#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ECT2L	345930	broad.mit.edu	37	6	139167808	139167808	+	Silent	SNP	G	G	A	rs373957226		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:139167808G>A	ENST00000423192.1	+	7	1058	c.897G>A	c.(895-897)gcG>gcA	p.A299A	ECT2L_ENST00000541398.1_Silent_p.A230A|ECT2L_ENST00000367682.2_Silent_p.A299A			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	299							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGATTCCTGCGTATGAGGTAG	0.383			"""N, Splice, Mis"""		ETP ALL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		20226	0.0		0.0	False		,,,				2504	0.0					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(895-897)gcG>gcA		epithelial cell transforming sequence 2 oncogene-like		G	,	5,3885		0,5,1940	225.0	216.0	219.0		897,897	-9.0	0.9	6		219	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous	ECT2L	NM_001077706.2,NM_001195037.2	,	0,5,6080	AA,AG,GG		0.0,0.1285,0.0411	,	299/905,299/905	139167808	5,12165	1945	4140	6085	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139167808G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.897G>A	6.37:g.139167808G>A						ECT2L_ENST00000367682.2_Silent_p.A299A|ECT2L_ENST00000541398.1_Silent_p.A230A	p.A299A			Q008S8	ECT2L_HUMAN			7	1058	+			299					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.897G>A	CCDS43508.1																																																																																				0.383	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		104	145	0	0	0	0.870114	0	104	145				
TNFRSF6B	8771	broad.mit.edu	37	20	62328365	62328365	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:62328365G>A	ENST00000369996.1	+	1	345	c.245G>A	c.(244-246)tGg>tAg	p.W82*	RTEL1_ENST00000318100.4_Silent_p.L1384L|ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1384L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	82					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACGCAGTTCTGGAACTACCTA	0.697																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(244-246)tGg>tAg		tumor necrosis factor receptor superfamily, member 6b, decoy							22.0	24.0	23.0					20																	62328365		2189	4282	6471	SO:0001587	stop_gained	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328365G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.245G>A	20.37:g.62328365G>A	ENSP00000359013:p.Trp82*					RTEL1_ENST00000318100.4_Silent_p.L1384L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1384L	p.W82*	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		1	345	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		82						Nonsense_Mutation	SNP	ENST00000369996.1	37	c.245G>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	58	32.942844	0.99980	.	.	ENSG00000243509	ENST00000370006;ENST00000369996;ENST00000342852	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.6432	15.8235	0.78678	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000342328:W82X	W	+	2	0	TNFRSF6B	61798809	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.169000	0.64984	1.713000	0.51359	0.462000	0.41574	TGG		0.697	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			5	14	0	0	0	0.217242	0	5	14				
ANK1	286	broad.mit.edu	37	8	41530033	41530033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:41530033C>G	ENST00000347528.4	-	38	5018	c.4935G>C	c.(4933-4935)agG>agC	p.R1645S	ANK1_ENST00000265709.8_Missense_Mutation_p.R1686S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1645S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1645S|ANK1_ENST00000396942.1_Missense_Mutation_p.R1645S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1645S|ANK1_ENST00000396945.1_Missense_Mutation_p.R1645S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1645	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTTCTGACCTCTGACCTT	0.537																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4933-4935)agG>agC		ankyrin 1, erythrocytic							236.0	216.0	223.0					8																	41530033		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530033C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4935G>C	8.37:g.41530033C>G	ENSP00000339620:p.Arg1645Ser					ANK1_ENST00000396945.1_Missense_Mutation_p.R1645S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1645S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1645S|ANK1_ENST00000265709.8_Missense_Mutation_p.R1686S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1645S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1645S	p.R1645S			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5018	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1645			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4935G>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.312123	0.60414	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.24	3.44	0.39384	.	0.067729	0.56097	D	0.000022	T	0.30634	0.0771	L	0.29908	0.895	0.41148	D	0.986008	B;B;B;B	0.24618	0.107;0.03;0.051;0.048	B;B;B;B	0.25506	0.061;0.018;0.023;0.01	T	0.05517	-1.0880	10	0.09338	T	0.73	.	9.311	0.37905	0.0:0.8341:0.0:0.1659	.	1686;1645;1645;1645	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	S	1645;1645;1645;1645;1645;1645;1686	ENSP00000339620:R1645S;ENSP00000289734:R1645S;ENSP00000369082:R1645S;ENSP00000380149:R1645S;ENSP00000380147:R1645S;ENSP00000309131:R1645S;ENSP00000265709:R1686S	ENSP00000265709:R1686S	R	-	3	2	ANK1	41649190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	0.726000	0.32339	0.552000	0.68991	AGG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		7	177	0	0	0	0.248553	0	7	177				
GCNT2	2651	broad.mit.edu	37	6	10529618	10529618	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:10529618G>A	ENST00000379597.3	+	1	1030	c.474G>A	c.(472-474)tcG>tcA	p.S158S	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.S158S			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	158					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S158S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGAAGGAGTCGGTTGTCTATG	0.532																																						ENST00000379597.3																			1	Substitution - coding silent(1)	p.S158S(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(472-474)tcG>tcA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							53.0	50.0	51.0					6																	10529618		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529618G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.474G>A	6.37:g.10529618G>A						GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.S158S	p.S158S			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1030	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	158						Silent	SNP	ENST00000379597.3	37	c.474G>A	CCDS34338.1																																																																																				0.532	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		15	21	0	0	0	0.457914	0	15	21				
MTMR2	8898	broad.mit.edu	37	11	95569371	95569371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:95569371G>A	ENST00000346299.5	-	14	2051	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	MTMR2_ENST00000352297.7_Missense_Mutation_p.R499C|MTMR2_ENST00000409459.1_Missense_Mutation_p.R499C|MTMR2_ENST00000393223.3_Missense_Mutation_p.R499C	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	571	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTAGGTGGCGCATGCTGGCT	0.453																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1495-1497)Cgc>Tgc		myotubularin related protein 2							160.0	158.0	159.0					11																	95569371		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95569371G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1711C>T	11.37:g.95569371G>A	ENSP00000345752:p.Arg571Cys					MTMR2_ENST00000346299.5_Missense_Mutation_p.R571C|MTMR2_ENST00000409459.1_Missense_Mutation_p.R499C|MTMR2_ENST00000352297.7_Missense_Mutation_p.R499C	p.R499C	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			16	2157	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	571			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1495C>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874941	0.51695	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.82	5.82	0.92795	Myotubularin phosphatase domain (1);	0.044772	0.85682	D	0.000000	D	0.92234	0.7537	M	0.87097	2.86	0.80722	D	1	B	0.21606	0.058	B	0.18561	0.022	D	0.88786	0.3274	10	0.37606	T	0.19	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	571	Q13614	MTMR2_HUMAN	C	571;499;499;499;499	ENSP00000345752:R571C;ENSP00000376915:R499C;ENSP00000386882:R499C;ENSP00000343737:R499C;ENSP00000396020:R499C	ENSP00000345752:R571C	R	-	1	0	MTMR2	95209019	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.422000	0.73357	2.752000	0.94435	0.655000	0.94253	CGC		0.453	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		5	291	0	0	0	0.184627	0	5	291				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	77	0	0	0	0.217242	0	5	77				
MAP1A	4130	broad.mit.edu	37	15	43821514	43821514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:43821514C>A	ENST00000300231.5	+	4	8293	c.7843C>A	c.(7843-7845)Cca>Aca	p.P2615T	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2615T|MAP1A_ENST00000382031.1_Missense_Mutation_p.P2853T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2615					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCCAAGCCAGCGTCCCC	0.662																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8557-8559)Cca>Aca		microtubule-associated protein 1A	Estramustine(DB01196)						48.0	59.0	56.0					15																	43821514		2003	4165	6168	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821514C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7843C>A	15.37:g.43821514C>A	ENSP00000300231:p.Pro2615Thr					MAP1A_ENST00000399453.1_Missense_Mutation_p.P2615T|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2615T	p.P2853T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8588	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2615					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8557C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739725	0.30865	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01560	4.77;4.83;4.78	5.14	5.14	0.70334	.	.	.	.	.	T	0.02304	0.0071	N	0.16903	0.455	0.37285	D	0.908008	D	0.56287	0.975	P	0.51516	0.672	T	0.64947	-0.6287	9	0.40728	T	0.16	-9.9982	8.9944	0.36043	0.0:0.8339:0.0:0.1661	.	2615	P78559	MAP1A_HUMAN	T	2853;2615;2615	ENSP00000371462:P2853T;ENSP00000382380:P2615T;ENSP00000300231:P2615T	ENSP00000300231:P2615T	P	+	1	0	MAP1A	41608806	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.600000	0.54052	2.660000	0.90430	0.462000	0.41574	CCA		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		25	22	1	0	2.79863e-10	0.681144	3.33683e-10	25	22				
XIRP2	129446	broad.mit.edu	37	2	168105632	168105632	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr2:168105632A>G	ENST00000409195.1	+	9	7819	c.7730A>G	c.(7729-7731)aAt>aGt	p.N2577S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N2577S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N2355S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2402					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGCCAAAATCAACACATA	0.343																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7729-7731)aAt>aGt		xin actin-binding repeat containing 2							96.0	91.0	92.0					2																	168105632		1830	4080	5910	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105632A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7730A>G	2.37:g.168105632A>G	ENSP00000386840:p.Asn2577Ser					XIRP2_ENST00000295237.9_Missense_Mutation_p.N2577S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N2355S	p.N2577S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7819	+			2402					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7730A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.715	1.158026	0.21454	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02345	4.33;4.33;4.33	5.92	-2.54	0.06307	.	1.123630	0.06483	N	0.733224	T	0.02494	0.0076	L	0.40543	1.245	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.49560	-0.8927	10	0.10111	T	0.7	-1.7215	6.356	0.21402	0.3288:0.3666:0.3045:0.0	.	2402;2402;2355	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2577;2577;2355	ENSP00000386840:N2577S;ENSP00000295237:N2577S;ENSP00000387255:N2355S	ENSP00000295237:N2577S	N	+	2	0	XIRP2	167813878	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.114000	0.15520	-0.350000	0.08262	-0.291000	0.09656	AAT		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		51	55	0	0	0	0.870114	0	51	55				
KRT14	3861	broad.mit.edu	37	17	39740135	39740135	+	Silent	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:39740135G>T	ENST00000167586.6	-	4	890	c.804C>A	c.(802-804)gtC>gtA	p.V268V		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	268	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCTCCACATTGACATCTCCAC	0.567																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(802-804)gtC>gtA		keratin 14							126.0	106.0	113.0					17																	39740135		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740135G>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.804C>A	17.37:g.39740135G>T							p.V268V	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	890	-		Breast(137;0.000307)	268			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.804C>A	CCDS11400.1																																																																																				0.567	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		31	44	1	0	1.75199e-13	0.717897	2.17246e-13	31	44				
MRPL27	51264	broad.mit.edu	37	17	48447949	48447949	+	Splice_Site	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:48447949T>A	ENST00000225969.4	-	2	84		c.e2-2		MRPL27_ENST00000507088.1_Splice_Site|EME1_ENST00000338165.4_5'Flank|MRPL27_ENST00000511860.1_Splice_Site|MRPL27_ENST00000503633.1_Splice_Site|EME1_ENST00000393271.2_5'Flank|MRPL27_ENST00000442592.3_Splice_Site	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGGATGTAACTGCAGAGAAAA	0.498																																						ENST00000442592.3																			0				endometrium(1)|large_intestine(2)|urinary_tract(1)	4						c.e2-2		mitochondrial ribosomal protein L27							139.0	132.0	134.0					17																	48447949		2203	4300	6503	SO:0001630	splice_region_variant	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48447949T>A	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.41-2A>T	17.37:g.48447949T>A						MRPL27_ENST00000225969.4_Splice_Site|MRPL27_ENST00000503633.1_Splice_Site|MRPL27_ENST00000507088.1_Splice_Site|MRPL27_ENST00000511860.1_Splice_Site				Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		2	77	-	Breast(11;5.62e-19)							B2RE14	Splice_Site	SNP	ENST00000225969.4	37		CCDS11564.1	.	.	.	.	.	.	.	.	.	.	T	4.606	0.112580	0.08831	.	.	ENSG00000108826	ENST00000225969;ENST00000503633;ENST00000442592	.	.	.	5.0	-0.782	0.10961	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5293	0.16974	0.1283:0.18:0.0:0.6916	.	.	.	.	.	-1	.	.	.	-	.	.	MRPL27	45802948	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.270000	0.18607	-0.184000	0.10567	0.528000	0.53228	.		0.498	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1		Intron	5	147	0	0	0	0.184627	0	5	147				
OR4Q3	441669	broad.mit.edu	37	14	20216155	20216155	+	Missense_Mutation	SNP	G	G	A	rs190796594	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:20216155G>A	ENST00000331723.1	+	1	569	c.569G>A	c.(568-570)tGc>tAc	p.C190Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTGGCCTGCATGGACACC	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		29958	0.0		0.0	False		,,,				2504	0.0					ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(568-570)tGc>tAc		olfactory receptor, family 4, subfamily Q, member 3							182.0	147.0	159.0					14																	20216155		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216155G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.569G>A	14.37:g.20216155G>A	ENSP00000330049:p.Cys190Tyr						p.C190Y	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	569	+	all_cancers(95;0.00108)		190					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.569G>A	CCDS32020.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	.	16.44	3.124710	0.56613	.	.	ENSG00000182652	ENST00000331723	T	0.00462	7.26	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	U	0.000498	T	0.01695	0.0054	H	0.96489	3.83	0.44462	D	0.997392	D	0.89917	1.0	D	0.97110	1.0	T	0.08722	-1.0708	10	0.87932	D	0	.	14.1126	0.65132	0.0:0.0:1.0:0.0	.	190	Q8NH05	OR4Q3_HUMAN	Y	190	ENSP00000330049:C190Y	ENSP00000330049:C190Y	C	+	2	0	OR4Q3	19285995	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	6.075000	0.71261	2.170000	0.68504	0.509000	0.49947	TGC		0.483	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			17	53	0	0	0	0.500413	0	17	53				
NOS1AP	9722	broad.mit.edu	37	1	162124256	162124256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:162124256G>A	ENST00000361897.5	+	2	569	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MIR4654_ENST00000577581.1_RNA|NOS1AP_ENST00000530878.1_Missense_Mutation_p.R56H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	56	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.R56H(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCTGCCATGCGCCGGATACGG	0.607																																						ENST00000361897.5																			2	Substitution - Missense(2)	p.R56H(2)	upper_aerodigestive_tract(2)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(166-168)cGc>cAc		nitric oxide synthase 1 (neuronal) adaptor protein							80.0	68.0	72.0					1																	162124256		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162124256G>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.167G>A	1.37:g.162124256G>A	ENSP00000355133:p.Arg56His					NOS1AP_ENST00000530878.1_Missense_Mutation_p.R56H	p.R56H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	569	+	all_hematologic(112;0.203)		56			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.167G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208757	0.79240	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.15256	2.44;2.44	5.36	5.36	0.76844	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.052971	0.64402	D	0.000001	T	0.33235	0.0856	M	0.75447	2.3	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.10917	-1.0609	9	0.56958	D	0.05	.	14.594	0.68392	0.0:0.0:1.0:0.0	.	56;56;56	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	H	56	ENSP00000431586:R56H;ENSP00000355133:R56H	ENSP00000355133:R56H	R	+	2	0	NOS1AP	160390880	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.789000	0.69029	2.497000	0.84241	0.462000	0.41574	CGC		0.607	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		10	15	0	0	0	0.411799	0	10	15				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	78	0	0	0	0.248553	0	6	78				
EGFL8	80864	broad.mit.edu	37	6	32134741	32134741	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:32134741G>T	ENST00000395512.1	+	5	494	c.389G>T	c.(388-390)tGc>tTc	p.C130F	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.C130F			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	130	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCTGACCAGTGCGAGTGCGCC	0.652																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(388-390)tGc>tTc		EGF-like-domain, multiple 8							76.0	77.0	76.0					6																	32134741		1511	2708	4219	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134741G>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.389G>T	6.37:g.32134741G>T	ENSP00000378888:p.Cys130Phe					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.C130F	p.C130F			Q99944	EGFL8_HUMAN			5	494	+			130			EGF-like 1.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.389G>T	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096484	0.76870	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;D	0.99992	-12.4;-12.4;-12.4	6.08	6.08	0.98989	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99992	1.4572	9	0.87932	D	0	-15.3912	16.1635	0.81734	0.0:0.0:1.0:0.0	.	130	Q99944	EGFL8_HUMAN	F	130	ENSP00000333380:C130F;ENSP00000378888:C130F;ENSP00000401694:C130F	ENSP00000333380:C130F	C	+	2	0	EGFL8	32242719	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	4.994000	0.63901	2.894000	0.99253	0.655000	0.94253	TGC		0.652	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		4	95	1	0	0.00024832	0.150653	0.000285108	4	95				
BEND2	139105	broad.mit.edu	37	X	18195875	18195875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:18195875G>A	ENST00000380033.4	-	10	1576	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	BEND2_ENST00000380030.3_Missense_Mutation_p.P391S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	482										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCTTTTTGGATCACCAAGA	0.378																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1444-1446)Cca>Tca		BEN domain containing 2							150.0	145.0	147.0					X																	18195875		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195875G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1444C>T	X.37:g.18195875G>A	ENSP00000369372:p.Pro482Ser					BEND2_ENST00000380030.3_Missense_Mutation_p.P391S	p.P482S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			10	1576	-			482					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1444C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040028	0.55003	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.57752	0.38;1.48	5.39	5.39	0.77823	.	0.085246	0.48767	D	0.000178	T	0.67878	0.2940	L	0.50333	1.59	0.39594	D	0.969625	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69250	-0.5194	10	0.46703	T	0.11	-13.2373	16.9545	0.86254	0.0:0.0:1.0:0.0	.	391;482	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	S	482;391	ENSP00000369372:P482S;ENSP00000369369:P391S	ENSP00000369369:P391S	P	-	1	0	BEND2	18105796	1.000000	0.71417	0.994000	0.49952	0.500000	0.33767	5.952000	0.70282	2.266000	0.75297	0.600000	0.82982	CCA		0.378	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		14	107	0	0	0	0.479597	0	14	107				
ZCCHC14	23174	broad.mit.edu	37	16	87445930	87445930	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr16:87445930T>G	ENST00000268616.4	-	12	2203	c.1986A>C	c.(1984-1986)caA>caC	p.Q662H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	662							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.Q662H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCACACTTATTTGCACATTAT	0.532																																						ENST00000268616.4																			1	Substitution - Missense(1)	p.Q662H(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1984-1986)caA>caC		zinc finger, CCHC domain containing 14							91.0	106.0	101.0					16																	87445930		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445930T>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1986A>C	16.37:g.87445930T>G	ENSP00000268616:p.Gln662His						p.Q662H	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2203	-			662					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1986A>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356829	0.24598	.	.	ENSG00000140948	ENST00000268616	T	0.19938	2.11	5.59	-1.8	0.07907	.	0.181752	0.39759	N	0.001266	T	0.28267	0.0698	L	0.29908	0.895	0.29700	N	0.840241	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.986	T	0.15954	-1.0419	10	0.66056	D	0.02	-20.9942	11.2352	0.48936	0.0:0.4105:0.0:0.5895	.	662;662	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	H	662	ENSP00000268616:Q662H	ENSP00000268616:Q662H	Q	-	3	2	ZCCHC14	86003431	0.992000	0.36948	0.930000	0.37139	0.005000	0.04900	0.057000	0.14279	-0.558000	0.06118	-1.098000	0.02139	CAA		0.532	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		127	84	0	0	0	0.870114	0	127	84				
PIGC	5279	broad.mit.edu	37	1	172411036	172411036	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:172411036G>A	ENST00000367728.1	-	1	2190	c.727C>T	c.(727-729)Cta>Tta	p.L243L	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Silent_p.L243L|PIGC_ENST00000258324.1_Silent_p.L243L|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	243					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATGGACAGTAGGCCTCCCACG	0.498																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(727-729)Cta>Tta		phosphatidylinositol glycan anchor biosynthesis, class C							80.0	77.0	78.0					1																	172411036		2203	4300	6503	SO:0001819	synonymous_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411036G>A	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.727C>T	1.37:g.172411036G>A						PIGC_ENST00000258324.1_Silent_p.L243L|PIGC_ENST00000344529.4_Silent_p.L243L|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron	p.L243L			Q92535	PIGC_HUMAN			1	2190	-			243					O14491	Silent	SNP	ENST00000367728.1	37	c.727C>T	CCDS1302.1																																																																																				0.498	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		44	30	0	0	0	0.840704	0	44	30				
RNF213	57674	broad.mit.edu	37	17	78326742	78326742	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:78326742C>A	ENST00000582970.1	+	33	10449	c.10306C>A	c.(10306-10308)Ctg>Atg	p.L3436M	RNF213_ENST00000336301.6_Missense_Mutation_p.L1509M|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L3485M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3436					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCACAGGGCTGTGGCAGTC	0.562																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10306-10308)Ctg>Atg		ring finger protein 213							136.0	131.0	133.0					17																	78326742		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78326742C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10306C>A	17.37:g.78326742C>A	ENSP00000464087:p.Leu3436Met					RNF213_ENST00000336301.6_Missense_Mutation_p.L1509M|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L3485M	p.L3436M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		33	10449	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10306C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803531	0.31869	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	5.57	4.58	0.56647	.	0.323947	0.26769	N	0.022586	T	0.44767	0.1309	M	0.77820	2.39	0.25599	N	0.986616	D	0.65815	0.995	P	0.62382	0.901	T	0.34825	-0.9813	10	0.39692	T	0.17	.	8.5018	0.33163	0.1539:0.7692:0.0:0.0769	.	1509	Q63HN8	RN213_HUMAN	M	3436;3485;1509	ENSP00000338218:L1509M	ENSP00000338218:L1509M	L	+	1	2	RNF213	75941337	0.997000	0.39634	1.000000	0.80357	0.514000	0.34195	3.498000	0.53302	1.308000	0.44962	0.655000	0.94253	CTG		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	139	1	0	0.000673444	0.361761	0.000745599	9	139				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	49	0	0	0	0.184627	0	3	49				
CAMSAP2	23271	broad.mit.edu	37	1	200827083	200827083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:200827083G>A	ENST00000236925.4	+	18	4415	c.4366G>A	c.(4366-4368)Gct>Act	p.A1456T	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A1429T|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A1445T			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1456	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCACATACCCGCTAAAACTTT	0.373																																						ENST00000358823.2																			0											c.(4333-4335)Gct>Act		calmodulin regulated spectrin-associated protein family, member 2							86.0	94.0	91.0					1																	200827083		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200827083G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4366G>A	1.37:g.200827083G>A	ENSP00000236925:p.Ala1456Thr					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A1429T|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A1456T	p.A1445T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			17	4603	+			1456			CKK.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.4333G>A		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738266	0.69304	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.17691	2.28;2.26;2.28	5.34	5.34	0.76211	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.37507	1.11	0.80722	D	1	P;D;D	0.89917	0.821;0.985;1.0	P;D;D	0.78314	0.684;0.935;0.991	T	0.01604	-1.1314	10	0.18710	T	0.47	-25.8111	19.4014	0.94630	0.0:0.0:1.0:0.0	.	1429;1456;1445	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	T	1445;1429;1456	ENSP00000351684:A1445T;ENSP00000416800:A1429T;ENSP00000236925:A1456T	ENSP00000236925:A1456T	A	+	1	0	CAMSAP1L1	199093706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.792000	0.99085	2.659000	0.90383	0.563000	0.77884	GCT		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		4	157	0	0	0	0.150653	0	4	157				
DOCK3	1795	broad.mit.edu	37	3	51198105	51198105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:51198105G>T	ENST00000266037.9	+	12	1032	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	337					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAAAGGAAGAAAAGGATTT	0.438																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1009-1011)Gaa>Taa		dedicator of cytokinesis 3							81.0	82.0	82.0					3																	51198105		1968	4140	6108	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51198105G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1009G>T	3.37:g.51198105G>T	ENSP00000266037:p.Glu337*						p.E337*	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	12	1032	+			337					O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.1009G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	37	6.171285	0.97343	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.8	5.8	0.92144	.	0.145914	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	X	337	.	ENSP00000266037:E337X	E	+	1	0	DOCK3	51173145	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.768000	0.98965	2.758000	0.94735	0.563000	0.77884	GAA		0.438	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		5	7	1	0	0.000602214	0.184627	0.00067886	5	7				
SHPRH	257218	broad.mit.edu	37	6	146276439	146276439	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:146276439C>T	ENST00000367505.2	-	2	284	c.20G>A	c.(19-21)cGt>cAt	p.R7H	SHPRH_ENST00000438092.2_Missense_Mutation_p.R7H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R7H|SHPRH_ENST00000367503.3_Missense_Mutation_p.R7H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	7					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGAGGAGCACGTTTCCGTCG	0.428																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(19-21)cGt>cAt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							121.0	117.0	118.0					6																	146276439		1940	4150	6090	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276439C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.20G>A	6.37:g.146276439C>T	ENSP00000356475:p.Arg7His					SHPRH_ENST00000438092.2_Missense_Mutation_p.R7H|SHPRH_ENST00000367505.2_Missense_Mutation_p.R7H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R7H	p.R7H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	418	-		Ovarian(120;0.0365)	7					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.20G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342525	0.81911	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.66	4.77	0.60923	.	0.071728	0.52532	D	0.000065	T	0.56337	0.1978	L	0.45581	1.43	0.49687	D	0.999815	B;D;D	0.63880	0.257;0.989;0.993	B;P;P	0.55713	0.037;0.61;0.782	T	0.63404	-0.6645	10	0.72032	D	0.01	-12.6553	10.8919	0.47000	0.1307:0.8005:0.0:0.0688	.	7;7;7	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	H	7	ENSP00000356475:R7H;ENSP00000356473:R7H;ENSP00000412797:R7H;ENSP00000275233:R7H	ENSP00000275233:R7H	R	-	2	0	SHPRH	146318132	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.083000	0.50136	1.353000	0.45828	0.655000	0.94253	CGT		0.428	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		42	55	0	0	0	0.864702	0	42	55				
ODF3	113746	broad.mit.edu	37	11	198284	198284	+	Silent	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:198284A>G	ENST00000325113.4	+	4	713	c.396A>G	c.(394-396)cgA>cgG	p.R132R	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.R132R	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	132					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCATTCCGAGTGGACAGCA	0.607																																						ENST00000325113.4																			0				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9						c.(394-396)cgA>cgG		outer dense fiber of sperm tails 3							73.0	63.0	66.0					11																	198284		2202	4300	6502	SO:0001819	synonymous_variant	113746				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		g.chr11:198284A>G	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.396A>G	11.37:g.198284A>G						BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.R132R	p.R132R	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	713	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	132					B7ZLT0|Q69YX0	Silent	SNP	ENST00000325113.4	37	c.396A>G	CCDS7688.1																																																																																				0.607	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1			7	19	0	0	0	0.307466	0	7	19				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	13	0	0	0	0.115264	0	3	13				
ZNF414	84330	broad.mit.edu	37	19	8576734	8576734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:8576734T>A	ENST00000255616.8	-	5	742	c.641A>T	c.(640-642)gAc>gTc	p.D214V	ZNF414_ENST00000393927.4_Missense_Mutation_p.D214V	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CGGCTCTCGGTCCAGGGCCGG	0.746																																						ENST00000393927.4																			0				lung(2)	2						c.(640-642)gAc>gTc		zinc finger protein 414							3.0	6.0	5.0					19																	8576734		1611	3397	5008	SO:0001583	missense	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8576734T>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.641A>T	19.37:g.8576734T>A	ENSP00000255616:p.Asp214Val					ZNF414_ENST00000255616.8_Missense_Mutation_p.D214V	p.D214V	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN			5	754	-			214					A8MY94	Missense_Mutation	SNP	ENST00000255616.8	37	c.641A>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045552	0.55110	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	T;T	0.09817	2.94;2.94	4.66	4.66	0.58398	.	0.405345	0.25222	N	0.032238	T	0.14614	0.0353	L	0.38175	1.15	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.49829	0.623;0.623	T	0.01081	-1.1458	10	0.87932	D	0	-10.1947	11.7586	0.51890	0.0:0.0:0.0:1.0	.	214;214	Q96IQ9;A8MY94	ZN414_HUMAN;.	V	214	ENSP00000377504:D214V;ENSP00000255616:D214V	ENSP00000255616:D214V	D	-	2	0	ZNF414	8482734	1.000000	0.71417	0.992000	0.48379	0.088000	0.18126	4.174000	0.58256	1.865000	0.54081	0.402000	0.26972	GAC		0.746	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		5	3	0	0	0	0.184627	0	5	3				
C17orf97	400566	broad.mit.edu	37	17	263553	263553	+	Missense_Mutation	SNP	C	C	A	rs529179118|rs71369085|rs71369084	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:263553C>A	ENST00000360127.6	+	2	935	c.919C>A	c.(919-921)Ccc>Acc	p.P307T	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	337	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGGCTTCCACCCCGACCCCAA	0.672													C|||	4	0.000798722	0.0008	0.0	5008	,	,		8874	0.0		0.001	False		,,,				2504	0.002					ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(919-921)Ccc>Acc		chromosome 17 open reading frame 97							19.0	22.0	21.0					17																	263553		2187	4294	6481	SO:0001583	missense	400566							g.chr17:263553C>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.919C>A	17.37:g.263553C>A	ENSP00000353245:p.Pro307Thr					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.P307T	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	935	+			337			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.919C>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	A	0	-2.650158	0.00109	.	.	ENSG00000187624	ENST00000360127	T	0.33216	1.42	2.04	-4.08	0.03963	.	.	.	.	.	T	0.11580	0.0282	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	9	0.27082	T	0.32	.	7.1538	0.25626	0.295:0.5897:0.0:0.1153	.	307	Q6ZQX7-4	.	T	307	ENSP00000353245:P307T	ENSP00000353245:P307T	P	+	1	0	C17orf97	263899	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.362000	0.00128	-6.001000	0.00007	-5.201000	0.00001	CCC		0.672	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	44	1	0	0.150653	0.150653	0.153123	4	44				
SGK2	10110	broad.mit.edu	37	20	42208658	42208658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:42208658A>G	ENST00000341458.4	+	11	1295	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G	SGK2_ENST00000423407.3_Missense_Mutation_p.D299G|SGK2_ENST00000373092.3_Missense_Mutation_p.D299G|SGK2_ENST00000373077.1_Missense_Mutation_p.D298G|SGK2_ENST00000426287.1_Missense_Mutation_p.D325G|SGK2_ENST00000373100.1_Missense_Mutation_p.D299G	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	359	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.D359G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACTGGGATGACCTGTACCAC	0.498																																						ENST00000373100.1																			1	Substitution - Missense(1)	p.D359G(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(895-897)gAc>gGc		serum/glucocorticoid regulated kinase 2							131.0	116.0	121.0					20																	42208658		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42208658A>G	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1076A>G	20.37:g.42208658A>G	ENSP00000340608:p.Asp359Gly					SGK2_ENST00000423407.3_Missense_Mutation_p.D299G|SGK2_ENST00000373092.3_Missense_Mutation_p.D299G|SGK2_ENST00000341458.4_Missense_Mutation_p.D359G|SGK2_ENST00000373077.1_Missense_Mutation_p.D298G|SGK2_ENST00000426287.1_Missense_Mutation_p.D325G	p.D299G			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1356	+		Myeloproliferative disorder(115;0.00452)	359			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.896A>G	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339029	0.81911	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	4.62	4.62	0.57501	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.64630	1.985	0.80722	D	1	P;P;D	0.76494	0.924;0.936;0.999	P;P;D	0.76071	0.836;0.901;0.987	T	0.71981	-0.4428	10	0.72032	D	0.01	.	13.3219	0.60438	1.0:0.0:0.0:0.0	.	325;359;299	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	G	299;299;298;299;359;325	ENSP00000362192:D299G;ENSP00000362184:D299G;ENSP00000362168:D298G;ENSP00000392795:D299G;ENSP00000340608:D359G;ENSP00000412214:D325G	ENSP00000340608:D359G	D	+	2	0	SGK2	41642072	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	9.068000	0.93961	1.838000	0.53458	0.460000	0.39030	GAC		0.498	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			19	28	0	0	0	0.608945	0	19	28				
CDC42EP4	23580	broad.mit.edu	37	17	71282113	71282113	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:71282113T>C	ENST00000335793.3	-	2	921	c.527A>G	c.(526-528)gAc>gGc	p.D176G	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D106G|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	176					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGAGGGGGTCAGGGGAATG	0.657																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(526-528)gAc>gGc		CDC42 effector protein (Rho GTPase binding) 4							54.0	47.0	49.0					17																	71282113		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282113T>C	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.527A>G	17.37:g.71282113T>C	ENSP00000338258:p.Asp176Gly					CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D106G	p.D176G			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	921	-			176					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.527A>G	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423577	0.25639	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.32023	1.47;1.47	4.67	4.67	0.58626	.	0.170334	0.49916	D	0.000131	T	0.43433	0.1247	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.56042	0.79;0.588	T	0.38693	-0.9649	10	0.46703	T	0.11	-26.8307	7.5325	0.27691	0.0:0.1399:0.0:0.8601	.	106;176	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	G	176;106	ENSP00000338258:D176G;ENSP00000404270:D106G	ENSP00000338258:D176G	D	-	2	0	CDC42EP4	68793708	1.000000	0.71417	0.990000	0.47175	0.038000	0.13279	3.517000	0.53443	1.748000	0.51833	0.397000	0.26171	GAC		0.657	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		25	28	0	0	0	0.667858	0	25	28				
CLDN18	51208	broad.mit.edu	37	3	137749947	137749947	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:137749947G>T	ENST00000183605.5	+	5	976	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CLDN18_ENST00000343735.4_Missense_Mutation_p.E250D	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	250					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.E250D(2)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAGAGGACGAGGTACAATCTT	0.517																																						ENST00000183605.5																			2	Substitution - Missense(2)	p.E250D(2)	upper_aerodigestive_tract(2)	endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(748-750)gaG>gaT		claudin 18							155.0	143.0	147.0					3																	137749947		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137749947G>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.750G>T	3.37:g.137749947G>T	ENSP00000183605:p.Glu250Asp					CLDN18_ENST00000343735.4_Missense_Mutation_p.E250D	p.E250D	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN			5	976	+			250					A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000183605.5	37	c.750G>T	CCDS3095.1	.	.	.	.	.	.	.	.	.	.	G	2.587	-0.296178	0.05532	.	.	ENSG00000066405	ENST00000343735;ENST00000183605;ENST00000536138	D;D	0.85258	-1.92;-1.96	5.61	0.482	0.16815	.	0.190967	0.41938	N	0.000796	T	0.64216	0.2578	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.48186	-0.9057	10	0.06891	T	0.86	.	5.4738	0.16684	0.2479:0.0:0.5379:0.2143	.	239;250;250	B4DNX6;P56856;P56856-2	.;CLD18_HUMAN;.	D	250;250;239	ENSP00000340939:E250D;ENSP00000183605:E250D	ENSP00000183605:E250D	E	+	3	2	CLDN18	139232637	0.584000	0.26766	0.061000	0.19648	0.025000	0.11179	0.583000	0.23849	0.031000	0.15407	-0.857000	0.03018	GAG		0.517	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026		46	66	1	0	3.7052e-28	0.864702	4.78589e-28	46	66				
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058348C>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							34.0	29.0	30.0					21																	11058348		692	1591	2283			85319							g.chr21:11058348C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058348C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	68	1	0	0.014758	0.184627	0.0152499	5	68				
ASPM	259266	broad.mit.edu	37	1	197112489	197112489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:197112489A>G	ENST00000367409.4	-	3	1149	c.893T>C	c.(892-894)cTt>cCt	p.L298P	ASPM_ENST00000294732.7_Missense_Mutation_p.L298P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	298					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTGGGGGTAAGACTAAGTTT	0.318																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(892-894)cTt>cCt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							79.0	79.0	79.0					1																	197112489		2202	4300	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112489A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.893T>C	1.37:g.197112489A>G	ENSP00000356379:p.Leu298Pro					ASPM_ENST00000294732.7_Missense_Mutation_p.L298P	p.L298P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1149	-			298					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.893T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	2.868	-0.234528	0.05983	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58358	0.34;1.6	5.49	3.12	0.35913	.	0.471608	0.19787	N	0.106069	T	0.45054	0.1323	M	0.72118	2.19	0.24090	N	0.995918	B;B	0.15473	0.006;0.013	B;B	0.12156	0.005;0.007	T	0.45425	-0.9262	10	0.42905	T	0.14	.	2.0317	0.03530	0.3948:0.3383:0.1469:0.12	.	298;298	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	298	ENSP00000356379:L298P;ENSP00000294732:L298P	ENSP00000294732:L298P	L	-	2	0	ASPM	195379112	0.013000	0.17824	0.016000	0.15963	0.099000	0.18886	0.572000	0.23684	0.442000	0.26555	0.519000	0.50382	CTT		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		38	63	0	0	0	0.819951	0	38	63				
IL3RA	3563	broad.mit.edu	37	X	1484134	1484134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:1484134C>T	ENST00000331035.4	+	9	1212	c.863C>T	c.(862-864)cCc>cTc	p.P288L	IL3RA_ENST00000381469.2_Missense_Mutation_p.P210L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	288					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGGAGCACCCCCCAGCGCTTC	0.652																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(862-864)cCc>cTc		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						48.0	58.0	55.0					X																	1484134		2195	4288	6483	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484134C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.863C>T	X.37:g.1484134C>T	ENSP00000327890:p.Pro288Leu					IL3RA_ENST00000381469.2_Missense_Mutation_p.P210L	p.P288L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			9	1212	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	288					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.863C>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.54	1.380119	0.24944	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.97209	-2.18;-4.29	0.355	0.355	0.16069	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.176010	0.06881	U	0.802429	D	0.96454	0.8843	L	0.38175	1.15	0.09310	N	1	D;D	0.69078	0.985;0.997	P;P	0.61328	0.882;0.887	D	0.90230	0.4278	9	0.59425	D	0.04	-0.0174	.	.	.	.	209;288	P26951-2;P26951	.;IL3RA_HUMAN	L	288;210	ENSP00000327890:P288L;ENSP00000370878:P210L	ENSP00000327890:P288L	P	+	2	0	IL3RA	1444134	0.000000	0.05858	0.347000	0.25668	0.408000	0.30992	-0.921000	0.04008	0.436000	0.26393	0.081000	0.15443	CCC		0.652	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			15	36	0	0	0	0.539581	0	15	36				
RFX4	5992	broad.mit.edu	37	12	107113755	107113755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:107113755C>A	ENST00000392842.1	+	12	1570	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.H395N|RFX4_ENST00000229387.5_Missense_Mutation_p.H292N|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	386	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H386N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGAGTTTGACCATCTCTTGGA	0.473																																						ENST00000392842.1																			1	Substitution - Missense(1)	p.H386N(1)	upper_aerodigestive_tract(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1156-1158)Cat>Aat		regulatory factor X, 4 (influences HLA class II expression)							218.0	192.0	201.0					12																	107113755		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107113755C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1156C>A	12.37:g.107113755C>A	ENSP00000376585:p.His386Asn					RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.H395N|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.H292N	p.H386N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			12	1570	+			386			Necessary for dimerization.		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1156C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873139	0.33069	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.41758	0.99;0.99;0.99	5.51	5.51	0.81932	.	0.045392	0.85682	D	0.000000	T	0.36193	0.0958	L	0.33485	1.01	0.46654	D	0.999148	B;B;B;B	0.29301	0.241;0.218;0.135;0.083	B;B;B;B	0.29942	0.107;0.109;0.082;0.025	T	0.08764	-1.0706	10	0.21540	T	0.41	-23.325	19.4315	0.94772	0.0:1.0:0.0:0.0	.	292;395;395;386	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	N	386;395;395;292	ENSP00000376585:H386N;ENSP00000350552:H395N;ENSP00000229387:H292N	ENSP00000229387:H292N	H	+	1	0	RFX4	105637885	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.550000	0.60733	2.600000	0.87896	0.655000	0.94253	CAT		0.473	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		16	39	1	0	8.28177e-16	0.557998	1.0479e-15	16	39				
PFKP	5214	broad.mit.edu	37	10	3178006	3178006	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:3178006A>G	ENST00000381125.4	+	21	2277	c.2201A>G	c.(2200-2202)gAg>gGg	p.E734G	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Missense_Mutation_p.E726G|PFKP_ENST00000381072.1_Missense_Mutation_p.E152G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	734	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.E734G(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGTGGCAGAGCTGAAGAAG	0.413																																						ENST00000381075.2																			1	Substitution - Missense(1)	p.E734G(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2176-2178)gAg>gGg		phosphofructokinase, platelet							77.0	76.0	77.0					10																	3178006		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178006A>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2201A>G	10.37:g.3178006A>G	ENSP00000370517:p.Glu734Gly					PFKP_ENST00000381072.1_Missense_Mutation_p.E152G|PFKP_ENST00000381125.4_Missense_Mutation_p.E734G	p.E726G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2401	+			734					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2177A>G	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.24|13.24	2.178992|2.178992	0.38511|0.38511	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	D;D;D|.	0.81739|.	-1.53;-1.53;-1.53|.	4.92|4.92	3.71|3.71	0.42584|0.42584	Phosphofructokinase domain (1);|.	0.235966|.	0.43110|.	D|.	0.000616|.	T|T	0.58061|0.58061	0.2096|0.2096	L|L	0.45744|0.45744	1.44|1.44	0.36508|0.36508	D|D	0.869409|0.869409	B;B;B|.	0.32467|.	0.372;0.372;0.215|.	B;B;B|.	0.33846|.	0.171;0.171;0.111|.	T|T	0.62978|0.62978	-0.6739|-0.6739	10|5	0.87932|.	D|.	0|.	.|.	11.3272|11.3272	0.49456|0.49456	0.8479:0.1521:0.0:0.0|0.8479:0.1521:0.0:0.0	.|.	726;726;734|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	G|G	734;723;726;152|87	ENSP00000370517:E734G;ENSP00000370465:E726G;ENSP00000370462:E152G|.	ENSP00000370462:E152G|.	E|S	+|+	2|1	0|0	PFKP|PFKP	3168006|3168006	0.997000|0.997000	0.39634|0.39634	0.823000|0.823000	0.32752|0.32752	0.708000|0.708000	0.40852|0.40852	4.681000|4.681000	0.61663|0.61663	1.847000|1.847000	0.53656|0.53656	0.379000|0.379000	0.24179|0.24179	GAG|AGC		0.413	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		26	6	0	0	0	0.729181	0	26	6				
TCEAL3	85012	broad.mit.edu	37	X	102864204	102864204	+	Missense_Mutation	SNP	G	G	A	rs374490781		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622																																						ENST00000372628.1																			1	Substitution - Missense(1)	p.R71K(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(211-213)aGg>aAg		transcription elongation factor A (SII)-like 3							145.0	115.0	125.0					X																	102864204		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864204G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.212G>A	X.37:g.102864204G>A	ENSP00000361711:p.Arg71Lys					TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron	p.R71K			Q969E4	TCAL3_HUMAN			3	570	+			71			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.212G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854668	0.02630	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15834	2.39;2.39;2.39	3.81	2.63	0.31362	.	0.639125	0.12947	N	0.426153	T	0.02380	0.0073	N	0.00094	-2.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	10	0.02654	T	1	.	5.1568	0.15038	0.8655:0.0:0.1345:0.0	.	71	Q969E4	TCAL3_HUMAN	K	71	ENSP00000361711:R71K;ENSP00000361710:R71K;ENSP00000243286:R71K	ENSP00000243286:R71K	R	+	2	0	TCEAL3	102750860	0.801000	0.28930	0.066000	0.19879	0.005000	0.04900	1.150000	0.31639	0.659000	0.30945	-0.383000	0.06682	AGG		0.622	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		3	67	0	0	0	0.150653	0	3	67				
MRPL17	63875	broad.mit.edu	37	11	6704488	6704488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:6704488C>T	ENST00000288937.6	-	1	144	c.40G>A	c.(40-42)Gta>Ata	p.V14I	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	14					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGGCGAAATACGCGGCCATGG	0.637											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288937.6																			0				lung(4)	4						c.(40-42)Gta>Ata		mitochondrial ribosomal protein L17							41.0	38.0	39.0					11																	6704488		2201	4296	6497	SO:0001583	missense	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704488C>T	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.40G>A	11.37:g.6704488C>T	ENSP00000288937:p.Val14Ile		OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636		p.V14I	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	144	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	14					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	37	c.40G>A	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559274	0.45590	.	.	ENSG00000158042	ENST00000288937;ENST00000532203	.	.	.	6.0	4.11	0.48088	.	0.064498	0.64402	D	0.000009	T	0.39009	0.1062	L	0.48642	1.525	0.44181	D	0.996991	P	0.40250	0.709	B	0.29524	0.103	T	0.36553	-0.9743	9	0.44086	T	0.13	-9.5319	10.6014	0.45369	0.0:0.7934:0.1327:0.0739	.	14	Q9NRX2	RM17_HUMAN	I	14	.	ENSP00000288937:V14I	V	-	1	0	MRPL17	6661064	0.998000	0.40836	0.953000	0.39169	0.062000	0.15995	2.053000	0.41326	1.549000	0.49425	0.555000	0.69702	GTA		0.637	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		3	33	0	0	0	0.115264	0	3	33				
TCF7L2	6934	broad.mit.edu	37	10	114919707	114919707	+	Silent	SNP	G	G	A	rs373202228		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:114919707G>A	ENST00000355995.4	+	14	1905	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369386.1_Silent_p.A92A|TCF7L2_ENST00000534894.1_Silent_p.A466A|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.A443A|TCF7L2_ENST00000369397.4_Silent_p.A443A|TCF7L2_ENST00000542695.1_Silent_p.A182A|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000536810.1_Silent_p.A449A|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000355717.4_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	466	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AATGCCGAGCGCGCTTTGGCC	0.512			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1396-1398)gcG>gcA		transcription factor 7-like 2 (T-cell specific, HMG-box)		G	,,,,,,,,,,,,	0,4406		0,0,2203	83.0	75.0	78.0		,,,1278,,1344,,1317,1329,,,,1329	4.4	1.0	10		78	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,intron,intron,coding-synonymous	TCF7L2	NM_001146274.1,NM_001146283.1,NM_001146284.1,NM_001146285.1,NM_001146286.1,NM_001198525.1,NM_001198526.1,NM_001198527.1,NM_001198528.1,NM_001198529.1,NM_001198530.1,NM_001198531.1,NM_030756.4	,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,	,,,426/580,,448/477,,439/456,443/460,,,,443/597	114919707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114919707G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1398G>A	10.37:g.114919707G>A						TCF7L2_ENST00000369386.1_Silent_p.A92A|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Silent_p.A182A|TCF7L2_ENST00000369397.4_Silent_p.A443A|TCF7L2_ENST00000536810.1_Silent_p.A449A|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.A443A|TCF7L2_ENST00000534894.1_Silent_p.A466A|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000355717.4_Intron	p.A466A			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	14	1905	+		Breast(234;0.058)|Colorectal(252;0.0615)	466			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1398G>A																																																																																					0.512	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		17	17	0	0	0	0.575678	0	17	17				
RPGRIP1	57096	broad.mit.edu	37	14	21762877	21762877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:21762877C>T	ENST00000400017.2	+	2	127	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R43W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R43W	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	43					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGGATGAACCGGGAGGAATT	0.408																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(127-129)Cgg>Tgg		retinitis pigmentosa GTPase regulator interacting protein 1							103.0	101.0	102.0					14																	21762877		1865	4104	5969	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21762877C>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.127C>T	14.37:g.21762877C>T	ENSP00000382895:p.Arg43Trp					RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R43W	p.R43W			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	2	127	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	43					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.127C>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078849	0.55753	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.52	2.56	0.30785	.	0.339977	0.25032	N	0.033666	D	0.85089	0.5617	L	0.61218	1.895	0.47737	D	0.999508	D	0.89917	1.0	P	0.60609	0.877	T	0.82581	-0.0386	10	0.87932	D	0	-4.1148	4.5343	0.12020	0.3046:0.5747:0.0:0.1207	.	43	Q96KN7	RPGR1_HUMAN	W	43	ENSP00000450445:R43W;ENSP00000451219:R43W;ENSP00000382895:R43W;ENSP00000206660:R43W	ENSP00000206660:R43W	R	+	1	2	RPGRIP1	20832717	1.000000	0.71417	0.186000	0.23195	0.755000	0.42902	1.100000	0.31025	0.473000	0.27368	-0.258000	0.10820	CGG		0.408	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		16	25	0	0	0	0.500413	0	16	25				
MYL6B	140465	broad.mit.edu	37	12	56547746	56547746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:56547746C>A	ENST00000553066.1	+	2	466	c.44C>A	c.(43-45)cCc>cAc	p.P15H	MYL6B_ENST00000550443.1_Missense_Mutation_p.P15H|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000207437.5_Missense_Mutation_p.P15H|MYL6B_ENST00000552568.1_Missense_Mutation_p.P15H|RP11-603J24.14_ENST00000548731.1_RNA			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	15					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCAGCAGGGCCCTCCATCTCC	0.587																																						ENST00000553066.1																			0				endometrium(2)|kidney(1)|large_intestine(4)	7						c.(43-45)cCc>cAc		myosin, light chain 6B, alkali, smooth muscle and non-muscle							39.0	41.0	40.0					12																	56547746		2203	4300	6503	SO:0001583	missense	140465				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle	g.chr12:56547746C>A	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.44C>A	12.37:g.56547746C>A	ENSP00000450385:p.Pro15His					MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.P15H|MYL6B_ENST00000552568.1_Missense_Mutation_p.P15H|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.P15H	p.P15H			P14649	MYL6B_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		2	466	+			15						Missense_Mutation	SNP	ENST00000553066.1	37	c.44C>A	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846113	0.32606	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000551834;ENST00000552568	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.0	3.96	0.45880	.	0.748798	0.12611	N	0.453896	T	0.79656	0.4483	N	0.08118	0	0.09310	N	1	D;P	0.59767	0.986;0.876	P;B	0.49708	0.62;0.417	T	0.70252	-0.4923	10	0.87932	D	0	.	8.8768	0.35350	0.0:0.8679:0.0:0.1321	.	15;15	B4E368;P14649	.;MYL6B_HUMAN	H	15	ENSP00000450385:P15H;ENSP00000446643:P15H;ENSP00000207437:P15H;ENSP00000446965:P15H	ENSP00000207437:P15H	P	+	2	0	MYL6B	54834013	0.007000	0.16637	0.022000	0.16811	0.985000	0.73830	1.239000	0.32719	1.225000	0.43566	0.561000	0.74099	CCC		0.587	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		3	37	1	0	0.004672	0.115264	0.00499421	3	37				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	65	0	0	0	0.115264	0	3	65				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	28	0	0	0	0.520397	0	15	28				
BRF1	2972	broad.mit.edu	37	14	105692446	105692446	+	Silent	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:105692446C>T	ENST00000546474.1	-	10	15967	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	BRF1_ENST00000440513.3_Silent_p.R221R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Silent_p.R132R|BRF1_ENST00000446501.2_Silent_p.R98R|BRF1_ENST00000392557.4_Silent_p.R132R|BRF1_ENST00000379937.2_Silent_p.R309R|BRF1_ENST00000327359.3_Silent_p.R221R	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	336					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGGCCTTTGGCCGGCTGTTTT	0.463																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1006-1008)cgG>cgA		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							67.0	76.0	73.0					14																	105692446		2203	4300	6503	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105692446C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1008G>A	14.37:g.105692446C>T						BRF1_ENST00000392557.4_Silent_p.R132R|BRF1_ENST00000446501.2_Silent_p.R98R|BRF1_ENST00000379937.2_Silent_p.R309R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Silent_p.R132R|BRF1_ENST00000440513.3_Silent_p.R221R|BRF1_ENST00000327359.3_Silent_p.R221R	p.R336R	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	10	15967	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	336					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1008G>A	CCDS10001.1																																																																																				0.463	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		4	125	0	0	0	0.184627	0	4	125				
FGB	2244	broad.mit.edu	37	4	155490819	155490819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr4:155490819C>T	ENST00000302068.4	+	7	1175	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	FGB_ENST00000509493.1_Missense_Mutation_p.S152L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	371	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.S371L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCAGATCTCAGTGAACAAA	0.448																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			1	Substitution - Missense(1)	p.S371L(1)	upper_aerodigestive_tract(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1111-1113)tCa>tTa		fibrinogen beta chain	Sucralfate(DB00364)						128.0	106.0	113.0					4																	155490819		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490819C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1112C>T	4.37:g.155490819C>T	ENSP00000306099:p.Ser371Leu					FGB_ENST00000509493.1_Missense_Mutation_p.S152L|FGB_ENST00000502545.1_Intron	p.S371L	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1175	+	all_hematologic(180;0.215)	Renal(120;0.0458)	371			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1112C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152545	0.57259	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.77620	-1.11;-1.11	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.174339	0.50627	D	0.000104	D	0.87253	0.6131	M	0.63428	1.95	0.80722	D	1	D;P	0.89917	1.0;0.822	D;P	0.91635	0.999;0.541	D	0.85252	0.1045	10	0.42905	T	0.14	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	354;371	B4E1D3;P02675	.;FIBB_HUMAN	L	371;354;152	ENSP00000306099:S371L;ENSP00000426757:S152L	ENSP00000306099:S371L	S	+	2	0	FGB	155710269	0.999000	0.42202	0.954000	0.39281	0.242000	0.25591	4.724000	0.61972	2.861000	0.98227	0.655000	0.94253	TCA		0.448	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		21	42	0	0	0	0.592651	0	21	42				
KNDC1	85442	broad.mit.edu	37	10	135026377	135026377	+	Missense_Mutation	SNP	C	C	T	rs540301676		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:135026377C>T	ENST00000304613.3	+	24	4415	c.4394C>T	c.(4393-4395)aCg>aTg	p.T1465M	KNDC1_ENST00000368572.2_Missense_Mutation_p.T1467M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1465					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.T1465M(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACTTCCTGACGGAGTACAGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		18604	0.0		0.0	False		,,,				2504	0.001					ENST00000304613.3																			1	Substitution - Missense(1)	p.T1465M(1)	upper_aerodigestive_tract(1)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4393-4395)aCg>aTg		kinase non-catalytic C-lobe domain (KIND) containing 1							73.0	63.0	66.0					10																	135026377		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135026377C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4394C>T	10.37:g.135026377C>T	ENSP00000304437:p.Thr1465Met					KNDC1_ENST00000368572.2_Missense_Mutation_p.T1467M	p.T1465M			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	24	4415	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1465					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4394C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291049	0.40494	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.29655	1.56;1.56	3.86	2.92	0.33932	Ras guanine nucleotide exchange factor, domain (1);	0.548772	0.16111	N	0.229113	T	0.25232	0.0613	N	0.22421	0.69	0.35358	D	0.787989	D	0.54047	0.964	P	0.50860	0.652	T	0.20672	-1.0268	10	0.28530	T	0.3	-10.5585	6.8006	0.23748	0.2016:0.6023:0.1961:0.0	.	1465	Q76NI1	VKIND_HUMAN	M	1465;1467	ENSP00000304437:T1465M;ENSP00000357561:T1467M	ENSP00000304437:T1465M	T	+	2	0	KNDC1	134876367	0.090000	0.21635	0.728000	0.30774	0.465000	0.32709	0.778000	0.26732	0.689000	0.31550	0.313000	0.20887	ACG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		17	22	0	0	0	0.520397	0	17	22				
REXO1	57455	broad.mit.edu	37	19	1818781	1818781	+	Silent	SNP	G	G	A	rs138422554	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:1818781G>A	ENST00000170168.4	-	9	2920	c.2826C>T	c.(2824-2826)aaC>aaT	p.N942N	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	942						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTAGCCGTTCTCCTTGA	0.667													.|||	2	0.000399361	0.0	0.0014	5008	,	,		15494	0.0		0.001	False		,,,				2504	0.0					ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2824-2826)aaC>aaT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)		G		1,4403		0,1,2201	18.0	19.0	19.0		2826	-6.2	1.0	19	dbSNP_134	19	0,8594		0,0,4297	no	coding-synonymous	REXO1	NM_020695.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		942/1222	1818781	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1818781G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2826C>T	19.37:g.1818781G>A							p.N942N	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2920	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	942					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2826C>T	CCDS32866.1																																																																																				0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		11	19	0	0	0	0.411799	0	11	19				
PCDHB11	56125	broad.mit.edu	37	5	140581481	140581481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr5:140581481C>T	ENST00000354757.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R347W	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	712					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(2134-2136)Cgg>Tgg									90.0	99.0	96.0					5																	140581481		2202	4296	6498	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581481C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2134C>T	5.37:g.140581481C>T	ENSP00000346802:p.Arg712Trp					PCDHB11_ENST00000536699.1_Missense_Mutation_p.R347W	p.R712W	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2134	+			712					B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2134C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009179	0.54361	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17054	2.3;2.3	2.64	-2.95	0.05564	.	.	.	.	.	T	0.25044	0.0608	H	0.97896	4.1	0.09310	N	1	P	0.46621	0.881	B	0.32342	0.144	T	0.29088	-1.0023	9	0.87932	D	0	.	4.0559	0.09816	0.4793:0.2572:0.0:0.2636	.	712	Q9Y5F2	PCDBB_HUMAN	W	347;712	ENSP00000440344:R347W;ENSP00000346802:R712W	ENSP00000346802:R712W	R	+	1	2	PCDHB11	140561665	0.000000	0.05858	0.077000	0.20336	0.927000	0.56198	-1.515000	0.02252	-0.565000	0.06061	0.449000	0.29647	CGG		0.682	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	105	0	0	0	0.184627	0	5	105				
CEP152	22995	broad.mit.edu	37	15	49097837	49097837	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:49097837C>A	ENST00000380950.2	-	2	197	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	CEP152_ENST00000325747.5_Missense_Mutation_p.D4Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D4Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	4					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCAAAGTCTAATGACATG	0.398																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(10-12)Gac>Tac		centrosomal protein 152kDa							134.0	123.0	126.0					15																	49097837		1848	4097	5945	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49097837C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.10G>T	15.37:g.49097837C>A	ENSP00000370337:p.Asp4Tyr					CEP152_ENST00000325747.5_Missense_Mutation_p.D4Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D4Y	p.D4Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	2	197	-		all_lung(180;0.0428)	4					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.10G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103419	0.76983	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.68181	-0.29;-0.31;-0.31	5.02	5.02	0.67125	.	0.051606	0.85682	D	0.000000	T	0.79730	0.4496	L	0.58101	1.795	0.33797	D	0.626212	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.98;0.983;0.977	D	0.85196	0.1012	10	0.87932	D	0	-11.777	18.5286	0.90983	0.0:1.0:0.0:0.0	.	4;4;4	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	4	ENSP00000370337:D4Y;ENSP00000321000:D4Y;ENSP00000382271:D4Y	ENSP00000321000:D4Y	D	-	1	0	CEP152	46885129	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	5.677000	0.68142	2.606000	0.88127	0.591000	0.81541	GAC		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		4	63	1	0	2.56e-06	0.150653	2.99472e-06	4	63				
TEX9	374618	broad.mit.edu	37	15	56665657	56665657	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:56665657G>T	ENST00000352903.2	+	3	162	c.138G>T	c.(136-138)ttG>ttT	p.L46F	TEX9_ENST00000559142.1_3'UTR|TEX9_ENST00000561221.2_Missense_Mutation_p.L46F|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000558083.2_5'UTR	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	46										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		ATGCAGAATTGCAGGCAAAAA	0.274																																						ENST00000561221.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.(136-138)ttG>ttT		testis expressed 9							40.0	41.0	41.0					15																	56665657		2193	4290	6483	SO:0001583	missense	374618							g.chr15:56665657G>T	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.138G>T	15.37:g.56665657G>T	ENSP00000342169:p.Leu46Phe					TEX9_ENST00000559142.1_3'UTR|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000352903.2_Missense_Mutation_p.L46F|TEX9_ENST00000558083.2_5'UTR	p.L46F			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	3	143	+			46					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.138G>T	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740557	0.30865	.	.	ENSG00000151575	ENST00000352903	.	.	.	4.55	-1.17	0.09648	.	0.000000	0.64402	D	0.000005	T	0.66446	0.2790	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62774	-0.6783	9	0.56958	D	0.05	-7.0871	4.9924	0.14220	0.3773:0.0:0.4826:0.1401	.	46	Q8N6V9	TEX9_HUMAN	F	46	.	ENSP00000342169:L46F	L	+	3	2	TEX9	54452949	0.994000	0.37717	0.985000	0.45067	0.234000	0.25298	-0.009000	0.12765	-0.224000	0.09928	-1.094000	0.02160	TTG		0.274	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		10	10	1	0	1.61879e-10	0.411799	1.96794e-10	10	10				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	14	0	0	0	0.115264	0	3	14				
KRTAP10-9	386676	broad.mit.edu	37	21	46047662	46047662	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:46047662T>A	ENST00000397911.3	+	1	623	c.574T>A	c.(574-576)Tgc>Agc	p.C192S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	192	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TAAGCCTGTCTGCTGCAAACC	0.597																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(574-576)Tgc>Agc		keratin associated protein 10-9							277.0	294.0	288.0					21																	46047662		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047662T>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.574T>A	21.37:g.46047662T>A	ENSP00000381009:p.Cys192Ser					KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.C192S	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	623	+			192			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.574T>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	t	4.020	0.001111	0.07819	.	.	ENSG00000221837	ENST00000397911	T	0.02236	4.38	3.23	1.99	0.26369	.	.	.	.	.	T	0.05135	0.0137	M	0.90759	3.145	0.09310	N	0.999999	B	0.22346	0.068	B	0.15052	0.012	T	0.25082	-1.0142	8	.	.	.	.	5.8935	0.18927	0.4278:0.0:0.0:0.5722	.	192	P60411	KR109_HUMAN	S	192	ENSP00000381009:C192S	.	C	+	1	0	KRTAP10-9	44872090	0.992000	0.36948	0.046000	0.18839	0.021000	0.10359	3.767000	0.55288	0.229000	0.21039	0.491000	0.48974	TGC		0.597	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			9	225	0	0	0	0.335167	0	9	225				
FAM135B	51059	broad.mit.edu	37	8	139164859	139164859	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:139164859T>A	ENST00000395297.1	-	13	2029	c.1859A>T	c.(1858-1860)aAg>aTg	p.K620M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	620										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCTATTCCCTTTCCTAGAGT	0.473										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1858-1860)aAg>aTg		family with sequence similarity 135, member B							132.0	129.0	130.0					8																	139164859		1886	4126	6012	SO:0001583	missense	51059							g.chr8:139164859T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1859A>T	8.37:g.139164859T>A	ENSP00000378710:p.Lys620Met	HNSCC(54;0.14)					p.K620M	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2029	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		620					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1859A>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616574	0.46736	.	.	ENSG00000147724	ENST00000395297	T	0.17691	2.26	5.65	1.18	0.20946	.	0.807704	0.11804	N	0.527783	T	0.12263	0.0298	L	0.51422	1.61	0.09310	N	1	P;P;B	0.52316	0.952;0.617;0.085	B;B;B	0.39660	0.306;0.173;0.039	T	0.23904	-1.0175	10	0.48119	T	0.1	-10.2366	1.6603	0.02790	0.1284:0.2729:0.1321:0.4667	.	620;620;620	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	620	ENSP00000378710:K620M	ENSP00000276737:K620M	K	-	2	0	FAM135B	139234041	0.001000	0.12720	0.013000	0.15412	0.010000	0.07245	1.070000	0.30653	0.782000	0.33613	0.533000	0.62120	AAG		0.473	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		39	88	0	0	0	0.804634	0	39	88				
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T	rs374006227		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1864-1866)ttcfs	p.F622fs	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.F368fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1861-1866)ggtcttfs		taste receptor, type 1, member 1																																				SO:0001589	frameshift_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638981_6638982insT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1865dupT	1.37:g.6638983_6638983dupT	ENSP00000331867:p.Phe622fs					TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs|TAS1R1_ENST00000328191.4_3'UTR	p.L622fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2056_2057	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	622					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Frame_Shift_Ins	INS	ENST00000333172.6	37	c.1863_1864insT	CCDS81.1																																																																																				0.599	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			14	56						14	56	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151491486	151491487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:151491486_151491487insT	ENST00000271636.7	+	2	624_625	c.491_492insT	c.(490-495)gcttccfs	p.S165fs		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	159	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGAAAGTGGCTTCCCCAGGTA	0.584																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(490-492)gtcfs		cingulin																																				SO:0001589	frameshift_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491486_151491487insT	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.493dupT	1.37:g.151491488_151491488dupT	ENSP00000271636:p.Ser165fs						p.V164fs	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	624_625	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		158			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Frame_Shift_Ins	INS	ENST00000271636.7	37	c.491_492insT	CCDS999.1																																																																																				0.584	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		7	123						7	123	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152084158	152084175	+	In_Frame_Del	DEL	TCTTGCTCCCGCCTTAGT	TCTTGCTCCCGCCTTAGT	-	rs567793027|rs547816345	byFrequency	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:152084158_152084175delTCTTGCTCCCGCCTTAGT	ENST00000368804.1	-	2	1517_1534	c.1518_1535delACTAAGGCGGGAGCAAGA	c.(1516-1536)caactaaggcgggagcaagag>cag	p.LRREQE507del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	507	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGC	0.651																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1516-1536)cag>ca		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084158_152084175delTCTTGCTCCCGCCTTAGT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1518_1535delACTAAGGCGGGAGCAAGA	1.37:g.152084158_152084175delTCTTGCTCCCGCCTTAGT	ENSP00000357794:p.Leu507_Glu512del						p.QLRREQE506del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1517_1534	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		506			9 X 28 AA approximate tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.1518_1535delACTAAGGCGGGAGCAAGA	CCDS41396.1																																																																																				0.651	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		16	152						16	152	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	4						3	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	8						4	8	---	---	---	---
UPK3A	7380	broad.mit.edu	37	22	45691552	45691553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr22:45691552_45691553insC	ENST00000216211.4	+	6	848_849	c.816_817insC	c.(817-819)ccgfs	p.P273fs	UPK3A_ENST00000396082.2_Frame_Shift_Ins_p.P152fs	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	273			P -> L (found in patients with renal adysplasia; unknown pathological significance; normal targeting to the cell surface; dbSNP:rs121918186). {ECO:0000269|PubMed:15888565}.		cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAACCGGGGGCCGCCACTGGA	0.629																																						ENST00000216211.4																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(814-819)ggcgccfs		uroplakin 3A																																				SO:0001589	frameshift_variant	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45691552_45691553insC	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.818dupC	22.37:g.45691554_45691554dupC	ENSP00000216211:p.Pro273fs					UPK3A_ENST00000396082.2_Frame_Shift_Ins_p.A152fs	p.A273fs	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	848_849	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	273		P -> L (in RADYS; with severe vesicoureteric reflux; normal targeting to the cell surface).			B0QY25|O60261|Q32N05|Q5TII6	Frame_Shift_Ins	INS	ENST00000216211.4	37	c.816_817insC	CCDS14064.1																																																																																				0.629	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		9	80						9	80	---	---	---	---
