	.	ENSG00000169676	ENST00000304374	T	0.67345	-0.26	4.53	2.8	0.32819	.	0.067669	0.64402	D	0.000013	T	0.61527	0.2354	M	0.67700	2.07	0.48901	D	0.999722	P	0.48294	0.908	B	0.41860	0.368	T	0.60816	-0.7188	10	0.52906	T	0.07	.	8.2891	0.31948	0.1554:0.7628:0.0:0.0818	.	470	P21918	DRD5_HUMAN	A	470	ENSP00000306129:P470A	ENSP00000306129:P470A	P	+	1	0	DRD5	9394159	0.999000	0.42202	0.116000	0.21606	0.829000	0.46940	4.488000	0.60300	0.539000	0.28788	-0.384000	0.06662	CCT		0.483	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	37	0	0	0	0	7	37				
UGT2A1	10941	broad.mit.edu	37	4	70460413	70460413	+	Splice_Site	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:70460413T>C	ENST00000503640.1	-	5	1141	c.1086A>G	c.(1084-1086)ggA>ggG	p.G362G	UGT2A2_ENST00000457664.2_Splice_Site_p.G371G|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Splice_Site_p.G528G|UGT2A1_ENST00000286604.4_Splice_Site_p.G362G|UGT2A1_ENST00000512704.1_Splice_Site_p.G318G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	362					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTGGGATGTCCTAATTTGA	0.418																																						uc003hem.3		NA																	0				ovary(1)	1						c.(1084-1086)GGA>GGG		UDP glucuronosyltransferase 2 family,							36.0	32.0	34.0					4																	70460413		2203	4300	6503	SO:0001630	splice_region_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70460413T>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1085-1A>G	4.37:g.70460413T>C						UGT2A1_uc011caq.1_Silent_p.G528G|UGT2A1_uc010ihu.2_Silent_p.G362G|UGT2A1_uc010iht.2_Silent_p.G318G|UGT2A1_uc010ihs.2_Silent_p.G363G	p.G362G	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			5	1149	-			362			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.1086A>G	CCDS3529.1																																																																																				0.418	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	Silent	2	8	0	0	0	0	2	8				
CMBL	134147	broad.mit.edu	37	5	10280584	10280584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:10280584C>T	ENST00000296658.3	-	6	1139	c.719G>A	c.(718-720)tGg>tAg	p.W240*	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	240						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTGTTCAGCCACTCAATTAA	0.418																																						uc003jes.2		NA																	0				skin(1)	1						c.(718-720)TGG>TAG		carboxymethylenebutenolidase							121.0	109.0	113.0					5																	10280584		2203	4300	6503	SO:0001587	stop_gained	134147					cytosol	hydrolase activity|protein binding	g.chr5:10280584C>T		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.719G>A	5.37:g.10280584C>T	ENSP00000296658:p.Trp240*						p.W240*	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			6	1170	-			240					D3DTC7|Q8TED6	Nonsense_Mutation	SNP	ENST00000296658.3	37	c.719G>A	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821268	0.96989	.	.	ENSG00000164237	ENST00000296658	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7003	18.8564	0.92254	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000296658:W240X	W	-	2	0	CMBL	10333584	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	6.869000	0.75521	2.808000	0.96608	0.655000	0.94253	TGG		0.418	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		7	87	0	0	0	0	7	87				
TRIM36	55521	broad.mit.edu	37	5	114462268	114462268	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:114462268C>T	ENST00000282369.3	-	10	2240	c.2119G>A	c.(2119-2121)Ggc>Agc	p.G707S	TRIM36_ENST00000513154.1_Missense_Mutation_p.G695S|TRIM36_ENST00000514154.1_Missense_Mutation_p.G552S	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	707	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCTCCACTGCCCATTAATGCA	0.393																																						uc003kqs.2		NA																	0				ovary(4)|lung(2)|breast(2)	8						c.(2119-2121)GGC>AGC		tripartite motif-containing 36 isoform 1							106.0	97.0	100.0					5																	114462268		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114462268C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.2119G>A	5.37:g.114462268C>T	ENSP00000282369:p.Gly707Ser					TRIM36_uc011cwc.1_Missense_Mutation_p.G695S|TRIM36_uc003kqt.2_Missense_Mutation_p.G552S	p.G707S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	10	2628	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	707			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.2119G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492205	0.96339	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.59638	0.25;0.25;0.25	5.73	5.73	0.89815	B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.103788	0.64402	D	0.000004	T	0.71978	0.3404	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67201	-0.5730	10	0.37606	T	0.19	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	695;707	E9PFI8;Q9NQ86	.;TRI36_HUMAN	S	707;695;552	ENSP00000282369:G707S;ENSP00000423934:G695S;ENSP00000424259:G552S	ENSP00000282369:G707S	G	-	1	0	TRIM36	114490167	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.279000	0.78599	2.854000	0.98071	0.655000	0.94253	GGC		0.393	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		7	14	0	0	0	0	7	14				
TIMD4	91937	broad.mit.edu	37	5	156381757	156381757	+	Silent	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:156381757A>C	ENST00000274532.2	-	2	125	c.69T>G	c.(67-69)acT>acG	p.T23T	TIMD4_ENST00000407087.3_Silent_p.T23T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	23						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCTGAAGTGACTGGTG	0.473																																						uc003lwh.2		NA																	0				ovary(2)	2						c.(67-69)ACT>ACG		T-cell immunoglobulin and mucin domain							44.0	49.0	47.0					5																	156381757		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381757A>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.69T>G	5.37:g.156381757A>C						TIMD4_uc010jii.2_Silent_p.T23T	p.T23T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	126	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	23					B5MCL9	Silent	SNP	ENST00000274532.2	37	c.69T>G	CCDS4332.1																																																																																				0.473	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		4	8	0	0	0	0	4	8				
HIST1H2BN	8341	broad.mit.edu	37	6	27806706	27806706	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:27806706C>T	ENST00000396980.3	+	1	267	c.267C>T	c.(265-267)acC>acT	p.T89T	HIST1H2BN_ENST00000606613.1_Silent_p.T89T|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	89					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGCGCTCGACCATCACCTCCA	0.637																																						uc003njv.2		NA																	0					0						c.(265-267)ACC>ACT		histone cluster 1, H2bn							79.0	81.0	80.0					6																	27806706		2203	4297	6500	SO:0001819	synonymous_variant	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806706C>T	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.267C>T	6.37:g.27806706C>T						HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.T89T	p.T89T	NM_003520	NP_003511	Q99877	H2B1N_HUMAN			1	267	+			89					B2R5L4|Q494S8|Q96FB7	Silent	SNP	ENST00000396980.3	37	c.267C>T	CCDS4633.1																																																																																				0.637	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		20	94	0	0	0	0	20	94				
CLIC5	53405	broad.mit.edu	37	6	45882035	45882035	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:45882035C>T	ENST00000185206.6	-	5	1147	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000339561.6_Missense_Mutation_p.R173H|CLIC5_ENST00000544153.1_Missense_Mutation_p.R173H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	332	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAGGAACTTGCGCCGGGACCC	0.557																																						uc003oxv.3		NA																	0				ovary(1)|skin(1)	2						c.(994-996)CGC>CAC		chloride intracellular channel 5 isoform a							121.0	119.0	119.0					6																	45882035		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882035C>T	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.995G>A	6.37:g.45882035C>T	ENSP00000185206:p.Arg332His					CLIC5_uc003oxu.3_Missense_Mutation_p.R173H|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R173H	p.R332H	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			5	1101	-			332			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.995G>A	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661687	0.96734	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	D;D;D	0.94613	-3.47;-3.47;-3.47	5.84	5.84	0.93424	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.099058	0.64402	D	0.000002	D	0.97829	0.9287	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;P;D	0.70716	0.756;0.891;0.97	D	0.97781	1.0232	10	0.87932	D	0	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	173;332;173	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	H	332;173;173	ENSP00000185206:R332H;ENSP00000344165:R173H;ENSP00000439195:R173H	ENSP00000185206:R332H	R	-	2	0	CLIC5	45990013	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.557	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			13	48	0	0	0	0	13	48				
FBXL4	26235	broad.mit.edu	37	6	99353453	99353453	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:99353453G>A	ENST00000369244.2	-	6	1380	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	FBXL4_ENST00000229971.1_Silent_p.L318L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	318	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGTATTGCAGAGGATCACAG	0.433																																						uc003ppf.1		NA																	0				skin(2)	2						c.(952-954)CTG>TTG		F-box and leucine-rich repeat protein 4							172.0	150.0	158.0					6																	99353453		2203	4300	6503	SO:0001819	synonymous_variant	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99353453G>A	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.952C>T	6.37:g.99353453G>A						FBXL4_uc003ppg.1_Silent_p.L318L|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.2_5'UTR	p.L318L	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	5	1310	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	318			F-box.		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	c.952C>T	CCDS5041.1																																																																																				0.433	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			12	42	0	0	0	0	12	42				
EPB41L2	2037	broad.mit.edu	37	6	131222184	131222184	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:131222184T>C	ENST00000337057.3	-	7	1247	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	EPB41L2_ENST00000525193.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.I356V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	356	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAGGTCGATGCTGCCATGT	0.542																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1066-1068)ATC>GTC		erythrocyte membrane protein band 4.1-like 2							202.0	178.0	186.0					6																	131222184		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222184T>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1066A>G	6.37:g.131222184T>C	ENSP00000338481:p.Ile356Val					EPB41L2_uc003qcg.1_Missense_Mutation_p.I356V|EPB41L2_uc011eby.1_Missense_Mutation_p.I356V|EPB41L2_uc003qci.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfk.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfl.1_Missense_Mutation_p.I356V	p.I356V	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1248	-	Breast(56;0.0639)		356			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1066A>G	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558066	0.45590	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.48	-4.14	0.03892	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.773580	0.12235	N	0.487050	T	0.24470	0.0593	N	0.08118	0	0.21416	N	0.999695	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.31447	-0.9943	10	0.72032	D	0.01	.	8.4076	0.32625	0.0:0.5219:0.2977:0.1805	.	356;356;356;356;356	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	V	356	ENSP00000434308:I356V;ENSP00000434576:I356V;ENSP00000402041:I356V;ENSP00000338481:I356V;ENSP00000376222:I356V;ENSP00000357110:I356V;ENSP00000436348:I356V;ENSP00000432803:I356V;ENSP00000431988:I356V;ENSP00000431647:I356V;ENSP00000436641:I356V	ENSP00000338481:I356V	I	-	1	0	EPB41L2	131263877	0.692000	0.27719	0.001000	0.08648	0.983000	0.72400	1.303000	0.33470	-0.727000	0.04888	0.533000	0.62120	ATC		0.542	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			19	94	0	0	0	0	19	94				
PEX3	8504	broad.mit.edu	37	6	143793311	143793311	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:143793311A>G	ENST00000367591.4	+	8	656	c.593A>G	c.(592-594)cAt>cGt	p.H198R		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	198					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTTAAACATTCTTTGTCC	0.333																																						uc003qjl.2		NA																	0				ovary(1)	1						c.(592-594)CAT>CGT		peroxisomal biogenesis factor 3							66.0	72.0	70.0					6																	143793311		2202	4300	6502	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143793311A>G	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.593A>G	6.37:g.143793311A>G	ENSP00000356563:p.His198Arg					PEX3_uc011edx.1_Missense_Mutation_p.H198R	p.H198R	NM_003630	NP_003621	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	8	855	+			198			Cytoplasmic (Potential).		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.593A>G	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072665	0.20147	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.40756	1.02;1.02	5.93	4.75	0.60458	.	0.095464	0.64402	D	0.000001	T	0.12050	0.0293	N	0.17474	0.49	0.50467	D	0.999875	B;B	0.27013	0.016;0.166	B;B	0.25614	0.016;0.062	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.9709	12.399	0.55402	0.8737:0.0:0.0:0.1262	.	198;198	B4DV31;P56589	.;PEX3_HUMAN	R	154;154;198	ENSP00000356564:H154R;ENSP00000356563:H198R	ENSP00000344195:H154R	H	+	2	0	PEX3	143835004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.037000	0.88933	1.038000	0.40049	0.482000	0.46254	CAT		0.333	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			19	20	0	0	0	0	19	20				
RADIL	55698	broad.mit.edu	37	7	4874238	4874238	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:4874238C>T	ENST00000399583.3	-	4	1603	c.1416G>A	c.(1414-1416)tgG>tgA	p.W472*	RADIL_ENST00000538469.1_Splice_Site_p.W232*|RADIL_ENST00000536091.1_Splice_Site_p.W472*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	472					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCACACTGACCCAGACAGTCT	0.682																																						uc003snj.1		NA																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1414-1416)TGG>TGA		Rap GTPase interactor							14.0	18.0	17.0					7																	4874238		2025	4166	6191	SO:0001630	splice_region_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874238C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1416+1G>A	7.37:g.4874238C>T						RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Nonsense_Mutation_p.W232*|RADIL_uc011jwd.1_RNA	p.W472*	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1589	-		Ovarian(82;0.0175)	472					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	ENST00000399583.3	37	c.1416G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	-	37	6.465927	0.97590	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	.	.	.	4.0	4.0	0.46444	.	0.146323	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.09	13.6484	0.62297	0.0:1.0:0.0:0.0	.	.	.	.	X	472;443;206;472;232	.	.	W	-	3	0	RADIL	4840764	1.000000	0.71417	0.998000	0.56505	0.264000	0.26372	7.352000	0.79404	1.970000	0.57323	0.550000	0.68814	TGG		0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	Nonsense_Mutation	3	10	0	0	0	0	3	10				
DNAH11	8701	broad.mit.edu	37	7	21934574	21934574	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:21934574T>G	ENST00000409508.3	+	79	13037	c.13006T>G	c.(13006-13008)Tgg>Ggg	p.W4336G	DNAH11_ENST00000328843.6_Missense_Mutation_p.W4343G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4343					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCAGACACTTGGAGCAAACT	0.522									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13027-13029)TGG>GGG		dynein, axonemal, heavy chain 11							136.0	129.0	131.0					7																	21934574		1978	4167	6145	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21934574T>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.13006T>G	7.37:g.21934574T>G	ENSP00000475939:p.Trp4336Gly						p.W4343G	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			80	13058	+			4343					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.13027T>G		.	.	.	.	.	.	.	.	.	.	T	19.91	3.914634	0.72983	.	.	ENSG00000105877	ENST00000328843	T	0.46451	0.87	5.62	5.62	0.85841	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	9	0.87932	D	0	.	12.1031	0.53796	0.1284:0.0:0.0:0.8716	.	4343	Q96DT5	DYH11_HUMAN	G	4343	ENSP00000330671:W4343G	ENSP00000330671:W4343G	W	+	1	0	DNAH11	21901099	1.000000	0.71417	0.921000	0.36526	0.972000	0.66771	6.270000	0.72563	2.140000	0.66376	0.460000	0.39030	TGG		0.522	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	41	0	0	0	0	6	41				
GPNMB	10457	broad.mit.edu	37	7	23306162	23306162	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:23306162C>T	ENST00000381990.2	+	7	1242	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	GPNMB_ENST00000258733.4_Silent_p.L349L|GPNMB_ENST00000453162.2_Silent_p.L303L|GPNMB_ENST00000539136.1_Silent_p.L250L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	361					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCCCCTGGAGCTGAGTAGGAT	0.413																																						uc003swc.2		NA																	0				ovary(3)|breast(2)	5						c.(1081-1083)CTG>TTG		glycoprotein (transmembrane) nmb isoform a							90.0	82.0	85.0					7																	23306162		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306162C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1081C>T	7.37:g.23306162C>T						GPNMB_uc003swb.2_Silent_p.L349L|GPNMB_uc011jyy.1_Silent_p.L303L|GPNMB_uc011jyz.1_Silent_p.L250L	p.L361L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1242	+			361			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.1081C>T	CCDS34610.1																																																																																				0.413	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		9	43	0	0	0	0	9	43				
FKBP6	8468	broad.mit.edu	37	7	72754700	72754700	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:72754700G>A	ENST00000252037.4	+	6	718	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.A212T|FKBP6_ENST00000413573.2_Missense_Mutation_p.A187T	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	217					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTGGAGGCCGCCAAGCTTCC	0.567																																						uc003tya.2		NA																	0					0						c.(649-651)GCC>ACC		FK506 binding protein 6 isoform a							71.0	76.0	74.0					7																	72754700		1977	4153	6130	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754700G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.649G>A	7.37:g.72754700G>A	ENSP00000252037:p.Ala217Thr					FKBP6_uc003twz.2_Missense_Mutation_p.A187T|FKBP6_uc011kew.1_Missense_Mutation_p.A212T|FKBP6_uc010lbe.1_RNA	p.A217T	NM_003602	NP_003593	O75344	FKBP6_HUMAN			6	781	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	217					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.649G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	6.627	0.484159	0.12581	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.91	4.03	0.46877	Tetratricopeptide-like helical (1);	0.320408	0.32884	N	0.005531	T	0.53334	0.1790	L	0.29908	0.895	0.39676	D	0.97083	B;B;P	0.39094	0.428;0.106;0.659	B;B;B	0.28232	0.087;0.018;0.054	T	0.52823	-0.8524	10	0.33141	T	0.24	-9.8087	6.3226	0.21227	0.095:0.0:0.7099:0.1951	.	212;217;187	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	T	212;172;187;217	ENSP00000416277:A212T;ENSP00000402360:A172T;ENSP00000394952:A187T;ENSP00000252037:A217T	ENSP00000252037:A217T	A	+	1	0	FKBP6	72392636	0.989000	0.36119	0.989000	0.46669	0.110000	0.19582	2.202000	0.42743	1.077000	0.40990	0.563000	0.77884	GCC		0.567	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		13	42	0	0	0	0	13	42				
DCAF4L2	138009	broad.mit.edu	37	8	88885018	88885018	+	Silent	SNP	G	G	A	rs375340661		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr8:88885018G>A	ENST00000319675.3	-	1	1278	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	394										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAATTAACCGTAGGAGAAAC	0.502																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(1180-1182)TAC>TAT		WD repeat domain 21C		G		0,4406		0,0,2203	32.0	36.0	35.0		1182	-2.3	0.0	8		35	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCAF4L2	NM_152418.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		394/396	88885018	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885018G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1182C>T	8.37:g.88885018G>A							p.Y394Y	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1279	-			394						Silent	SNP	ENST00000319675.3	37	c.1182C>T	CCDS6245.1																																																																																				0.502	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		19	22	0	0	0	0	19	22				
LRRC19	64922	broad.mit.edu	37	9	26997861	26997861	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:26997861C>A	ENST00000380055.5	-	3	570	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C	LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	154						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATCAAATTGCCTTGCAGATTC	0.323																																						uc003zqh.2		NA																	0					0						c.(460-462)GGC>TGC		leucine rich repeat containing 19 precursor							142.0	144.0	143.0					9																	26997861		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26997861C>A	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.460G>T	9.37:g.26997861C>A	ENSP00000369395:p.Gly154Cys					IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	p.G154C	NM_022901	NP_075052	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	3	571	-		all_neural(11;1.81e-09)	154			LRR 5.|Extracellular (Potential).		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.460G>T	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356288	0.41700	.	.	ENSG00000184434	ENST00000380055	T	0.61040	0.14	5.62	2.78	0.32641	.	0.509312	0.19950	N	0.102444	T	0.69061	0.3069	M	0.78049	2.395	0.30664	N	0.754105	D	0.76494	0.999	D	0.65443	0.935	T	0.67150	-0.5743	10	0.62326	D	0.03	-0.5023	4.5974	0.12336	0.1409:0.4524:0.0:0.4067	.	154	Q9H756	LRC19_HUMAN	C	154	ENSP00000369395:G154C	ENSP00000369395:G154C	G	-	1	0	LRRC19	26987861	0.015000	0.18098	0.993000	0.49108	0.626000	0.37791	-0.109000	0.10840	0.414000	0.25790	0.585000	0.79938	GGC		0.323	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		16	36	1	0	4.15e-12	4.75e-12	16	36				
TRPM3	80036	broad.mit.edu	37	9	73152300	73152300	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:73152300C>T	ENST00000377111.2	-	25	3936	c.3693G>A	c.(3691-3693)cgG>cgA	p.R1231R	TRPM3_ENST00000396285.1_Silent_p.R1090R|TRPM3_ENST00000423814.3_Silent_p.R1258R|TRPM3_ENST00000358082.3_Silent_p.R1093R|TRPM3_ENST00000396292.4_Silent_p.R1103R|TRPM3_ENST00000377105.1_Silent_p.R1090R|TRPM3_ENST00000408909.2_Silent_p.R1090R|TRPM3_ENST00000396280.5_Silent_p.R1080R|TRPM3_ENST00000357533.2_Silent_p.R1235R|TRPM3_ENST00000377106.1_Silent_p.R1103R|TRPM3_ENST00000377110.3_Silent_p.R1231R|TRPM3_ENST00000360823.2_Silent_p.R1093R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1256					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCCTCCAGCCGCATAGACA	0.572																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3691-3693)CGG>CGA		transient receptor potential cation channel,							35.0	29.0	31.0					9																	73152300		2203	4299	6502	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73152300C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3693G>A	9.37:g.73152300C>T						TRPM3_uc004ahu.2_Silent_p.R1073R|TRPM3_uc004ahv.2_Silent_p.R1033R|TRPM3_uc004ahw.2_Silent_p.R1103R|TRPM3_uc004ahx.2_Silent_p.R1090R|TRPM3_uc004ahy.2_Silent_p.R1093R|TRPM3_uc004ahz.2_Silent_p.R1080R|TRPM3_uc004aia.2_Silent_p.R1078R|TRPM3_uc004aib.2_Silent_p.R1068R|TRPM3_uc004aic.2_Silent_p.R1231R	p.R1231R	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	3937	-			1256			Cytoplasmic (Potential).|Potential.		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.3693G>A		.	.	.	.	.	.	.	.	.	.	C	10.86	1.471046	0.26423	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46498	-0.9187	4	.	.	.	-22.1113	1.1799	0.01843	0.1353:0.3938:0.1959:0.275	.	.	.	.	T	1080	.	.	A	-	1	0	TRPM3	72342120	0.387000	0.25188	1.000000	0.80357	0.997000	0.91878	-0.247000	0.08866	1.627000	0.50400	0.655000	0.94253	GCT		0.572	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		4	32	0	0	0	0	4	32				
PALM2	114299	broad.mit.edu	37	9	112705030	112705030	+	Silent	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:112705030T>C	ENST00000374531.2	+	7	539	c.465T>C	c.(463-465)tcT>tcC	p.S155S	PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000448454.2_Silent_p.S189S|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Silent_p.S153S|PALM2_ENST00000314527.4_Silent_p.S187S	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	155					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGATTCTCTCTACATCTACCA	0.453																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(559-561)TCT>TCC		A kinase (PRKA) anchor protein 2 isoform 2							68.0	64.0	65.0					9																	112705030		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112705030T>C	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.465T>C	9.37:g.112705030T>C						PALM2_uc004bef.2_Silent_p.S189S|PALM2_uc004beg.2_Silent_p.S155S|PALM2_uc004beh.3_Silent_p.S187S|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.S187S	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			7	753	+			Error:Variant_position_missing_in_Q9Y2D5_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.561T>C	CCDS35099.1																																																																																				0.453	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		6	21	0	0	0	0	6	21				
ASTN2	23245	broad.mit.edu	37	9	119976807	119976807	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:119976807A>T	ENST00000313400.4	-	3	945	c.845T>A	c.(844-846)gTg>gAg	p.V282E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.V282E|ASTN2_ENST00000361209.2_Missense_Mutation_p.V282E			O75129	ASTN2_HUMAN	astrotactin 2	282					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGATGGGCACGCCAATGAC	0.602																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(844-846)GTG>GAG		astrotactin 2 isoform c							91.0	82.0	85.0					9																	119976807		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976807A>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.845T>A	9.37:g.119976807A>T	ENSP00000314038:p.Val282Glu					ASTN2_uc004bjr.1_Missense_Mutation_p.V282E|ASTN2_uc004bjt.1_Missense_Mutation_p.V282E	p.V282E	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	946	-			282			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.845T>A		.	.	.	.	.	.	.	.	.	.	A	17.95	3.514558	0.64522	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13538	2.68;2.68;2.58;2.66	5.34	5.34	0.76211	.	0.073530	0.49916	D	0.000130	T	0.07324	0.0185	N	0.08118	0	0.48087	D	0.999588	B;B;P	0.43885	0.125;0.31;0.82	B;B;B	0.37267	0.059;0.085;0.245	T	0.44605	-0.9317	9	.	.	.	-18.7347	14.9976	0.71446	1.0:0.0:0.0:0.0	.	282;282;282	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	E	282;282;9;282	ENSP00000314038:V282E;ENSP00000363108:V282E;ENSP00000363098:V9E;ENSP00000354504:V282E	.	V	-	2	0	ASTN2	119016628	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	8.918000	0.92759	2.016000	0.59253	0.533000	0.62120	GTG		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	36	0	0	0	0	7	36				
DOLPP1	57171	broad.mit.edu	37	9	131843487	131843487	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:131843487G>C	ENST00000372546.4	+	1	108		c.e1+1		DOLPP1_ENST00000540102.1_Splice_Site|DOLPP1_ENST00000406974.3_Splice_Site	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TATCCTGCAGGTAAAAGGCGG	0.706																																						uc004bxc.2		NA																	0				skin(1)	1						c.e1+1		dolichyl pyrophosphate phosphatase 1 isoform a							50.0	52.0	51.0					9																	131843487		2203	4300	6503	SO:0001630	splice_region_variant	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131843487G>C	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.76+1G>C	9.37:g.131843487G>C						DOLPP1_uc004bxd.2_Splice_Site_p.G26_splice|DOLPP1_uc004bxe.2_Splice_Site	p.G26_splice	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN			1	104	+								A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Splice_Site	SNP	ENST00000372546.4	37	c.76_splice	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613580	0.87359	.	.	ENSG00000167130	ENST00000372546;ENST00000406974	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2957	0.90145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOLPP1	130883308	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.764000	0.91719	2.659000	0.90383	0.561000	0.74099	.		0.706	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438	Intron	8	44	0	0	0	0	8	44				
FAM46D	169966	broad.mit.edu	37	X	79698533	79698533	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chrX:79698533C>T	ENST00000308293.5	+	3	734	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM46D_ENST00000538312.1_Silent_p.L165L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	165										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGAGTTCACTCAGACGGCAGT	0.368																																						uc004edl.1		NA																	0				lung(2)	2						c.(493-495)CTC>CTT		hypothetical protein LOC169966							80.0	78.0	79.0					X																	79698533		2203	4299	6502	SO:0001819	synonymous_variant	169966							g.chrX:79698533C>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.495C>T	X.37:g.79698533C>T						FAM46D_uc004edm.1_Silent_p.L165L	p.L165L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	829	+			165					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.495C>T	CCDS14446.1																																																																																				0.368	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		15	29	0	0	0	0	15	29				
TMEM206	55248	broad.mit.edu	37	1	212583778	212583778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:212583778delC	ENST00000261455.4	-	2	259	c.122delG	c.(121-123)ggtfs	p.G41fs	TMEM206_ENST00000535273.1_Frame_Shift_Del_p.G102fs|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	41						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGTAAGATACCCGGACCTTG	0.582																																						uc001hjc.3		NA																	0				breast(1)	1						c.(121-123)GGTfs		transmembrane protein 206							341.0	292.0	308.0					1																	212583778		2203	4300	6503	SO:0001589	frameshift_variant	55248					integral to membrane		g.chr1:212583778delC	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.122delG	1.37:g.212583778delC	ENSP00000261455:p.Gly41fs					TMEM206_uc010pte.1_Frame_Shift_Del_p.G102fs	p.G41fs	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	2	290	-			41			Cytoplasmic (Potential).		B7Z4D6|Q6IA87|Q9NV85	Frame_Shift_Del	DEL	ENST00000261455.4	37	c.122delG	CCDS1504.1																																																																																				0.582	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		34	218	NA	NA	NA	NA	34	218	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1567-1572)GAAGGGfs		zinc finger E-box binding homeobox 1 isoform b																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs					ZEB1_uc001ivr.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qee.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qef.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc009xlj.1_Frame_Shift_Ins_p.E449fs|ZEB1_uc010qeg.1_Frame_Shift_Ins_p.E382fs|ZEB1_uc009xlk.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivt.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivu.3_Frame_Shift_Ins_p.E524fs|ZEB1_uc001ivv.3_Frame_Shift_Ins_p.E503fs|ZEB1_uc010qeh.1_Frame_Shift_Ins_p.E456fs|ZEB1_uc009xlo.1_Frame_Shift_Ins_p.E506fs|ZEB1_uc009xlp.2_Frame_Shift_Ins_p.E507fs	p.E523fs	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1632_1633	+		Prostate(175;0.0156)	523_524					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1569_1570insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	40	NA	NA	NA	NA	12	40	---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178326624	178326624	+	Frame_Shift_Del	DEL	A	A	-	rs377646994		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:178326624delA	ENST00000264167.4	+	9	1020	c.874delA	c.(874-876)aaafs	p.K292fs	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	292	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGCTTAAAGAAAGTGG	0.383																																						uc002ull.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(874-876)AAAfs		alkyldihydroxyacetone phosphate synthase							81.0	80.0	80.0					2																	178326624		2203	4300	6503	SO:0001589	frameshift_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178326624delA	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.874delA	2.37:g.178326624delA	ENSP00000264167:p.Lys292fs					AGPS_uc010zfb.1_Frame_Shift_Del_p.K202fs	p.K292fs	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		9	921	+			292			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Frame_Shift_Del	DEL	ENST00000264167.4	37	c.874delA	CCDS2275.1																																																																																				0.383	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			30	32	NA	NA	NA	NA	30	32	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187531028	187531029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:187531028_187531029insT	ENST00000441802.2	-	15	10203_10204	c.9994_9995insA	c.(9994-9996)accfs	p.T3332fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3332	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAACACAGGGGTATTATCGTTG	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9994-9996)ACCfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531028_187531029insT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9995dupA	4.37:g.187531029_187531029dupT	ENSP00000406229:p.Thr3332fs	HNSCC(5;0.00058)					p.T3332fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			15	10182_10183	-			3332			Extracellular (Potential).|Cadherin 30.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.9994_9995insA	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	17	NA	NA	NA	NA	9	17	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262631	45262631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:45262631delG	ENST00000303230.4	-	8	2122	c.2065delC	c.(2065-2067)cagfs	p.Q689fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	689					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGATGGCTGGGGGGTCTGT	0.637																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2065-2067)CAGfs		hyperpolarization activated cyclic							82.0	82.0	82.0					5																	45262631		2203	4300	6503	SO:0001589	frameshift_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262631delG	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2065delC	5.37:g.45262631delG	ENSP00000307342:p.Gln689fs						p.Q689fs	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2090	-			689			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000303230.4	37	c.2065delC	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	59	NA	NA	NA	NA	7	59	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152129337	152129338	+	Frame_Shift_Ins	INS	-	-	C	rs533291788	byFrequency	TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:152129337_152129338insC	ENST00000206249.3	+	1	652_653	c.290_291insC	c.(289-294)ttccccfs	p.FP97fs	ESR1_ENST00000443427.1_Frame_Shift_Ins_p.FP97fs|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000338799.5_Frame_Shift_Ins_p.FP97fs|ESR1_ENST00000440973.1_Frame_Shift_Ins_p.FP97fs|ESR1_ENST00000456483.2_Frame_Shift_Ins_p.FP97fs|ESR1_ENST00000406599.1_Frame_Shift_Ins_p.FP97fs	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	97	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTGGGGGGTTTCCCCCCACTCA	0.723																																						uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(289-291)TTCfs		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)																																			SO:0001589	frameshift_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152129337_152129338insC	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.296dupC	6.37:g.152129343_152129343dupC	ENSP00000206249:p.Phe97fs					ESR1_uc010kin.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kio.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kip.2_Frame_Shift_Ins_p.F97fs|ESR1_uc003qon.3_Frame_Shift_Ins_p.F97fs|ESR1_uc003qoo.3_Frame_Shift_Ins_p.F97fs|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Frame_Shift_Ins_p.F97fs	p.F97fs	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	3	660_661	+		Ovarian(120;0.0448)	97			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Frame_Shift_Ins	INS	ENST00000206249.3	37	c.290_291insC	CCDS5234.1																																																																																				0.723	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135271848	135271850	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:135271848_135271850delTCT	ENST00000334270.2	-	5	1865_1867	c.1826_1828delAGA	c.(1825-1830)aagatg>atg	p.K609del		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	609					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACATCGAACATCTTCTTTGCTCG	0.389																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1825-1830)AAGATG>ATG		transcription termination factor, RNA polymerase																																				SO:0001651	inframe_deletion	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135271848_135271850delTCT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1826_1828delAGA	9.37:g.135271851_135271853delTCT	ENSP00000333920:p.Lys609del					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_In_Frame_Del_p.K94del	p.K609del	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	5	1878_1880	-		Myeloproliferative disorder(178;0.204)	609					A1L160|Q4VXF3|Q58EY2|Q6P5T5	In_Frame_Del	DEL	ENST00000334270.2	37	c.1826_1828delAGA	CCDS6948.1																																																																																				0.389	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		10	43	NA	NA	NA	NA	10	43	---	---	---	---
