#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
DNAH3	55567	broad.mit.edu	37	16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	rs141534193		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1550W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACTGTCCGGAACAAGGCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		23531	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1550W(2)	lung(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4648-4650)Cgg>Tgg		dynein, axonemal, heavy chain 3		G	TRP/ARG	0,4402		0,0,2201	116.0	105.0	109.0		4648	4.5	1.0	16	dbSNP_134	109	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DNAH3	NM_017539.1	101	0,6,6495	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1550/4117	21051256	6,12996	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21051256G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4648C>T	16.37:g.21051256G>A	ENSP00000261383:p.Arg1550Trp					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	33	4647	-			1550			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4648C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162239	0.78226	0.0	6.98E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.15256	2.44;2.44	5.48	4.5	0.54988	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.62478	0.2431	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79614	-0.1730	10	0.87932	D	0	.	13.3483	0.60587	0.0:0.0:0.6813:0.3187	.	1550	Q8TD57	DYH3_HUMAN	W	1550	ENSP00000261383:R1550W;ENSP00000394245:R1550W	ENSP00000261383:R1550W	R	-	1	2	DNAH3	20958757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.607000	0.54102	1.351000	0.45789	0.650000	0.86243	CGG		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	100	0	0	0	1	0	5	100				
ZNF43	7594	broad.mit.edu	37	19	21991424	21991424	+	Missense_Mutation	SNP	T	T	A	rs200283818		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:21991424T>A	ENST00000354959.4	-	4	1584	c.1415A>T	c.(1414-1416)cAt>cTt	p.H472L	ZNF43_ENST00000595461.1_Missense_Mutation_p.H466L|ZNF43_ENST00000598381.1_Missense_Mutation_p.H466L|ZNF43_ENST00000594012.1_Missense_Mutation_p.H466L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTCTTATGTGTAGTAAG	0.363																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1396-1398)cAt>cTt		zinc finger protein 43							61.0	62.0	62.0					19																	21991424		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991424T>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1415A>T	19.37:g.21991424T>A	ENSP00000347045:p.His472Leu					ZNF43_ENST00000354959.4_Missense_Mutation_p.H472L|ZNF43_ENST00000598381.1_Missense_Mutation_p.H466L|ZNF43_ENST00000595461.1_Missense_Mutation_p.H466L	p.H466L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1911	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	472					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1397A>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969592	0.74246	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	D	0.86865	-2.18	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94974	0.8374	H	0.98068	4.14	0.39349	D	0.96572	D	0.76494	0.999	D	0.79108	0.992	D	0.94002	0.7276	9	0.87932	D	0	.	8.2732	0.31857	0.0:0.0:0.0:1.0	.	472	P17038	ZNF43_HUMAN	L	471;472	ENSP00000347045:H472L	ENSP00000347045:H472L	H	-	2	0	ZNF43	21783264	1.000000	0.71417	0.004000	0.12327	0.957000	0.61999	5.478000	0.66806	0.805000	0.34159	0.248000	0.18094	CAT		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		35	105	0	0	0	1	0	35	105				
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(520-522)cGc>cAc		thyroid hormone receptor associated protein 3							188.0	199.0	195.0					1																	36752352		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752352G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.521G>A	1.37:g.36752352G>A	ENSP00000346634:p.Arg174His					THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	745	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	174			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.521G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136105	0.37728	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14022	2.54;2.54	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.23289	0.0563	L	0.59436	1.845	0.42438	D	0.992706	P	0.51791	0.948	P	0.47015	0.534	T	0.00360	-1.1790	10	0.46703	T	0.11	-1.2594	18.8828	0.92364	0.0:0.0:1.0:0.0	.	174	Q9Y2W1	TR150_HUMAN	H	174	ENSP00000346634:R174H;ENSP00000433825:R174H	ENSP00000346634:R174H	R	+	2	0	THRAP3	36524939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.561000	0.53770	2.711000	0.92665	0.655000	0.94253	CGC		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	517	0	0	0	1	0	6	517				
HFM1	164045	broad.mit.edu	37	1	91781407	91781407	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781407G>T	ENST00000370425.3	-	28	3203	c.3105C>A	c.(3103-3105)gaC>gaA	p.D1035E	HFM1_ENST00000294696.5_Missense_Mutation_p.D267E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D714E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1035	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D1035D(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GATTATCTGCGTCACCTATGA	0.313																																						ENST00000370425.3																			1	Substitution - coding silent(1)	p.D1035D(1)	endometrium(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3103-3105)gaC>gaA		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							78.0	77.0	77.0					1																	91781407		2202	4297	6499	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781407G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3105C>A	1.37:g.91781407G>T	ENSP00000359454:p.Asp1035Glu					HFM1_ENST00000370424.3_Missense_Mutation_p.D714E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D267E	p.D1035E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3203	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1035			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3105C>A	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.92|15.92	2.976281|2.976281	0.53720|0.53720	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.67171|.	-0.25;-0.25;-0.25|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Sec63 domain (2);|.	0.329868|.	0.30820|.	N|.	0.008808|.	T|T	0.46132|0.46132	0.1377|0.1377	L|L	0.52206|0.52206	1.635|1.635	0.37555|0.37555	D|D	0.918858|0.918858	D;D;D|.	0.76494|.	0.997;0.998;0.999|.	D;D;D|.	0.76575|.	0.917;0.984;0.988|.	T|T	0.46034|0.46034	-0.9220|-0.9220	10|5	0.66056|.	D|.	0.02|.	.|.	11.1417|11.1417	0.48406|0.48406	0.927:0.0:0.073:0.0|0.927:0.0:0.073:0.0	.|.	714;246;1035|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	E|K	1035;267;714;719|247	ENSP00000359454:D1035E;ENSP00000294696:D267E;ENSP00000359453:D714E|.	ENSP00000294696:D267E|.	D|T	-|-	3|2	2|0	HFM1|HFM1	91553995|91553995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.775000|0.775000	0.43874|0.43874	4.029000|4.029000	0.57253|0.57253	0.843000|0.843000	0.35070|0.35070	-0.550000|-0.550000	0.04213|0.04213	GAC|ACG		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		16	73	1	0	6.31663e-08	1	6.69945e-08	16	73				
CDC27	996	broad.mit.edu	37	17	45234475	45234475	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:45234475T>G	ENST00000066544.3	-	7	739	c.646A>C	c.(646-648)Aat>Cat	p.N216H	CDC27_ENST00000446365.2_Missense_Mutation_p.N155H|CDC27_ENST00000527547.1_Missense_Mutation_p.N216H|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.N216H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTCTAAATTCAATCTGTTT	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(646-648)Aat>Cat		cell division cycle 27							21.0	24.0	23.0					17																	45234475		2139	4277	6416	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234475T>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.646A>C	17.37:g.45234475T>G	ENSP00000066544:p.Asn216His					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.N216H|CDC27_ENST00000527547.1_Missense_Mutation_p.N216H|CDC27_ENST00000446365.2_Missense_Mutation_p.N155H	p.N216H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	739	-			216					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.646A>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611031	0.46631	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.38;-0.38;-0.08;-0.38;0.75	5.82	4.75	0.60458	.	0.094778	0.64402	D	0.000001	T	0.59689	0.2212	N	0.24115	0.695	0.52099	D	0.999942	P;B;D;P	0.54964	0.913;0.07;0.969;0.947	B;B;P;P	0.50970	0.339;0.013;0.655;0.453	T	0.58983	-0.7539	10	0.41790	T	0.15	-21.7237	10.1185	0.42605	0.0:0.079:0.0:0.921	.	155;216;216;216	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	216;216;155;216;216	ENSP00000066544:N216H;ENSP00000434614:N216H;ENSP00000392802:N155H;ENSP00000437339:N216H;ENSP00000432105:N216H	ENSP00000066544:N216H	N	-	1	0	CDC27	42589474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.522000	0.81844	1.033000	0.39918	0.455000	0.32223	AAT		0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	40	0	0	0	1	0	3	40				
SMARCA4	6597	broad.mit.edu	37	19	11113801	11113801	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:11113801G>A	ENST00000429416.3	+	13	2190	c.1909G>A	c.(1909-1911)Ggg>Agg	p.G637R	SMARCA4_ENST00000590574.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G637R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G637R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G637R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	637					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCCAAAGCCGGGCAGCTGGA	0.622			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1909-1911)Ggg>Agg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							64.0	69.0	67.0					19																	11113801		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11113801G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1909G>A	19.37:g.11113801G>A	ENSP00000395654:p.Gly637Arg					SMARCA4_ENST00000444061.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G637R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G637R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G637R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G637R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G637R	p.G637R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			12	2193	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	637					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1909G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909906	0.52439	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.57	4.57	0.56435	BRK domain (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	N	0.11427	0.14	0.48632	D	0.999685	B;B;B;B;D;B;B	0.76494	0.382;0.382;0.382;0.374;0.999;0.228;0.228	B;B;B;B;D;B;B	0.64776	0.107;0.107;0.107;0.183;0.929;0.107;0.107	T	0.36578	-0.9742	10	0.35671	T	0.21	-47.1934	16.6596	0.85238	0.0:0.0:1.0:0.0	.	637;637;637;637;637;637;637	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	R	637;637;701;637;637;637;637;637	ENSP00000395654:G637R;ENSP00000350720:G637R;ENSP00000343896:G637R;ENSP00000445036:G637R;ENSP00000392837:G637R;ENSP00000397783:G637R;ENSP00000414727:G637R	ENSP00000343896:G637R	G	+	1	0	SMARCA4	10974801	0.999000	0.42202	0.961000	0.40146	0.820000	0.46376	2.887000	0.48586	2.526000	0.85167	0.563000	0.77884	GGG		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		43	113	0	0	0	1	0	43	113				
EIF4B	1975	broad.mit.edu	37	12	53433969	53433969	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:53433969G>A	ENST00000262056.9	+	15	2124	c.1798G>A	c.(1798-1800)Ggt>Agt	p.G600S	RP11-983P16.4_ENST00000546767.1_RNA|RP11-983P16.4_ENST00000607643.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.G605S|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G561S|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	600					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCTGTTGATGGTGAAGATGA	0.438																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1798-1800)Ggt>Agt		eukaryotic translation initiation factor 4B							112.0	105.0	107.0					12																	53433969		1887	4107	5994	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53433969G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1798G>A	12.37:g.53433969G>A	ENSP00000262056:p.Gly600Ser					EIF4B_ENST00000420463.3_Missense_Mutation_p.G605S|EIF4B_ENST00000416762.3_Missense_Mutation_p.G561S|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA	p.G600S	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			15	2124	+			600					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1798G>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869702	0.91587	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T	0.55234	0.53;0.53	4.26	4.26	0.50523	.	0.124034	0.52532	D	0.000065	T	0.65729	0.2719	L	0.48642	1.525	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.68443	-0.5407	10	0.87932	D	0	.	14.9908	0.71387	0.0:0.0:1.0:0.0	.	561;605;576;600	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	S	600;605;576;561	ENSP00000262056:G600S;ENSP00000388806:G605S	ENSP00000262056:G600S	G	+	1	0	EIF4B	51720236	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.760000	0.91671	2.654000	0.90174	0.484000	0.47621	GGT		0.438	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		16	63	0	0	0	1	0	16	63				
BCLAF1	9774	broad.mit.edu	37	6	136593156	136593156	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:136593156C>G	ENST00000531224.1	-	8	2272	c.2020G>C	c.(2020-2022)Gtt>Ctt	p.V674L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.V501L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V674L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V672L|BCLAF1_ENST00000529917.1_5'Flank|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V672L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V672L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	674					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTTAAAAACTCTCTCTTCC	0.289																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2020-2022)Gtt>Ctt		BCL2-associated transcription factor 1							79.0	79.0	79.0					6																	136593156		2203	4296	6499	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136593156C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2020G>C	6.37:g.136593156C>G	ENSP00000435210:p.Val674Leu					BCLAF1_ENST00000392348.2_Missense_Mutation_p.V672L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V672L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V501L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V672L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V674L	p.V674L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	8	2272	-	Colorectal(23;0.24)		674					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2020G>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898573	0.52227	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13196	4.37;4.37;4.37;2.61;4.37;4.37;2.79	5.05	4.18	0.49190	.	0.228496	0.30277	N	0.009993	T	0.02083	0.0065	N	0.04203	-0.255	0.80722	D	1	B;B;B;B	0.30824	0.228;0.296;0.228;0.015	B;B;B;B	0.29862	0.108;0.047;0.108;0.015	T	0.39333	-0.9619	10	0.10902	T	0.67	-0.778	13.544	0.61693	0.0:0.9243:0.0:0.0757	.	672;672;674;501	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	674;672;674;501;672;672;673	ENSP00000435210:V674L;ENSP00000229446:V672L;ENSP00000435441:V674L;ENSP00000436501:V501L;ENSP00000434826:V672L;ENSP00000376159:V672L;ENSP00000431734:V673L	ENSP00000229446:V672L	V	-	1	0	BCLAF1	136634849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.215000	0.51169	1.259000	0.44117	0.591000	0.81541	GTT		0.289	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		8	154	0	0	0	1	0	8	154				
SLC35F5	80255	broad.mit.edu	37	2	114513046	114513046	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:114513046C>T	ENST00000245680.2	-	2	529	c.116G>A	c.(115-117)aGg>aAg	p.R39K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.R33K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	39					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CTTAAGAGCCCTTCTGAGATC	0.388																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(115-117)aGg>aAg		solute carrier family 35, member F5							109.0	106.0	107.0					2																	114513046		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114513046C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.116G>A	2.37:g.114513046C>T	ENSP00000245680:p.Arg39Lys					SLC35F5_ENST00000409342.1_Missense_Mutation_p.R33K	p.R39K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			2	529	-			39					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.116G>A	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	1.385	-0.582414	0.03827	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.39997	1.07;1.05	5.36	4.2	0.49525	.	0.672540	0.13651	N	0.372290	T	0.14527	0.0351	N	0.02011	-0.69	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26985	-1.0087	10	0.02654	T	1	0.0	7.8264	0.29318	0.0:0.092:0.0:0.908	.	39;33;39	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	K	39;33;33	ENSP00000245680:R39K;ENSP00000386754:R33K	ENSP00000245680:R39K	R	-	2	0	SLC35F5	114229516	1.000000	0.71417	0.264000	0.24511	0.278000	0.26855	2.063000	0.41423	1.056000	0.40484	-0.247000	0.11927	AGG		0.388	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		7	64	0	0	0	1	0	7	64				
COL19A1	1310	broad.mit.edu	37	6	70897859	70897859	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:70897859C>G	ENST00000322773.4	+	47	3039	c.2937C>G	c.(2935-2937)atC>atG	p.I979M	COL19A1_ENST00000393344.1_Missense_Mutation_p.I601M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	979	Collagen-like 11.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGGGCCATCGGTCCTATGG	0.562																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2935-2937)atC>atG		collagen, type XIX, alpha 1							72.0	70.0	70.0					6																	70897859		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70897859C>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2937C>G	6.37:g.70897859C>G	ENSP00000316030:p.Ile979Met					COL19A1_ENST00000393344.1_Missense_Mutation_p.I601M	p.I979M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			47	3039	+			979			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2937C>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	1.629	-0.519444	0.04171	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.94280	-3.39;-3.39	5.27	2.89	0.33648	.	0.441347	0.23284	N	0.049875	T	0.80486	0.4632	N	0.14661	0.345	0.33000	D	0.526109	P	0.48694	0.914	P	0.48334	0.574	T	0.77998	-0.2376	10	0.46703	T	0.11	.	5.0175	0.14345	0.6563:0.1657:0.178:0.0	.	979	Q14993	COJA1_HUMAN	M	979;601;54	ENSP00000316030:I979M;ENSP00000377013:I601M	ENSP00000316030:I979M	I	+	3	3	COL19A1	70954580	0.993000	0.37304	0.816000	0.32577	0.049000	0.14656	1.171000	0.31896	0.336000	0.23639	-0.262000	0.10625	ATC		0.562	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			15	47	0	0	0	1	0	15	47				
KIF4B	285643	broad.mit.edu	37	5	154393522	154393522	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:154393522G>A	ENST00000435029.4	+	1	263	c.103G>A	c.(103-105)Gtg>Atg	p.V35M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	35	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTTCCTTCGTGCCCGGGGA	0.517																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(103-105)Gtg>Atg		kinesin family member 4B							109.0	103.0	105.0					5																	154393522		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393522G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.103G>A	5.37:g.154393522G>A	ENSP00000387875:p.Val35Met						p.V35M	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	263	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	35			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.103G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.306401	0.40795	.	.	ENSG00000226650	ENST00000435029	T	0.75367	-0.93	1.48	0.566	0.17317	Kinesin, motor domain (4);	.	.	.	.	T	0.73241	0.3562	L	0.43646	1.37	0.48087	D	0.999582	D	0.63046	0.992	P	0.60173	0.87	T	0.67465	-0.5664	9	0.36615	T	0.2	.	5.7422	0.18100	0.1985:0.0:0.8015:0.0	.	35	Q2VIQ3	KIF4B_HUMAN	M	35	ENSP00000387875:V35M	ENSP00000387875:V35M	V	+	1	0	KIF4B	154373715	0.998000	0.40836	0.748000	0.31131	0.421000	0.31385	0.841000	0.27613	0.189000	0.20188	0.563000	0.77884	GTG		0.517	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			29	85	0	0	0	1	0	29	85				
SLC22A23	63027	broad.mit.edu	37	6	3284146	3284146	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:3284146G>A	ENST00000406686.3	-	9	1642	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000436008.2_Missense_Mutation_p.S556F|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S267F|SLC22A23_ENST00000490273.1_Missense_Mutation_p.S267F	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	548					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CACCGCATGGGAGGCAAACAT	0.587																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1666-1668)tCc>tTc		solute carrier family 22, member 23							96.0	84.0	88.0					6																	3284146		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3284146G>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1643C>T	6.37:g.3284146G>A	ENSP00000385028:p.Ser548Phe					SLC22A23_ENST00000490273.1_Missense_Mutation_p.S267F|SLC22A23_ENST00000406686.3_Missense_Mutation_p.S548F|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S267F	p.S556F			A1A5C7	S22AN_HUMAN			10	2129	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	548					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1667C>T	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871432	0.91587	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.115061	0.64402	D	0.000010	T	0.79028	0.4377	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.81090	-0.1090	10	0.72032	D	0.01	-29.2012	17.845	0.88727	0.0:0.0:1.0:0.0	.	556;548	C9J4Z0;A1A5C7	.;S22AN_HUMAN	F	556;548;267;267;376;374	ENSP00000410245:S556F;ENSP00000385028:S548F;ENSP00000369657:S267F;ENSP00000419463:S267F;ENSP00000418134:S376F;ENSP00000418985:S374F	ENSP00000369657:S267F	S	-	2	0	SLC22A23	3229145	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	9.303000	0.96183	2.434000	0.82447	0.655000	0.94253	TCC		0.587	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		15	31	0	0	0	1	0	15	31				
MLH3	27030	broad.mit.edu	37	14	75514995	75514995	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:75514995T>G	ENST00000556740.1	-	1	1399	c.1364A>C	c.(1363-1365)gAg>gCg	p.E455A	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.E455A|MLH3_ENST00000355774.2_Missense_Mutation_p.E455A|MLH3_ENST00000238662.7_Missense_Mutation_p.E455A|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	455					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TAAAGATGGCTCTGTCATTTT	0.368								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1363-1365)gAg>gCg	Mismatch excision repair (MMR)	mutL homolog 3							83.0	81.0	82.0					14																	75514995		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514995T>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1364A>C	14.37:g.75514995T>G	ENSP00000452316:p.Glu455Ala					MLH3_ENST00000556740.1_Missense_Mutation_p.E455A|MLH3_ENST00000556257.1_Missense_Mutation_p.E455A|MLH3_ENST00000238662.7_Missense_Mutation_p.E455A|MLH3_ENST00000380968.2_5'UTR	p.E455A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1579	-			455					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1364A>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	3.479	-0.106274	0.06924	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.85171	-1.82;-1.88;-1.95;-1.82	4.93	3.74	0.42951	.	0.525950	0.19799	N	0.105797	D	0.90045	0.6891	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.81914	0.995;0.867	D	0.87764	0.2600	10	0.40728	T	0.16	-7.1221	9.6098	0.39657	0.1559:0.0:0.0:0.8441	.	455;455	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	A	455	ENSP00000348020:E455A;ENSP00000238662:E455A;ENSP00000451540:E455A;ENSP00000452316:E455A	ENSP00000238662:E455A	E	-	2	0	MLH3	74584748	0.062000	0.20869	0.081000	0.20488	0.206000	0.24218	0.768000	0.26590	0.859000	0.35456	0.477000	0.44152	GAG		0.368	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		50	168	0	0	0	1	0	50	168				
ACP7	390928	broad.mit.edu	37	19	39590903	39590903	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:39590903G>A	ENST00000331256.5	+	5	816	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		181						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GACAACGCCCGTGTTGGGGAT	0.587																																						ENST00000331256.5																			0											c.(541-543)cGt>cAt									120.0	103.0	109.0					19																	39590903		2203	4300	6503	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39590903G>A																												ENST00000331256.5:c.542G>A	19.37:g.39590903G>A	ENSP00000327557:p.Arg181His					PAPL_ENST00000594229.1_Intron	p.R181H	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			5	816	+			181					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.542G>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396210	0.62177	.	.	ENSG00000183760	ENST00000331256	D	0.84944	-1.92	4.75	3.71	0.42584	Metallophosphoesterase domain (1);	0.057732	0.64402	D	0.000007	D	0.87095	0.6092	L	0.52126	1.63	0.30805	N	0.739468	D	0.76494	0.999	D	0.66351	0.943	D	0.83599	0.0127	10	0.41790	T	0.15	-13.1775	7.6333	0.28251	0.1903:0.0:0.8097:0.0	.	181	Q6ZNF0	PAPL_HUMAN	H	181	ENSP00000327557:R181H	ENSP00000327557:R181H	R	+	2	0	AC011443.1	44282743	0.729000	0.28090	0.027000	0.17364	0.765000	0.43378	3.073000	0.50057	1.345000	0.45676	0.655000	0.94253	CGT		0.587	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			28	91	0	0	0	1	0	28	91				
SCN3A	6328	broad.mit.edu	37	2	166003437	166003437	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:166003437T>G	ENST00000360093.3	-	12	1974	c.1483A>C	c.(1483-1485)Agt>Cgt	p.S495R	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.S495R|SCN3A_ENST00000283254.7_Missense_Mutation_p.S495R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	495				S -> G (in Ref. 2; AAK00219). {ECO:0000305}.	membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTAGCACTTTTGGAACTC	0.448																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1483-1485)Agt>Cgt		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						172.0	171.0	172.0					2																	166003437		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003437T>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1483A>C	2.37:g.166003437T>G	ENSP00000353206:p.Ser495Arg					SCN3A_ENST00000409101.3_Missense_Mutation_p.S495R|SCN3A_ENST00000283254.7_Missense_Mutation_p.S495R	p.S495R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			12	1974	-			495	S -> G (in Ref. 2; AAK00219).				Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1483A>C		.	.	.	.	.	.	.	.	.	.	T	23.1	4.380847	0.82792	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.58	5.58	0.84498	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.81914	0.995;0.995;0.991;0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	16.0334	0.80603	0.0:0.0:0.0:1.0	.	495;495;495;495;495	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	495	ENSP00000353206:S495R;ENSP00000283254:S495R;ENSP00000386726:S495R;ENSP00000403348:S495R	ENSP00000283254:S495R	S	-	1	0	SCN3A	165711683	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.655000	0.83696	2.243000	0.73865	0.533000	0.62120	AGT		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	209	0	0	0	1	0	6	209				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652235C>G																													10.37:g.45652235C>G														0	1749	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.478	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			4	32	0	0	0	1	0	4	32				
NCKAP1	10787	broad.mit.edu	37	2	183888545	183888545	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:183888545G>A	ENST00000361354.4	-	2	580	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R76C|Y_RNA_ENST00000365271.1_RNA	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	70					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R76C(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGTTGCGGGTTTCTACA	0.368																																						ENST00000360982.2																			1	Substitution - Missense(1)	p.R76C(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(226-228)Cgc>Tgc		NCK-associated protein 1							164.0	164.0	164.0					2																	183888545		2203	4298	6501	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183888545G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.208C>T	2.37:g.183888545G>A	ENSP00000355348:p.Arg70Cys					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R70C	p.R76C	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	984	-			70					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.226C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188157	0.78789	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38240	1.15;1.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.60296	-0.7291	10	0.87932	D	0	-6.8577	19.5718	0.95423	0.0:0.0:1.0:0.0	.	70;76	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	70;76	ENSP00000355348:R70C;ENSP00000354251:R76C	ENSP00000354251:R76C	R	-	1	0	NCKAP1	183596790	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.849000	0.86908	2.715000	0.92844	0.585000	0.79938	CGC		0.368	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		35	125	0	0	0	1	0	35	125				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			8	76	0	0	0	1	0	8	76				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	50	0	0	0	1	0	4	50				
MCTP1	79772	broad.mit.edu	37	5	94044269	94044269	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:94044269T>A	ENST00000515393.1	-	22	2875	c.2876A>T	c.(2875-2877)gAt>gTt	p.D959V	MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Missense_Mutation_p.D652V|MCTP1_ENST00000312216.8_Missense_Mutation_p.D738V|MCTP1_ENST00000505078.1_Missense_Mutation_p.D475V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	959					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCATTGTTATCAATTGCATA	0.333																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2875-2877)gAt>gTt		multiple C2 domains, transmembrane 1							143.0	133.0	137.0					5																	94044269		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94044269T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2876A>T	5.37:g.94044269T>A	ENSP00000424126:p.Asp959Val					MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.D475V|MCTP1_ENST00000429576.2_Missense_Mutation_p.D652V|MCTP1_ENST00000312216.8_Missense_Mutation_p.D738V|ANKRD32_ENST00000493934.1_Intron	p.D959V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	22	2875	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	959					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2876A>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539894	0.85917	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79749	-1.3;-1.04;-0.21;-1.15;-1.03	5.1	5.1	0.69264	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.985	D;D;P	0.83275	0.951;0.996;0.714	D	0.89715	0.3915	10	0.62326	D	0.03	-11.7453	15.1705	0.72869	0.0:0.0:0.0:1.0	.	959;652;738	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	V	959;652;475;738;679	ENSP00000424126:D959V;ENSP00000391639:D652V;ENSP00000426417:D475V;ENSP00000308957:D738V;ENSP00000423410:D679V	ENSP00000308957:D738V	D	-	2	0	MCTP1	94070025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.059000	0.61396	0.533000	0.62120	GAT		0.333	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		28	57	0	0	0	1	0	28	57				
XBP1	7494	broad.mit.edu	37	22	29195100	29195100	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:29195100C>A	ENST00000216037.6	-	2	341	c.269G>T	c.(268-270)cGa>cTa	p.R90L	CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA|XBP1_ENST00000405219.3_Missense_Mutation_p.R40L|CTA-292E10.6_ENST00000458080.1_RNA|XBP1_ENST00000344347.5_Missense_Mutation_p.R90L|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000403532.3_Missense_Mutation_p.R90L	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	90	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGCCTTCTTTCGATCTCTGGC	0.388																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(268-270)cGa>cTa		X-box binding protein 1							116.0	104.0	108.0					22																	29195100		2203	4300	6503	SO:0001583	missense	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29195100C>A	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.269G>T	22.37:g.29195100C>A	ENSP00000216037:p.Arg90Leu					XBP1_ENST00000405219.3_Missense_Mutation_p.R40L|XBP1_ENST00000344347.5_Missense_Mutation_p.R90L|XBP1_ENST00000403532.3_Missense_Mutation_p.R90L	p.R90L	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			2	341	-			90					Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	c.269G>T	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444893	0.96187	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.26	5.26	0.73747	.	0.115638	0.64402	D	0.000009	D	0.86205	0.5877	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89621	0.3848	9	0.87932	D	0	.	17.4401	0.87562	0.0:1.0:0.0:0.0	.	90;40	P17861-2;B1AHH1	.;.	L	90;90;90;40	.	ENSP00000216037:R90L	R	-	2	0	XBP1	27525100	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.554000	0.73923	2.454000	0.82982	0.655000	0.94253	CGA		0.388	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		20	72	1	0	1.1804e-14	1	1.31853e-14	20	72				
DPH5	51611	broad.mit.edu	37	1	101456040	101456040	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:101456040G>A	ENST00000370109.3	-	8	894	c.782C>T	c.(781-783)cCa>cTa	p.P261L	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.P260L|DPH5_ENST00000488176.1_Missense_Mutation_p.P261L|AC093157.1_ENST00000593496.1_Missense_Mutation_p.G12R|DPH5_ENST00000427040.2_Missense_Mutation_p.P22L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	261					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CATCTCCATTGGATGTATGCT	0.423																																						ENST00000593496.1																			0											c.(34-36)Gga>Aga									152.0	147.0	149.0					1																	101456040		2054	4196	6250	SO:0001583	missense	51611							g.chr1:101456040G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.782C>T	1.37:g.101456040G>A	ENSP00000359127:p.Pro261Leu					DPH5_ENST00000488176.1_Missense_Mutation_p.P261L|DPH5_ENST00000427040.2_Missense_Mutation_p.P22L|DPH5_ENST00000342173.7_Missense_Mutation_p.P260L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000370109.3_Missense_Mutation_p.P261L	p.G12R							1	280	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.34G>A	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120701	0.77436	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	5.85	0.93711	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.78916	2.43	0.80722	D	1	P;B	0.36660	0.564;0.209	B;B	0.33690	0.168;0.082	T	0.54669	-0.8259	9	0.10902	T	0.67	-10.0281	17.9364	0.89013	0.0:0.0:1.0:0.0	.	261;260	Q9H2P9;A8JZY6	DPH5_HUMAN;.	L	261;260;210;22;260;261	.	ENSP00000339630:P260L	P	-	2	0	DPH5	101228628	1.000000	0.71417	0.983000	0.44433	0.545000	0.35147	7.064000	0.76721	2.773000	0.95371	0.655000	0.94253	CCA		0.423	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		49	180	0	0	0	1	0	49	180				
DARS2	55157	broad.mit.edu	37	1	173795824	173795824	+	Splice_Site	SNP	G	G	A	rs267598175		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173795824G>A	ENST00000361951.4	+	2	854		c.e2-1		DARS2_ENST00000239457.5_Splice_Site|CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000345664.6_5'Flank|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000356198.2_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTTTTTTAAAGAATTCAGTAG	0.348																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.e2-1		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						56.0	57.0	57.0					1																	173795824		2203	4300	6503	SO:0001630	splice_region_variant	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795824G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.128-1G>A	1.37:g.173795824G>A						DARS2_ENST00000239457.5_Splice_Site		NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			2	854	+									Splice_Site	SNP	ENST00000361951.4	37		CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.809021	0.16537	.	.	ENSG00000117593	ENST00000361951	.	.	.	5.07	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4085	0.11421	0.0854:0.1262:0.5579:0.2304	.	.	.	.	.	-1	.	.	.	+	.	.	DARS2	172062447	1.000000	0.71417	0.791000	0.31998	0.252000	0.25951	7.534000	0.82004	1.260000	0.44134	0.467000	0.42956	.		0.348	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	Intron	10	65	0	0	0	1	0	10	65				
ZNF394	84124	broad.mit.edu	37	7	99091497	99091497	+	Silent	SNP	G	G	A	rs377630090		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF394_ENST00000394177.3_5'Flank|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGTTTCCCCGCATTCCTCAC	0.428																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1339-1341)tgC>tgT		zinc finger protein 394		G		1,4405	2.1+/-5.4	0,1,2202	127.0	128.0	127.0		1341	-2.0	0.9	7		127	0,8600		0,0,4300	no	coding-synonymous	ZNF394	NM_032164.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		447/562	99091497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091497G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1341C>T	7.37:g.99091497G>A						ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.C447C	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1544	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		447					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.1341C>T	CCDS5666.1																																																																																				0.428	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	290	0	0	0	1	0	5	290				
CTB-134H23.3	0	broad.mit.edu	37	16	29113381	29113381	+	RNA	SNP	A	A	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:29113381A>G	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							CATTAGGAGTACCACTGGAGG	0.473																																						ENST00000564580.1																			0																																																			653390							g.chr16:29113381A>G																													16.37:g.29113381A>G														0	1281	+									RNA	SNP	ENST00000562618.1	37			.	.	.	.	.	.	.	.	.	.	a	1.428	-0.570904	0.03910	.	.	ENSG00000103472	ENST00000427965	.	.	.	2.2	2.2	0.27929	.	0.292228	0.31381	N	0.007756	T	0.22859	0.0552	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31024	-0.9958	5	0.06236	T	0.91	.	8.0135	0.30368	1.0:0.0:0.0:0.0	.	.	.	.	A	425	.	ENSP00000398611:T425A	T	+	1	0	AC009093.1	29020882	0.991000	0.36638	0.389000	0.26208	0.051000	0.14879	3.558000	0.53749	1.015000	0.39444	0.324000	0.21423	ACC		0.473	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			28	73	0	0	0	1	0	28	73				
DNMT3A	1788	broad.mit.edu	37	2	25469931	25469931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:25469931C>A	ENST00000264709.3	-	9	1448	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E371*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E182*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E148*|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	371	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGGACCTCGTAGATGGCT	0.597			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1111-1113)Gag>Tag		DNA (cytosine-5-)-methyltransferase 3 alpha							118.0	83.0	95.0					2																	25469931		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469931C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1111G>T	2.37:g.25469931C>A	ENSP00000264709:p.Glu371*					DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E371*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E148*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E182*	p.E371*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			9	1448	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		371			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1111G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.431299	0.98279	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.8696	16.2402	0.82402	0.0:1.0:0.0:0.0	.	.	.	.	X	182;371;371;148	.	ENSP00000264709:E371X	E	-	1	0	DNMT3A	25323435	0.995000	0.38212	0.893000	0.35052	0.975000	0.68041	3.071000	0.50041	2.401000	0.81631	0.655000	0.94253	GAG		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		13	29	1	0	1.5842e-08	1	1.69736e-08	13	29				
DENND5A	23258	broad.mit.edu	37	11	9192362	9192362	+	Intron	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr11:9192362C>T	ENST00000328194.3	-	9	2227				DENND5A_ENST00000527700.1_De_novo_Start_OutOfFrame|DENND5A_ENST00000530044.1_Intron	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A						positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						cacacacacacacataaatac	0.383																																						ENST00000527700.1																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39								DENN/MADD domain containing 5A							71.0	72.0	72.0					11																	9192362		2201	4296	6497	SO:0001627	intron_variant	23258							g.chr11:9192362C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1907-38G>A	11.37:g.9192362C>T						DENND5A_ENST00000328194.3_Intron|DENND5A_ENST00000530044.1_Intron				Q6IQ26	DEN5A_HUMAN			0	1430	-								B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Translation_Start_Site	SNP	ENST00000328194.3	37		CCDS31423.1																																																																																				0.383	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		6	101	0	0	0	1	0	6	101				
C9orf84	158401	broad.mit.edu	37	9	114470140	114470140	+	Silent	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr9:114470140T>C	ENST00000318737.4	-	17	2489	c.2361A>G	c.(2359-2361)ttA>ttG	p.L787L	C9orf84_ENST00000394777.4_Silent_p.L713L|C9orf84_ENST00000394779.3_Silent_p.L748L|C9orf84_ENST00000374287.3_Silent_p.L787L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	787										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTACCCCCTTAAAACACCTT	0.318																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2242-2244)ttA>ttG		chromosome 9 open reading frame 84							96.0	111.0	106.0					9																	114470140		2202	4298	6500	SO:0001819	synonymous_variant	158401							g.chr9:114470140T>C	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2361A>G	9.37:g.114470140T>C						C9orf84_ENST00000394777.4_Silent_p.L713L|C9orf84_ENST00000374287.3_Silent_p.L787L|C9orf84_ENST00000318737.4_Silent_p.L787L	p.L748L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			15	2488	-			787					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.2244A>G	CCDS6781.3																																																																																				0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		4	180	0	0	0	1	0	4	180				
LYZL2	119180	broad.mit.edu	37	10	30915092	30915092	+	Silent	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:30915092G>A	ENST00000375318.2	-	3	434	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	80					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCACCACGCGAAGCTGTTGA	0.577																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(376-378)ttC>ttT		lysozyme-like 2							173.0	139.0	151.0					10																	30915092		2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915092G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.378C>T	10.37:g.30915092G>A							p.F126F	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	434	-		Prostate(175;0.151)	80					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.378C>T	CCDS7167.2																																																																																				0.577	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		23	65	0	0	0	1	0	23	65				
SEC14L1	6397	broad.mit.edu	37	17	75199695	75199695	+	Silent	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:75199695C>G	ENST00000413679.2	+	10	1356	c.1053C>G	c.(1051-1053)acC>acG	p.T351T	SEC14L1_ENST00000591437.1_Silent_p.T317T|SEC14L1_ENST00000443798.4_Silent_p.T351T|SEC14L1_ENST00000585618.1_Silent_p.T351T|SEC14L1_ENST00000430767.4_Silent_p.T351T|SEC14L1_ENST00000436233.4_Silent_p.T351T|SEC14L1_ENST00000392476.2_Silent_p.T351T|SEC14L1_ENST00000431431.2_Silent_p.T317T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	351	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGATGGACACCAAAGGCTTGG	0.582																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1051-1053)acC>acG		SEC14-like 1 (S. cerevisiae)							50.0	43.0	45.0					17																	75199695		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75199695C>G	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1053C>G	17.37:g.75199695C>G						SEC14L1_ENST00000392476.2_Silent_p.T351T|SEC14L1_ENST00000431431.2_Silent_p.T317T|SEC14L1_ENST00000436233.4_Silent_p.T351T|SEC14L1_ENST00000443798.4_Silent_p.T351T|SEC14L1_ENST00000591437.1_Silent_p.T317T|SEC14L1_ENST00000585618.1_Silent_p.T351T|SEC14L1_ENST00000430767.4_Silent_p.T351T	p.T351T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			10	1356	+			351			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1053C>G	CCDS11752.1																																																																																				0.582	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		10	31	0	0	0	1	0	10	31				
CYLC1	1538	broad.mit.edu	37	X	83129427	83129427	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:83129427G>A	ENST00000329312.4	+	4	1748	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	571					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGATGGAAGGACTGGA	0.378																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1711-1713)Gaa>Aaa		cylicin, basic protein of sperm head cytoskeleton 1							54.0	49.0	51.0					X																	83129427		2201	4297	6498	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129427G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1711G>A	X.37:g.83129427G>A	ENSP00000331556:p.Glu571Lys						p.E571K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1748	+			571					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1711G>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	4.528	0.098034	0.08681	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49432	0.78	3.75	3.75	0.43078	.	.	.	.	.	T	0.39332	0.1074	L	0.47190	1.495	0.09310	N	1	B;B	0.28470	0.095;0.213	B;B	0.33799	0.17;0.086	T	0.28202	-1.0051	9	0.08837	T	0.75	-4.72	10.0223	0.42051	0.0:0.0:1.0:0.0	.	571;571	P35663;F5H4V5	CYLC1_HUMAN;.	K	571	ENSP00000331556:E571K	ENSP00000331556:E571K	E	+	1	0	CYLC1	83016083	0.802000	0.28943	0.008000	0.14137	0.006000	0.05464	0.652000	0.24888	2.116000	0.64780	0.600000	0.82982	GAA		0.378	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		20	11	0	0	0	1	0	20	11				
CEP162	22832	broad.mit.edu	37	6	84884658	84884658	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:84884658A>G	ENST00000403245.3	-	15	1927	c.1813T>C	c.(1813-1815)Tgt>Cgt	p.C605R	KIAA1009_ENST00000257766.4_Missense_Mutation_p.C529R|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTCACCACAGTATCCTAAG	0.348																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1813-1815)Tgt>Cgt		KIAA1009							46.0	39.0	41.0					6																	84884658		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84884658A>G																												ENST00000403245.3:c.1813T>C	6.37:g.84884658A>G	ENSP00000385215:p.Cys605Arg					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.C529R	p.C605R	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	15	1927	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	605						Missense_Mutation	SNP	ENST00000403245.3	37	c.1813T>C	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	A	0.591	-0.833209	0.02713	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16743	2.32;2.33	5.36	-2.35	0.06684	.	2.134480	0.01579	N	0.020956	T	0.02083	0.0065	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34576	-0.9823	10	0.25106	T	0.35	12.6715	1.7188	0.02907	0.3222:0.1334:0.4094:0.135	.	605	Q5TB80	QN1_HUMAN	R	529;605	ENSP00000257766:C529R;ENSP00000385215:C605R	ENSP00000257766:C529R	C	-	1	0	KIAA1009	84941377	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.349000	0.07731	-0.706000	0.05028	0.460000	0.39030	TGT		0.348	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			6	14	0	0	0	1	0	6	14				
TPP2	7174	broad.mit.edu	37	13	103326700	103326700	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr13:103326700C>T	ENST00000376065.4	+	27	3436	c.3400C>T	c.(3400-3402)Cat>Tat	p.H1134Y	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.H1147Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1134					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGGCAGACCATCTTCTTCA	0.448																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(3439-3441)Cat>Tat		tripeptidyl peptidase II							107.0	100.0	102.0					13																	103326700		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103326700C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3400C>T	13.37:g.103326700C>T	ENSP00000365233:p.His1134Tyr					TPP2_ENST00000376065.4_Missense_Mutation_p.H1134Y|TPP2_ENST00000466153.1_3'UTR	p.H1147Y			P29144	TPP2_HUMAN			28	3455	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1134					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3439C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953180	0.53293	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.65	5.65	0.86999	.	0.109204	0.64402	D	0.000003	T	0.38295	0.1035	N	0.08118	0	0.44380	D	0.997288	B	0.24675	0.109	B	0.19666	0.026	T	0.23261	-1.0193	9	0.38643	T	0.18	.	14.8846	0.70557	0.1434:0.8566:0.0:0.0	.	1134	P29144	TPP2_HUMAN	Y	1134;1147	.	ENSP00000365220:H1147Y	H	+	1	0	TPP2	102124701	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.402000	0.52608	2.824000	0.97209	0.655000	0.94253	CAT		0.448	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			19	49	0	0	0	1	0	19	49				
PSMA8	143471	broad.mit.edu	37	18	23714010	23714010	+	Silent	SNP	G	G	T	rs570532077		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr18:23714010G>T	ENST00000308268.6	+	1	170	c.81G>T	c.(79-81)gcG>gcT	p.A27A	PSMA8_ENST00000343848.6_Silent_p.A27A|PSMA8_ENST00000415576.2_Silent_p.A27A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.A27A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGGAAGCGGTGAAGAAAG	0.557																																						ENST00000308268.6																			1	Substitution - coding silent(1)	p.A27A(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.(79-81)gcG>gcT		proteasome (prosome, macropain) subunit, alpha type, 8							97.0	89.0	92.0					18																	23714010		2203	4300	6503	SO:0001819	synonymous_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23714010G>T	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.81G>T	18.37:g.23714010G>T						PSMA8_ENST00000415576.2_Silent_p.A27A|PSMA8_ENST00000343848.6_Silent_p.A27A	p.A27A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		1	170	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		27					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Silent	SNP	ENST00000308268.6	37	c.81G>T	CCDS32808.1																																																																																				0.557	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		24	72	1	0	1.64293e-13	1	1.79696e-13	24	72				
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458619	90458619	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:90458619C>A	ENST00000603238.1	+	2	295	c.295C>A	c.(295-297)Cag>Aag	p.Q99K																								CCGCAGCCTGCAGCCTGAAGA	0.498																																						ENST00000603238.1																			0											c.(295-297)Cag>Aag																																						SO:0001583	missense	339562							g.chr2:90458619C>A																												ENST00000603238.1:c.295C>A	2.37:g.90458619C>A	ENSP00000474044:p.Gln99Lys						p.99_99insK							2	295	+									Missense_Mutation	SNP	ENST00000603238.1	37	c.295C>A																																																																																					0.498	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			34	1009	1	0	1.39806e-14	1	1.54522e-14	34	1009				
CHPF	79586	broad.mit.edu	37	2	220404670	220404670	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220404670T>A	ENST00000243776.6	-	4	2011	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	CHPF_ENST00000535926.1_Missense_Mutation_p.Q426L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	588					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGGCTGTCTGCACACTGAG	0.657																																						ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(1762-1764)cAg>cTg		chondroitin polymerizing factor							42.0	48.0	46.0					2																	220404670		2203	4299	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404670T>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1763A>T	2.37:g.220404670T>A	ENSP00000243776:p.Gln588Leu					CHPF_ENST00000535926.1_Missense_Mutation_p.Q426L	p.Q588L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2011	-		Renal(207;0.0183)	588					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1763A>T	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803352	0.70682	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16073	2.37;2.37	4.62	4.62	0.57501	.	0.068212	0.64402	D	0.000013	T	0.14184	0.0343	N	0.08118	0	0.54753	D	0.999983	P	0.38729	0.644	P	0.45538	0.484	T	0.19257	-1.0311	10	0.66056	D	0.02	-30.5726	14.4885	0.67634	0.0:0.0:0.0:1.0	.	588	Q8IZ52	CHSS2_HUMAN	L	588;426	ENSP00000243776:Q588L;ENSP00000445571:Q426L	ENSP00000243776:Q588L	Q	-	2	0	CHPF	220112914	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.868000	0.87116	2.072000	0.62099	0.459000	0.35465	CAG		0.657	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		22	84	0	0	0	1	0	22	84				
UNKL	64718	broad.mit.edu	37	16	1453187	1453187	+	Missense_Mutation	SNP	G	G	A	rs145589979		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:1453187G>A	ENST00000389221.4	-	3	445	c.446C>T	c.(445-447)cCg>cTg	p.P149L	UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.P149L|UNKL_ENST00000508903.2_Missense_Mutation_p.P149L|UNKL_ENST00000397462.1_Missense_Mutation_p.P236L	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	149					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				ACACACGGGCGGCCGCAGGTC	0.637																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(445-447)cCg>cTg		unkempt family zinc finger-like		G	LEU/PRO,LEU/PRO	0,4398		0,0,2199	116.0	80.0	92.0		446,446	3.8	0.9	16	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UNKL	NM_001037125.2,NM_001193388.1	98,98	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	149/278,149/681	1453187	2,12996	2199	4300	6499	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1453187G>A	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.446C>T	16.37:g.1453187G>A	ENSP00000373873:p.Pro149Leu					UNKL_ENST00000301712.5_Missense_Mutation_p.P149L|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.P149L|UNKL_ENST00000397462.1_Missense_Mutation_p.P236L	p.P149L	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			3	445	-		Hepatocellular(780;0.0893)	149					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.446C>T	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681879	0.68042	0.0	2.33E-4	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.64803	-0.12	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	L	0.50333	1.59	0.80722	D	1	B	0.28378	0.209	B	0.24541	0.054	T	0.49835	-0.8897	10	0.18276	T	0.48	.	13.5612	0.61790	0.0:0.0:1.0:0.0	.	149	Q9H9P5-5	.	L	149;149;236;149	ENSP00000373873:P149L	ENSP00000301712:P149L	P	-	2	0	UNKL	1393188	1.000000	0.71417	0.926000	0.36857	0.973000	0.67179	9.182000	0.94881	2.118000	0.64928	0.462000	0.41574	CCG		0.637	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		6	25	0	0	0	1	0	6	25				
SMG7	9887	broad.mit.edu	37	1	183498656	183498656	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:183498656A>C	ENST00000347615.2	+	8	950	c.831A>C	c.(829-831)gaA>gaC	p.E277D	SMG7_ENST00000507469.1_Missense_Mutation_p.E277D|SMG7_ENST00000456731.2_Missense_Mutation_p.E235D|SMG7_ENST00000508461.1_Missense_Mutation_p.E235D|SMG7_ENST00000515829.2_Missense_Mutation_p.E277D|SMG7_ENST00000367537.3_Missense_Mutation_p.E306D	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	277					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGAAATTGGAAGAACAGTTTA	0.383																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(916-918)gaA>gaC		SMG7 nonsense mediated mRNA decay factor							63.0	65.0	64.0					1																	183498656		2203	4298	6501	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183498656A>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.831A>C	1.37:g.183498656A>C	ENSP00000340766:p.Glu277Asp					SMG7_ENST00000456731.2_Missense_Mutation_p.E235D|SMG7_ENST00000507469.1_Missense_Mutation_p.E277D|SMG7_ENST00000515829.2_Missense_Mutation_p.E277D|SMG7_ENST00000347615.2_Missense_Mutation_p.E277D|SMG7_ENST00000508461.1_Missense_Mutation_p.E235D	p.E306D			Q92540	SMG7_HUMAN			9	1113	+			277					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.918A>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777330	0.49786	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.86	3.72	0.42706	.	0.214750	0.47455	D	0.000230	T	0.27832	0.0685	L	0.58101	1.795	0.49130	D	0.999754	D;D;D;P;D;D	0.60160	0.987;0.963;0.971;0.955;0.971;0.963	P;P;P;P;P;P	0.57468	0.801;0.751;0.722;0.636;0.821;0.751	T	0.01330	-1.1383	10	0.34782	T	0.22	-11.0011	8.6828	0.34218	0.843:0.0:0.157:0.0	.	235;306;235;277;277;277	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	D	235;306;235;235;277;277;277	ENSP00000407629:E235D;ENSP00000356507:E306D;ENSP00000426915:E235D;ENSP00000388390:E235D;ENSP00000340766:E277D;ENSP00000425133:E277D;ENSP00000421358:E277D	ENSP00000340766:E277D	E	+	3	2	SMG7	181765279	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.002000	0.40835	0.785000	0.33685	0.533000	0.62120	GAA		0.383	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		42	76	0	0	0	1	0	42	76				
CCDC185	164127	broad.mit.edu	37	1	223568370	223568370	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:223568370G>T	ENST00000366875.3	+	1	1656	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		518										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGACAGGCCAGGAGTCACGTG	0.577																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1552-1554)aGg>aTg		chromosome 1 open reading frame 65							97.0	108.0	104.0					1																	223568370		2202	4300	6502	SO:0001583	missense	164127							g.chr1:223568370G>T																												ENST00000366875.3:c.1553G>T	1.37:g.223568370G>T	ENSP00000355840:p.Arg518Met						p.R518M	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1656	+			518					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1553G>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578848	0.28180	.	.	ENSG00000178395	ENST00000366875	T	0.25085	1.82	5.7	2.65	0.31530	.	.	.	.	.	T	0.22322	0.0538	L	0.59436	1.845	0.09310	N	1	P	0.48294	0.908	B	0.41691	0.364	T	0.28744	-1.0034	9	0.66056	D	0.02	.	2.2598	0.04064	0.1645:0.1543:0.5213:0.1598	.	518	Q8N715	CA065_HUMAN	M	518	ENSP00000355840:R518M	ENSP00000355840:R518M	R	+	2	0	C1orf65	221634993	0.000000	0.05858	0.009000	0.14445	0.212000	0.24457	0.081000	0.14823	0.753000	0.32945	0.655000	0.94253	AGG		0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			6	156	1	0	0.00116845	1	0.00117968	6	156				
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:7577609C>G	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAGAGCCAACCTAGGAGATAA	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(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	CS011061	TP53	S		c.e7-1	Other conserved DNA damage response genes	tumor protein p53							89.0	75.0	80.0					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7577609C>G	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.673-1G>C	17.37:g.7577609C>G		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_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site		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	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685397	0.68157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	48	42	0	0	0	1	0	48	42				
PRRC2C	23215	broad.mit.edu	37	1	171514775	171514775	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:171514775C>A	ENST00000338920.4	+	17	5152	c.4915C>A	c.(4915-4917)Cca>Aca	p.P1639T	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1641T|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P1641T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1639T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1639					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCCTAAAAAACCAAAAGAGAA	0.343																																						ENST00000367742.3																			0											c.(4921-4923)Cca>Aca		proline-rich coiled-coil 2C							64.0	65.0	65.0					1																	171514775		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171514775C>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4915C>A	1.37:g.171514775C>A	ENSP00000343629:p.Pro1639Thr					PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1639T|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P1639T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1641T	p.P1641T			Q9Y520	PRC2C_HUMAN			17	5163	+			1639					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.4921C>A	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.557781|2.557781	0.45590|0.45590	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.01887	.|4.58;4.58;4.58;4.58	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.43579	.|D	.|0.000544	T|T	0.07728|0.07728	0.0194|0.0194	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.11567|0.11567	-1.0582|-1.0582	5|10	.|0.72032	.|D	.|0.01	.|.	19.1728|19.1728	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1639	.|Q9Y520-4	.|.	K|T	186|1641;1640;1639;1641;1639;1396	.|ENSP00000375928:P1641T;ENSP00000410219:P1639T;ENSP00000356716:P1641T;ENSP00000343629:P1639T	.|ENSP00000343629:P1639T	N|P	+|+	3|1	2|0	PRRC2C|PRRC2C	169781399|169781399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	5.764000|5.764000	0.68826|0.68826	2.533000|2.533000	0.85409|0.85409	0.552000|0.552000	0.68991|0.68991	AAC|CCA		0.343	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	26	1	0	8.12818e-05	1	8.28601e-05	5	26				
TMEM198	130612	broad.mit.edu	37	2	220412513	220412513	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:220412513G>T	ENST00000344458.2	+	4	1037	c.452G>T	c.(451-453)gGg>gTg	p.G151V	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.G151V|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	151	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCCACTGGGGCTGTTGCTG	0.711																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(451-453)gGg>gTg		transmembrane protein 198							15.0	18.0	17.0					2																	220412513		2179	4267	6446	SO:0001583	missense	130612					integral to membrane		g.chr2:220412513G>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.452G>T	2.37:g.220412513G>T	ENSP00000343507:p.Gly151Val					TMEM198_ENST00000373883.3_Missense_Mutation_p.G151V	p.G151V			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1037	+		Renal(207;0.0376)	151			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.452G>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702190	0.68501	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.106390	0.64402	D	0.000005	T	0.73636	0.3612	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.70579	-0.4833	9	0.15499	T	0.54	-19.8542	13.3569	0.60633	0.0:0.1597:0.8403:0.0	.	151	Q66K66	TM198_HUMAN	V	151	.	ENSP00000343507:G151V	G	+	2	0	TMEM198	220120757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.370000	0.79589	2.253000	0.74438	0.591000	0.81541	GGG		0.711	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		5	29	1	0	1	1	1	5	29				
PDE4DIP	9659	broad.mit.edu	37	1	144881472	144881472	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:144881472A>C	ENST00000369354.3	-	25	3913	c.3724T>G	c.(3724-3726)Ttt>Gtt	p.F1242V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.F1379V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.F1198V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.F1379V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1242					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTGAGCAAAGACAGTGGCT	0.453			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4135-4137)Ttt>Gtt		phosphodiesterase 4D interacting protein							188.0	179.0	182.0					1																	144881472		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144881472A>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3724T>G	1.37:g.144881472A>C	ENSP00000358360:p.Phe1242Val					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.F1379V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.F1242V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.F1198V	p.F1379V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	28	4173	-			1242					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4135T>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.441|7.441	0.640659|0.640659	0.14386|0.14386	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530592	T;T;T;T;T|.	0.01560|.	4.77;4.91;4.91;4.9;4.91|.	6.06|6.06	2.4|2.4	0.29515|0.29515	.|.	.|.	.|.	.|.	.|.	T|T	0.31575|0.31575	0.0801|0.0801	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.18013|.	0.001;0.025|.	B;B|.	0.17979|.	0.001;0.02|.	T|T	0.19289|0.19289	-1.0310|-1.0310	9|5	0.15952|.	T|.	0.53|.	.|.	3.2715|3.2715	0.06883|0.06883	0.5001:0.2094:0.2905:0.0|0.5001:0.2094:0.2905:0.0	.|.	1198;1242|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	V|R	1198;1242;1242;1379;1379|136	ENSP00000327209:F1198V;ENSP00000358360:F1242V;ENSP00000358363:F1242V;ENSP00000435654:F1379V;ENSP00000358366:F1379V|.	ENSP00000327209:F1198V|.	F|L	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143592829|143592829	1.000000|1.000000	0.71417|0.71417	0.436000|0.436000	0.26797|0.26797	0.287000|0.287000	0.27160|0.27160	3.750000|3.750000	0.55157|0.55157	0.508000|0.508000	0.28173|0.28173	-0.274000|-0.274000	0.10170|0.10170	TTT|CTT		0.453	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		73	484	0	0	0	1	0	73	484				
IGHG1	3500	broad.mit.edu	37	14	106208352	106208352	+	RNA	SNP	T	T	A	rs587601568	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:106208352T>A	ENST00000390548.2	-	0	547							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GACCACACGGTACGTGCTGTT	0.587													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19743	0.0		0.001	False		,,,				2504	0.0					ENST00000390548.2																			0																				231.0	218.0	223.0					14																	106208352		2192	4281	6473			3500							g.chr14:106208352T>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208352T>A														0	547	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.587	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		101	594	0	0	0	1	0	101	594				
FOXL2NB	401089	broad.mit.edu	37	3	138668424	138668424	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:138668424G>C	ENST00000383165.3	+	2	294	c.163G>C	c.(163-165)Ggt>Cgt	p.G55R	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		55										large_intestine(1)|lung(3)	4						GGCTGGAATCGGTCTCCCCAA	0.527																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(163-165)Ggt>Cgt		chromosome 3 open reading frame 72							76.0	81.0	79.0					3																	138668424		1950	4152	6102	SO:0001583	missense	401089							g.chr3:138668424G>C																												ENST00000383165.3:c.163G>C	3.37:g.138668424G>C	ENSP00000372651:p.Gly55Arg						p.G55R	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			2	294	+			55					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.163G>C	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	4.496	0.091970	0.08632	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.21	-4.41	0.03590	.	.	.	.	.	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.17806	-1.0357	8	0.87932	D	0	.	0.2395	0.00190	0.235:0.1692:0.2611:0.3346	.	55	Q6ZUU3	CC072_HUMAN	R	55	.	ENSP00000372651:G55R	G	+	1	0	C3orf72	140151114	0.001000	0.12720	0.000000	0.03702	0.277000	0.26821	-0.159000	0.10056	-1.761000	0.01310	-0.351000	0.07748	GGT		0.527	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			18	64	0	0	0	1	0	18	64				
DHX38	9785	broad.mit.edu	37	16	72139420	72139420	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:72139420C>T	ENST00000268482.3	+	18	2893	c.2384C>T	c.(2383-2385)cCa>cTa	p.P795L	DHX38_ENST00000536867.1_Missense_Mutation_p.P107L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	795	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCTAGGCTCCAGATGGCGTT	0.522																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2383-2385)cCa>cTa		DEAH (Asp-Glu-Ala-His) box polypeptide 38							107.0	90.0	96.0					16																	72139420		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72139420C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2384C>T	16.37:g.72139420C>T	ENSP00000268482:p.Pro795Leu					DHX38_ENST00000536867.1_Missense_Mutation_p.P107L	p.P795L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			18	2893	+		Ovarian(137;0.125)	795			Helicase C-terminal.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2384C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183763	0.94885	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.03272	3.99;3.99	5.8	5.8	0.92144	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.78637	2.42	0.80722	D	1	P;P	0.43352	0.687;0.804	P;P	0.47346	0.544;0.544	T	0.00061	-1.2161	10	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	107;795	B4DVG8;Q92620	.;PRP16_HUMAN	L	795;107	ENSP00000268482:P795L;ENSP00000437898:P107L	ENSP00000268482:P795L	P	+	2	0	DHX38	70696921	1.000000	0.71417	0.939000	0.37840	0.400000	0.30750	7.783000	0.85696	2.735000	0.93741	0.655000	0.94253	CCA		0.522	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		41	113	0	0	0	1	0	41	113				
CENPL	91687	broad.mit.edu	37	1	173772306	173772306	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:173772306G>C	ENST00000345664.6	-	4	971	c.758C>G	c.(757-759)tCt>tGt	p.S253C	CENPL_ENST00000367710.3_Missense_Mutation_p.S253C|CENPL_ENST00000356198.2_Missense_Mutation_p.S299C	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	253					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TATTGCGAAAGAAATGTCCAG	0.468																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(895-897)tCt>tGt		centromere protein L							98.0	99.0	99.0					1																	173772306		2203	4300	6503	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173772306G>C	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.758C>G	1.37:g.173772306G>C	ENSP00000323543:p.Ser253Cys					CENPL_ENST00000345664.6_Missense_Mutation_p.S253C|CENPL_ENST00000367710.3_Missense_Mutation_p.S253C	p.S299C	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			6	1181	-			253					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.896C>G	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774025	0.69992	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.50001	1.37;0.76;0.76	5.24	5.24	0.73138	.	0.161011	0.50627	D	0.000115	T	0.60157	0.2247	L	0.60455	1.87	0.41284	D	0.98693	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.979	T	0.63699	-0.6578	10	0.72032	D	0.01	-10.6098	17.633	0.88114	0.0:0.0:1.0:0.0	.	299;253	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	C	299;253;253	ENSP00000348527:S299C;ENSP00000323543:S253C;ENSP00000356683:S253C	ENSP00000323543:S253C	S	-	2	0	CENPL	172038929	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	TCT		0.468	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		23	100	0	0	0	1	0	23	100				
PLXND1	23129	broad.mit.edu	37	3	129292448	129292448	+	Silent	SNP	C	C	T	rs141704122		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:129292448C>T	ENST00000324093.4	-	13	3004	c.2826G>A	c.(2824-2826)acG>acA	p.T942T	PLXND1_ENST00000393239.1_Silent_p.T942T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	942	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCCGACACCGTGTATCTGT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17881	0.0		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2824-2826)acG>acA		plexin D1		C		0,4406		0,0,2203	71.0	62.0	65.0		2826	-9.6	0.2	3	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXND1	NM_015103.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		942/1926	129292448	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129292448C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2826G>A	3.37:g.129292448C>T						PLXND1_ENST00000324093.4_Silent_p.T942T	p.T942T			Q9Y4D7	PLXD1_HUMAN			13	3004	-			942			IPT/TIG 1.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2826G>A	CCDS33854.1																																																																																				0.642	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	71	0	0	0	1	0	5	71				
WWOX	51741	broad.mit.edu	37	16	79245629	79245629	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:79245629C>A	ENST00000566780.1	+	9	1547	c.1181C>A	c.(1180-1182)gCc>gAc	p.A394D	WWOX_ENST00000539474.2_Missense_Mutation_p.P204T|WWOX_ENST00000402655.2_Silent_p.G178G|RP11-679B19.2_ENST00000569677.1_lincRNA|WWOX_ENST00000406884.2_Missense_Mutation_p.A214D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	394	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GAAGAGACGGCCCGGACCCTG	0.627																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1180-1182)gCc>gAc		WW domain containing oxidoreductase							52.0	56.0	55.0					16																	79245629		2002	4168	6170	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:79245629C>A	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1181C>A	16.37:g.79245629C>A	ENSP00000457230:p.Ala394Asp					WWOX_ENST00000539474.2_Missense_Mutation_p.P204T|WWOX_ENST00000402655.2_Silent_p.G178G|WWOX_ENST00000406884.2_Missense_Mutation_p.A214D	p.A394D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	9	1547	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	394			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1181C>A	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.028175|4.028175	0.75390|0.75390	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000408984;ENST00000406884|ENST00000539474	T|T	0.67345|0.39592	-0.26|1.07	5.67|5.67	5.67|5.67	0.87782|0.87782	NAD(P)-binding domain (1);|.	542.205000|.	0.00166|.	N|.	0.000000|.	T|T	0.80071|0.80071	0.4556|0.4556	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.997;0.919|.	D|D	0.87671|0.87671	0.2541|0.2541	10|7	0.54805|0.87932	T|D	0.06|0	.|.	19.7785|19.7785	0.96405|0.96405	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	214;394|.	Q9NZC7-5;Q9NZC7|.	.;WWOX_HUMAN|.	D|T	394;214|204	ENSP00000384495:A214D|ENSP00000445210:P204T	ENSP00000384495:A214D|ENSP00000445210:P204T	A|P	+|+	2|1	0|0	WWOX|WWOX	77803130|77803130	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.667000|0.667000	0.39255|0.39255	7.208000|7.208000	0.77907|0.77907	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GCC|CCC		0.627	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			20	71	1	0	1.22574e-08	1	1.32683e-08	20	71				
CFAP69	79846	broad.mit.edu	37	7	89939466	89939466	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:89939466A>T	ENST00000389297.4	+	23	2991	c.2740A>T	c.(2740-2742)Aaa>Taa	p.K914*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.K896*|AC002064.5_ENST00000445784.1_lincRNA|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.K868*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		914										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TATTGCTCTTAAAAAACTGCC	0.448																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2740-2742)Aaa>Taa		chromosome 7 open reading frame 63							111.0	104.0	106.0					7																	89939466		1888	4104	5992	SO:0001587	stop_gained	79846						binding	g.chr7:89939466A>T																												ENST00000389297.4:c.2740A>T	7.37:g.89939466A>T	ENSP00000373948:p.Lys914*					C7orf63_ENST00000497910.1_Nonsense_Mutation_p.K896*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.K868*	p.K914*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			23	2991	+			914					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	c.2740A>T	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.859946|5.859946	0.97036|0.97036	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839;ENST00000445156	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.067822|.	0.64402|.	D|.	0.000011|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-19.1764|-19.1764	16.2127|16.2127	0.82178|0.82178	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	914;868;896;451|142;65	.|.	ENSP00000321753:K868X|.	K|X	+|+	1|2	0|2	C7orf63|C7orf63	89777402|89777402	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.953000|2.953000	0.49105|0.49105	2.236000|2.236000	0.73375|0.73375	0.533000|0.533000	0.62120|0.62120	AAA|TAA		0.448	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			26	91	0	0	0	1	0	26	91				
CEP170B	283638	broad.mit.edu	37	14	105359984	105359984	+	Missense_Mutation	SNP	G	G	T	rs571111410		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:105359984G>T	ENST00000414716.3	+	15	4391	c.4163G>T	c.(4162-4164)cGg>cTg	p.R1388L	CEP170B_ENST00000453495.1_Missense_Mutation_p.R1424L|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1353L|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1318L	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1423						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AACAAGACGCGGCCTCGGAAC	0.677																																						ENST00000453495.1																			0											c.(4270-4272)cGg>cTg		centrosomal protein 170B							14.0	18.0	17.0					14																	105359984		2092	4195	6287	SO:0001583	missense	283638							g.chr14:105359984G>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4163G>T	14.37:g.105359984G>T	ENSP00000404151:p.Arg1388Leu					CEP170B_ENST00000414716.3_Missense_Mutation_p.R1388L|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1318L|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1353L	p.R1424L							15	4499	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4271G>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117082	0.37339	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.55760	0.52;0.53;0.5;0.59	3.69	2.74	0.32292	.	0.460281	0.19531	N	0.112028	T	0.68081	0.2962	M	0.76002	2.32	0.19575	N	0.999968	D;D;D	0.71674	0.998;0.994;0.996	D;P;D	0.79108	0.95;0.908;0.992	T	0.57248	-0.7844	10	0.87932	D	0	-25.0831	8.9516	0.35792	0.1133:0.0:0.8866:0.0	.	1388;1423;1318	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	L	1353;1388;1424;1318;56	ENSP00000451249:R1353L;ENSP00000404151:R1388L;ENSP00000407238:R1424L;ENSP00000415006:R1318L	ENSP00000251181:R40L	R	+	2	0	KIAA0284	104431029	0.958000	0.32768	0.595000	0.28798	0.164000	0.22412	3.211000	0.51137	0.840000	0.34995	0.436000	0.28706	CGG		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		9	20	1	0	7.48243e-07	1	7.77876e-07	9	20				
SUPT20H	55578	broad.mit.edu	37	13	37614572	37614572	+	Silent	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr13:37614572T>G	ENST00000350612.6	-	9	757	c.537A>C	c.(535-537)tcA>tcC	p.S179S	SUPT20H_ENST00000475892.1_Silent_p.S179S|SUPT20H_ENST00000542180.1_Silent_p.S167S|SUPT20H_ENST00000464744.1_Silent_p.S180S|SUPT20H_ENST00000360252.4_Silent_p.S180S|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Silent_p.S180S	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	179					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CACTTGTTATTGAATGTACAT	0.254																																						ENST00000360252.4																			0											c.(538-540)tcA>tcC		suppressor of Ty 20 homolog (S. cerevisiae)							37.0	42.0	40.0					13																	37614572		2197	4290	6487	SO:0001819	synonymous_variant	55578							g.chr13:37614572T>G	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.537A>C	13.37:g.37614572T>G						SUPT20H_ENST00000475892.1_Silent_p.S179S|SUPT20H_ENST00000542180.1_Silent_p.S167S|SUPT20H_ENST00000356185.3_Silent_p.S180S|SUPT20H_ENST00000350612.6_Silent_p.S179S|SUPT20H_ENST00000464744.1_Silent_p.S180S|SUPT20H_ENST00000470359.2_5'UTR	p.S180S	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					9	787	-								E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.540A>C	CCDS31959.1																																																																																				0.254	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		14	23	0	0	0	1	0	14	23				
PRDM8	56978	broad.mit.edu	37	4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr4:81123252G>C	ENST00000504452.1	+	8	1475	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q212H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)caG>caC		PR domain containing 8							21.0	27.0	25.0					4																	81123252		2021	4184	6205	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123252G>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.636G>C	4.37:g.81123252G>C	ENSP00000423985:p.Gln212His		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H	p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1867	+			212			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.636G>C	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103514	0.06967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.4;-0.18;-0.18	4.62	-4.47	0.03525	.	5.058670	0.00559	N	0.000261	T	0.46132	0.1377	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.29301	T	0.29	.	8.4825	0.33052	0.2299:0.4579:0.3122:0.0	.	212	Q9NQV8	PRDM8_HUMAN	H	212	ENSP00000423985:Q212H;ENSP00000425149:Q212H;ENSP00000339764:Q212H;ENSP00000406998:Q212H	ENSP00000339764:Q212H	Q	+	3	2	PRDM8	81342276	0.732000	0.28121	0.000000	0.03702	0.003000	0.03518	-1.260000	0.02858	-1.567000	0.01671	-2.229000	0.00292	CAG		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	63	0	0	0	1	0	5	63				
ZEB1	6935	broad.mit.edu	37	10	31815883	31815883	+	Silent	SNP	G	G	C	rs146803682		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:31815883G>C	ENST00000320985.10	+	9	3176	c.3066G>C	c.(3064-3066)tcG>tcC	p.S1022S	ZEB1_ENST00000446923.2_Silent_p.S1006S|ZEB1_ENST00000361642.5_Silent_p.S1023S|ZEB1_ENST00000560721.2_Silent_p.S1002S|ZEB1_ENST00000542815.3_Silent_p.S955S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1022	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGGGCGACTCGGACGAGAGAG	0.517																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(3016-3018)tcG>tcC		zinc finger E-box binding homeobox 1							65.0	62.0	63.0					10																	31815883		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815883G>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3066G>C	10.37:g.31815883G>C						ZEB1_ENST00000542815.3_Silent_p.S955S|ZEB1_ENST00000361642.5_Silent_p.S1023S|ZEB1_ENST00000320985.10_Silent_p.S1022S|ZEB1_ENST00000560721.2_Silent_p.S1002S	p.S1006S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3409	+		Prostate(175;0.0156)	1022			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.3018G>C	CCDS7169.1																																																																																				0.517	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		4	21	0	0	0	1	0	4	21				
SLC25A6	293	broad.mit.edu	37	X	1505588	1505588	+	Silent	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:1505588C>T	ENST00000381401.5	-	4	1518	c.804G>A	c.(802-804)aaG>aaA	p.K268K	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	268					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)			Clodronate(DB00720)	TGAAGAAGGCCTTGCCCCCCT	0.622																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(802-804)aaG>aaA		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						337.0	288.0	305.0					X																	1505588		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505588C>T	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.804G>A	X.37:g.1505588C>T							p.K268K	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			4	1518	-		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)	268					Q96C49	Silent	SNP	ENST00000381401.5	37	c.804G>A	CCDS14114.1																																																																																				0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		48	168	0	0	0	1	0	48	168				
MTMR14	64419	broad.mit.edu	37	3	9739527	9739527	+	Silent	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:9739527G>A	ENST00000296003.4	+	18	1868	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	582					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCAGCTTCCCGGATGAGCTCC	0.562																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1744-1746)ccG>ccA		myotubularin related protein 14							212.0	221.0	218.0					3																	9739527		2053	4199	6252	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9739527G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1746G>A	3.37:g.9739527G>A						MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron	p.P582P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			18	1868	+	Medulloblastoma(99;0.227)		582					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.1746G>A	CCDS43043.1																																																																																				0.562	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		5	309	0	0	0	1	0	5	309				
PIGQ	9091	broad.mit.edu	37	16	628842	628842	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:628842C>T	ENST00000026218.5	+	6	1215	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.S376L|PIGQ_ENST00000321878.5_Missense_Mutation_p.S376L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	376	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|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)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.S376L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGGGCCTCTCGGCCTGCCTG	0.632																																						ENST00000321878.5																			1	Substitution - Missense(1)	p.S376L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1126-1128)tCg>tTg		phosphatidylinositol glycan anchor biosynthesis, class Q							148.0	132.0	137.0					16																	628842		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:628842C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1127C>T	16.37:g.628842C>T	ENSP00000026218:p.Ser376Leu					PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Missense_Mutation_p.S376L|PIGQ_ENST00000409527.2_Missense_Mutation_p.S376L	p.S376L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			6	1286	+		Hepatocellular(780;0.00335)	376			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1127C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666715	0.96745	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.49432	0.78;0.78;2.09	5.25	5.25	0.73442	.	0.065967	0.64402	D	0.000005	T	0.51432	0.1674	L	0.35793	1.09	0.80722	D	1	D;D;D	0.54964	0.968;0.966;0.969	P;P;P	0.52309	0.695;0.644;0.623	T	0.49707	-0.8911	10	0.44086	T	0.13	-15.086	17.8298	0.88677	0.0:1.0:0.0:0.0	.	390;376;376	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	L	376	ENSP00000386760:S376L;ENSP00000326674:S376L;ENSP00000026218:S376L	ENSP00000026218:S376L	S	+	2	0	PIGQ	568843	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	7.769000	0.85360	2.474000	0.83562	0.591000	0.81541	TCG		0.632	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		40	108	0	0	0	1	0	40	108				
MFSD1	64747	broad.mit.edu	37	3	158520096	158520096	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:158520096T>C	ENST00000264266.8	+	1	217	c.155T>C	c.(154-156)cTt>cCt	p.L52P	MFSD1_ENST00000392813.4_Missense_Mutation_p.L101P|MFSD1_ENST00000415822.2_Missense_Mutation_p.L101P|RP11-379F4.9_ENST00000607044.1_RNA			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	52					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTGCTTCCTTGGCTTTGGT	0.642																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(301-303)cTt>cCt		major facilitator superfamily domain containing 1							33.0	35.0	34.0					3																	158520096		2201	4300	6501	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158520096T>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.155T>C	3.37:g.158520096T>C	ENSP00000264266:p.Leu52Pro					MFSD1_ENST00000392813.4_Missense_Mutation_p.L101P|MFSD1_ENST00000264266.8_Missense_Mutation_p.L52P	p.L101P	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		1	443	+			52					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.302T>C		.	.	.	.	.	.	.	.	.	.	T	28.4	4.920945	0.92249	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.59906	0.23;0.32;0.23	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84563	0.0651	10	0.62326	D	0.03	.	13.7663	0.62997	0.0:0.0:0.0:1.0	.	101;52	C9JS94;Q9H3U5	.;MFSD1_HUMAN	P	101;101;52;52	ENSP00000403117:L101P;ENSP00000376560:L101P;ENSP00000264266:L52P	ENSP00000264266:L52P	L	+	2	0	MFSD1	160002790	1.000000	0.71417	0.847000	0.33407	0.978000	0.69477	6.606000	0.74159	1.894000	0.54839	0.460000	0.39030	CTT		0.642	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		4	49	0	0	0	1	0	4	49				
RFPL1	5988	broad.mit.edu	37	22	29833673	29833673	+	5'Flank	SNP	C	C	T	rs537165751		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:29833673C>T	ENST00000354373.2	+	0	0				RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AAGACCTGAGCGCCCAGTGGA	0.562													-|||	1	0.000199681	0.0	0.0	5008	,	,		16018	0.0		0.0	False		,,,				2504	0.001					ENST00000461286.2																			0																																																	SO:0001631	upstream_gene_variant	10740							g.chr22:29833673C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516		22.37:g.29833673C>T	Exception_encountered							NR_002727.2						0	4703	-								Q6IC06|Q9UJ97	RNA	SNP	ENST00000354373.2	37		CCDS13857.2																																																																																				0.562	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		6	23	0	0	0	1	0	6	23				
TXNDC11	51061	broad.mit.edu	37	16	11794371	11794371	+	Silent	SNP	C	C	T	rs373925712		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:11794371C>T	ENST00000356957.3	-	7	1031	c.924G>A	c.(922-924)gcG>gcA	p.A308A	TXNDC11_ENST00000283033.5_Silent_p.A281A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	308					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATACCAGTTTCGCAAGATGTT	0.348																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(922-924)gcG>gcA		thioredoxin domain containing 11		C		0,4394		0,0,2197	164.0	155.0	158.0		843	2.4	1.0	16		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TXNDC11	NM_015914.5		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		281/959	11794371	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11794371C>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.924G>A	16.37:g.11794371C>T						TXNDC11_ENST00000283033.5_Silent_p.A281A	p.A308A			Q6PKC3	TXD11_HUMAN			7	1031	-			308					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.924G>A																																																																																					0.348	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		31	81	0	0	0	1	0	31	81				
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1507-1509)gCg>gTg									55.0	56.0	56.0					5																	140188280		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140188280C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1508C>T	5.37:g.140188280C>T	ENSP00000435300:p.Ala503Val					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron	p.A503V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1508C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		25	80	0	0	0	1	0	25	80				
PLA2G7	7941	broad.mit.edu	37	6	46690552	46690552	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:46690552T>C	ENST00000274793.7	-	2	273	c.77A>G	c.(76-78)tAc>tGc	p.Y26C	PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.Y26C|PLA2G7_ENST00000538237.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	26					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGGATTTATGTATTGCCAGTC	0.478																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(76-78)tAc>tGc		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							100.0	89.0	93.0					6																	46690552		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46690552T>C	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.77A>G	6.37:g.46690552T>C	ENSP00000274793:p.Tyr26Cys					PLA2G7_ENST00000538237.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.Y26C|PLA2G7_ENST00000541026.1_Intron	p.Y26C	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		2	273	-			26					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.77A>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658746	0.47467	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.43688	0.94;0.94	6.07	4.92	0.64577	.	0.418889	0.25916	N	0.027475	T	0.11750	0.0286	N	0.08118	0	0.80722	D	1	P;P	0.37525	0.598;0.598	B;B	0.37780	0.258;0.258	T	0.04635	-1.0937	10	0.39692	T	0.17	.	8.1558	0.31167	0.0:0.0868:0.0:0.9132	.	26;26	A8K2W6;Q13093	.;PAFA_HUMAN	C	26	ENSP00000274793:Y26C;ENSP00000445666:Y26C	ENSP00000274793:Y26C	Y	-	2	0	PLA2G7	46798511	0.386000	0.25180	0.849000	0.33467	0.902000	0.53008	0.889000	0.28282	2.326000	0.78906	0.533000	0.62120	TAC		0.478	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			8	36	0	0	0	1	0	8	36				
PCDHB4	56131	broad.mit.edu	37	5	140503665	140503665	+	Silent	SNP	G	G	A	rs147086302	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr5:140503665G>A	ENST00000194152.1	+	1	2085	c.2085G>A	c.(2083-2085)tcG>tcA	p.S695S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	695					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.701																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(2083-2085)tcG>tcA									68.0	78.0	75.0					5																	140503665		2188	4263	6451	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503665G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2085G>A	5.37:g.140503665G>A							p.S695S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2085	+			695					Q4V761	Silent	SNP	ENST00000194152.1	37	c.2085G>A	CCDS4246.1																																																																																				0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		62	219	0	0	0	1	0	62	219				
ZNF230	7773	broad.mit.edu	37	19	44513009	44513009	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:44513009C>T	ENST00000429154.2	+	3	311	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ZNF230_ENST00000585632.1_Missense_Mutation_p.A28V	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTGGACCCTGCCCAGAGGAAG	0.517																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(82-84)gCc>gTc		zinc finger protein 230							221.0	193.0	203.0					19																	44513009		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44513009C>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.83C>T	19.37:g.44513009C>T	ENSP00000409318:p.Ala28Val					ZNF230_ENST00000585632.1_Missense_Mutation_p.A28V	p.A28V	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			3	311	+		Prostate(69;0.0352)	28			KRAB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.83C>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722867	0.48728	.	.	ENSG00000159882	ENST00000429154	T	0.02498	4.27	2.41	1.31	0.21738	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.64676	1.99	0.23238	N	0.998064	D	0.59357	0.985	D	0.65010	0.931	T	0.15435	-1.0437	9	0.54805	T	0.06	.	7.0176	0.24897	0.0:0.8454:0.0:0.1546	.	28	Q9UIE0	ZN230_HUMAN	V	28	ENSP00000409318:A28V	ENSP00000409318:A28V	A	+	2	0	ZNF230	49204849	0.000000	0.05858	0.736000	0.30914	0.630000	0.37929	-0.404000	0.07205	0.335000	0.23614	0.405000	0.27470	GCC		0.517	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			5	266	0	0	0	1	0	5	266				
CEP290	80184	broad.mit.edu	37	12	88530464	88530464	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr12:88530464C>T	ENST00000552810.1	-	6	740	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CEP290_ENST00000309041.7_Missense_Mutation_p.D133N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	133					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCCATGTCCTCCAATTCT	0.368																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(397-399)Gac>Aac		centrosomal protein 290kDa							176.0	172.0	173.0					12																	88530464		1825	4085	5910	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88530464C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.397G>A	12.37:g.88530464C>T	ENSP00000448012:p.Asp133Asn					CEP290_ENST00000309041.7_Missense_Mutation_p.D133N	p.D133N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			6	740	-			133					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.397G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765409	0.69878	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139;ENST00000550962;ENST00000552770	T;T;D	0.86627	-0.15;-0.15;-2.15	5.23	5.23	0.72850	.	0.204013	0.40640	N	0.001041	D	0.83571	0.5283	N	0.24115	0.695	0.80722	D	1	P	0.38827	0.649	P	0.45538	0.484	T	0.80336	-0.1425	10	0.16896	T	0.51	.	18.7852	0.91952	0.0:1.0:0.0:0.0	.	133	O15078	CE290_HUMAN	N	133;133;133;35;133;75	ENSP00000448012:D133N;ENSP00000308021:D133N;ENSP00000447623:D133N	ENSP00000308021:D133N	D	-	1	0	CEP290	87054595	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	4.895000	0.63214	2.421000	0.82119	0.557000	0.71058	GAC		0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		26	106	0	0	0	1	0	26	106				
EXOSC5	56915	broad.mit.edu	37	19	41895669	41895669	+	Splice_Site	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:41895669C>A	ENST00000221233.4	-	4	676		c.e4+1		CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Splice_Site|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5						defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TTCACACCTACCTTTTCTTGC	0.617																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.e4+1		exosome component 5							126.0	125.0	125.0					19																	41895669		2203	4300	6503	SO:0001630	splice_region_variant	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895669C>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.525+1G>T	19.37:g.41895669C>A						EXOSC5_ENST00000596905.1_Splice_Site|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron		NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			4	676	-								Q32Q81|Q8NG16|Q96I89	Splice_Site	SNP	ENST00000221233.4	37		CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457200	0.43634	.	.	ENSG00000077348	ENST00000221233	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4465	0.87579	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOSC5	46587509	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	6.285000	0.72658	2.727000	0.93392	0.585000	0.79938	.		0.617	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158	Intron	46	149	1	0	2.13384e-23	1	2.43536e-23	46	149				
IFNAR2	3455	broad.mit.edu	37	21	34634903	34634903	+	Intron	SNP	T	T	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr21:34634903T>C	ENST00000342136.4	+	9	1166				IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.I293T|IFNAR2_ENST00000404220.3_Missense_Mutation_p.I293T			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	gcagtggctattcacaggtgc	0.443																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(877-879)aTt>aCt		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						5.0	6.0	6.0					21																	34634903		1134	2201	3335	SO:0001627	intron_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34634903T>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.841-195T>C	21.37:g.34634903T>C						IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.I293T|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron	p.I293T			P48551	INAR2_HUMAN			9	1207	+			0					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.878T>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	T	8.410	0.844037	0.16963	.	.	ENSG00000159110	ENST00000382264;ENST00000404220	T;T	0.26518	1.73;1.73	0.565	0.565	0.17309	.	.	.	.	.	T	0.10895	0.0266	N	0.08118	0	0.19775	N	0.999955	B	0.30889	0.299	B	0.19946	0.027	T	0.20874	-1.0262	8	0.66056	D	0.02	.	.	.	.	.	293	P48551-2	.	T	293	ENSP00000371699:I293T;ENSP00000384309:I293T	ENSP00000371699:I293T	I	+	2	0	IFNAR2	33556773	0.104000	0.21937	0.236000	0.24074	0.307000	0.27823	0.652000	0.24888	0.470000	0.27294	0.460000	0.39030	ATT		0.443	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			7	22	0	0	0	1	0	7	22				
CDYL2	124359	broad.mit.edu	37	16	80646698	80646698	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:80646698G>C	ENST00000570137.2	-	5	1198	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	CDYL2_ENST00000563890.1_Missense_Mutation_p.P349R|CDYL2_ENST00000562812.1_Missense_Mutation_p.P349R|CDYL2_ENST00000566173.1_Missense_Mutation_p.P349R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	348						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CACCACGATAGGCTTCTTAAA	0.562																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1042-1044)cCt>cGt		chromodomain protein, Y-like 2							66.0	64.0	65.0					16																	80646698		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80646698G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1043C>G	16.37:g.80646698G>C	ENSP00000476295:p.Pro348Arg					CDYL2_ENST00000566173.1_Missense_Mutation_p.P349R|CDYL2_ENST00000563890.1_Missense_Mutation_p.P349R|CDYL2_ENST00000562812.1_Missense_Mutation_p.P349R	p.P348R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			5	1198	-			348					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1043C>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648201	0.87958	.	.	ENSG00000166446	ENST00000299564	T	0.74632	-0.86	5.02	5.02	0.67125	Crotonase, core (1);	0.125415	0.56097	D	0.000039	D	0.89491	0.6730	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91895	0.5527	10	0.87932	D	0	.	17.4948	0.87714	0.0:0.0:1.0:0.0	.	348	Q8N8U2	CDYL2_HUMAN	R	348	ENSP00000299564:P348R	ENSP00000299564:P348R	P	-	2	0	CDYL2	79204199	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.597000	0.87782	0.650000	0.86243	CCT		0.562	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		10	70	0	0	0	1	0	10	70				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	9	0	0	0	1	0	4	9				
NDUFB2	4708	broad.mit.edu	37	7	140404687	140404687	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:140404687C>G	ENST00000476279.1	+	3	345	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	NDUFB2_ENST00000460088.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000465506.1_Missense_Mutation_p.Q91E|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000482954.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000204307.5_Missense_Mutation_p.Q81E|NDUFB2_ENST00000247866.4_Missense_Mutation_p.Q91E|NDUFB2_ENST00000476470.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000472695.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000471136.1_Missense_Mutation_p.Q79E|NDUFB2_ENST00000475276.1_Missense_Mutation_p.Q64E			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	91					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TGATCCTTCCCAGTGGACAGA	0.388																																						ENST00000476279.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10						c.(271-273)Cag>Gag		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	NADH(DB00157)						125.0	121.0	123.0					7																	140404687		2203	4300	6503	SO:0001583	missense	4708				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:140404687C>G	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.271C>G	7.37:g.140404687C>G	ENSP00000419087:p.Gln91Glu					NDUFB2_ENST00000476470.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000482954.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000475276.1_Missense_Mutation_p.Q64E|NDUFB2_ENST00000204307.5_Missense_Mutation_p.Q81E|NDUFB2_ENST00000247866.4_Missense_Mutation_p.Q91E|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000460088.1_Missense_Mutation_p.Q27E|NDUFB2_ENST00000465506.1_Missense_Mutation_p.Q91E|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000471136.1_Missense_Mutation_p.Q79E|NDUFB2_ENST00000472695.1_Missense_Mutation_p.Q27E	p.Q91E			O95178	NDUB2_HUMAN			3	345	+	Melanoma(164;0.00956)		91					Q6FGI6	Missense_Mutation	SNP	ENST00000476279.1	37	c.271C>G	CCDS5862.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588506	0.13812	.	.	ENSG00000090266	ENST00000482954;ENST00000476279;ENST00000247866;ENST00000465506;ENST00000204307;ENST00000464566;ENST00000460088;ENST00000472695;ENST00000476470;ENST00000471136;ENST00000475276	.	.	.	5.8	1.81	0.25067	.	0.792782	0.12157	N	0.494344	T	0.31796	0.0808	N	0.25485	0.75	0.31235	N	0.695818	B	0.20052	0.041	B	0.17722	0.019	T	0.32929	-0.9888	9	0.13470	T	0.59	-14.6552	10.9754	0.47463	0.4819:0.4012:0.1169:0.0	.	91	O95178	NDUB2_HUMAN	E	27;91;91;91;81;90;27;27;27;79;64	.	ENSP00000204307:Q81E	Q	+	1	0	NDUFB2	140051156	0.000000	0.05858	0.989000	0.46669	0.876000	0.50452	-0.472000	0.06623	0.353000	0.24079	-0.848000	0.03037	CAG		0.388	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546		18	45	0	0	0	1	0	18	45				
SLC1A6	6511	broad.mit.edu	37	19	15061028	15061028	+	Silent	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:15061028T>A	ENST00000221742.3	-	9	1681	c.1674A>T	c.(1672-1674)ggA>ggT	p.G558G	SLC1A6_ENST00000600144.1_Silent_p.G480G|SLC1A6_ENST00000430939.2_Silent_p.G494G	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	558					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCTCGTTGCCTCCCCGTCCCC	0.647																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1480-1482)ggA>ggT		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						30.0	26.0	27.0					19																	15061028		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061028T>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1674A>T	19.37:g.15061028T>A						SLC1A6_ENST00000600144.1_Silent_p.G480G|SLC1A6_ENST00000221742.3_Silent_p.G558G	p.G494G			P48664	EAA4_HUMAN			9	1611	-			558					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1482A>T	CCDS12321.1																																																																																				0.647	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		11	24	0	0	0	1	0	11	24				
MET	4233	broad.mit.edu	37	7	116397691	116397691	+	Splice_Site	SNP	G	G	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:116397691G>T	ENST00000318493.6	+	8	2152		c.e8-1		MET_ENST00000397752.3_Splice_Site|MET_ENST00000436117.2_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTCCCCTCCAGGATCCTGTAA	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.e8-1		met proto-oncogene							69.0	64.0	65.0					7																	116397691		1814	4072	5886	SO:0001630	splice_region_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116397691G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1966-1G>T	7.37:g.116397691G>T						MET_ENST00000436117.2_Splice_Site|MET_ENST00000318493.6_Splice_Site		NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2165	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37		CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985133	0.35036	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3108	0.94187	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116184927	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	6.821000	0.75272	2.640000	0.89533	0.585000	0.79938	.		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	38	137	1	0	5.43694e-19	1	6.13848e-19	38	137				
SCUBE1	80274	broad.mit.edu	37	22	43634951	43634951	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr22:43634951G>C	ENST00000360835.4	-	7	863	c.737C>G	c.(736-738)gCa>gGa	p.A246G	SCUBE1_ENST00000290460.7_Missense_Mutation_p.A276G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	246	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTTATTGACTGCGCACGTCTC	0.577																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(736-738)gCa>gGa		signal peptide, CUB domain, EGF-like 1							52.0	45.0	48.0					22																	43634951		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43634951G>C		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.737C>G	22.37:g.43634951G>C	ENSP00000354080:p.Ala246Gly					SCUBE1_ENST00000290460.7_Missense_Mutation_p.A276G|Z82214.2_ENST00000419643.1_RNA	p.A246G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			7	863	-		all_neural(38;0.0414)|Ovarian(80;0.07)	246			EGF-like 5 (Potential).|EGF-like 6 (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.737C>G	CCDS14048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.873298|4.873298	0.91664|0.91664	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460|ENST00000381243	D;D|.	0.96491|.	-4.03;-4.03|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Epidermal growth factor-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77942|0.77942	0.4206|0.4206	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D|.	0.63880|.	0.873;0.993|.	P;D|.	0.63488|.	0.571;0.915|.	T|T	0.79533|0.79533	-0.1764|-0.1764	10|6	0.18710|0.66056	T|D	0.47|0.02	.|.	19.1674|19.1674	0.93562|0.93562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276;246|.	B1AH90;Q8IWY4|.	.;SCUB1_HUMAN|.	G|E	246;246;276|39	ENSP00000354080:A246G;ENSP00000290460:A276G|.	ENSP00000290460:A276G|ENSP00000370642:Q39E	A|Q	-|-	2|1	0|0	SCUBE1|SCUBE1	41964895|41964895	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.625000|0.625000	0.37756|0.37756	7.873000|7.873000	0.87193|0.87193	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.577	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		11	69	0	0	0	1	0	11	69				
KIF13A	63971	broad.mit.edu	37	6	17805743	17805743	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr6:17805743C>A	ENST00000259711.6	-	19	2372	c.2267G>T	c.(2266-2268)aGa>aTa	p.R756I	KIF13A_ENST00000378826.2_Missense_Mutation_p.R756I|KIF13A_ENST00000378843.2_Missense_Mutation_p.R756I|KIF13A_ENST00000378814.5_Missense_Mutation_p.R756I|KIF13A_ENST00000378816.5_Missense_Mutation_p.R756I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	756					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTAAAGGTCTCTCATGTCAAT	0.378																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2266-2268)aGa>aTa		kinesin family member 13A							128.0	119.0	122.0					6																	17805743		1834	4083	5917	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17805743C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2267G>T	6.37:g.17805743C>A	ENSP00000259711:p.Arg756Ile					KIF13A_ENST00000378816.5_Missense_Mutation_p.R756I|KIF13A_ENST00000259711.6_Missense_Mutation_p.R756I|KIF13A_ENST00000378843.2_Missense_Mutation_p.R756I|KIF13A_ENST00000378826.2_Missense_Mutation_p.R756I	p.R756I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		19	2266	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	756					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2267G>T	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.465661|5.465661	0.96257|0.96257	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|D;D;D;D;D	.|0.86230	.|-2.09;-2.09;-2.09;-2.09;-2.09	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93716	.|0.7992	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.994;0.998;0.997;0.997	.|D	.|0.93328	.|0.6698	.|10	.|0.87932	.|D	.|0	.|.	20.6087|20.6087	0.99469|0.99469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|756;756;756;756	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	X|I	150|756	.|ENSP00000368091:R756I;ENSP00000259711:R756I;ENSP00000368103:R756I;ENSP00000368120:R756I;ENSP00000368093:R756I	.|ENSP00000259711:R756I	E|R	-|-	1|2	0|0	KIF13A|KIF13A	17913722|17913722	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	7.383000|7.383000	0.79741|0.79741	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.378	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			4	82	1	0	2.56e-06	1	2.63529e-06	4	82				
UBE4B	10277	broad.mit.edu	37	1	10197129	10197129	+	Silent	SNP	C	C	T	rs371708780		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:10197129C>T	ENST00000253251.8	+	16	2681	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	UBE4B_ENST00000343090.6_Silent_p.G743G|UBE4B_ENST00000377157.3_Silent_p.G498G					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCTAGATGGCGATCAGCCTC	0.393																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1492-1494)ggC>ggT		ubiquitination factor E4B		C	,	0,4406		0,0,2203	116.0	104.0	108.0		2229,1842	-3.8	1.0	1		108	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	743/1303,614/1174	10197129	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10197129C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1842C>T	1.37:g.10197129C>T						UBE4B_ENST00000253251.8_Silent_p.G614G|UBE4B_ENST00000343090.6_Silent_p.G743G	p.G498G	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	16	2555	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	743						Silent	SNP	ENST00000253251.8	37	c.1494C>T	CCDS110.1																																																																																				0.393	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		9	216	0	0	0	1	0	9	216				
HFM1	164045	broad.mit.edu	37	1	91781406	91781406	+	Missense_Mutation	SNP	C	C	A	rs377647325	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:91781406C>A	ENST00000370425.3	-	28	3204	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S	HFM1_ENST00000294696.5_Missense_Mutation_p.A268S|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.A715S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1036	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATTATCTGCGTCACCTATG	0.308																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3106-3108)Gca>Tca		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							76.0	75.0	75.0					1																	91781406		2202	4297	6499	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781406C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3106G>T	1.37:g.91781406C>A	ENSP00000359454:p.Ala1036Ser					HFM1_ENST00000370424.3_Missense_Mutation_p.A715S|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A268S	p.A1036S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3204	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1036			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3106G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	3.140	-0.176618	0.06380	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.58210	0.35;0.35;0.35	5.25	3.33	0.38152	Sec63 domain (2);	0.293567	0.32753	N	0.005691	T	0.19327	0.0464	L	0.28274	0.84	0.27558	N	0.950283	B;B;B	0.28350	0.028;0.208;0.034	B;B;B	0.37422	0.01;0.249;0.135	T	0.33701	-0.9858	10	0.11182	T	0.66	.	9.9792	0.41802	0.1383:0.7892:0.0:0.0725	.	715;247;1036	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	S	1036;268;715;720	ENSP00000359454:A1036S;ENSP00000294696:A268S;ENSP00000359453:A715S	ENSP00000294696:A268S	A	-	1	0	HFM1	91553994	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.803000	0.38863	0.575000	0.29434	0.460000	0.39030	GCA		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		17	74	1	0	1.15088e-07	1	1.20842e-07	17	74				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	313	0	0	0	1	0	6	313				
LRP1B	53353	broad.mit.edu	37	2	141072574	141072574	+	Silent	SNP	T	T	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr2:141072574T>A	ENST00000389484.3	-	83	13706	c.12735A>T	c.(12733-12735)ggA>ggT	p.G4245G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4245	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATCTTTCTCCTGAATAAC	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12733-12735)ggA>ggT		low density lipoprotein receptor-related protein 1B							149.0	136.0	140.0					2																	141072574		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072574T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12735A>T	2.37:g.141072574T>A		TSP Lung(27;0.18)					p.G4245G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13706	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4245			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12735A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601147	0.28534	.	.	ENSG00000168702	ENST00000437977	.	.	.	6.06	4.89	0.63831	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53464	-0.8435	4	.	.	.	.	5.9153	0.19052	0.2747:0.0694:0.0:0.6558	.	.	.	.	V	477	.	.	E	-	2	0	LRP1B	140789044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.416000	0.34759	1.087000	0.41251	0.533000	0.62120	GAG		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		37	100	0	0	0	1	0	37	100				
CR2	1380	broad.mit.edu	37	1	207646267	207646267	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:207646267T>G	ENST00000367058.3	+	10	1910	c.1721T>G	c.(1720-1722)aTc>aGc	p.I574S	CR2_ENST00000367057.3_Missense_Mutation_p.I574S|CR2_ENST00000367059.3_Missense_Mutation_p.I574S|CR2_ENST00000458541.2_Missense_Mutation_p.I547S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	574	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAGAGCACCATCCGTTGTACA	0.488																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1720-1722)aTc>aGc		complement component (3d/Epstein Barr virus) receptor 2							81.0	76.0	78.0					1																	207646267		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646267T>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1721T>G	1.37:g.207646267T>G	ENSP00000356025:p.Ile574Ser					CR2_ENST00000367058.3_Missense_Mutation_p.I574S|CR2_ENST00000367059.3_Missense_Mutation_p.I574S|CR2_ENST00000458541.2_Missense_Mutation_p.I547S	p.I574S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			10	1910	+			574			Sushi 9.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1721T>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.438989	0.63067	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.67698	-0.28;-0.28;-0.28;1.89	5.75	5.75	0.90469	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80884	0.4709	M	0.77103	2.36	0.37927	D	0.931876	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;1.0	D	0.83968	0.0325	9	0.49607	T	0.09	.	12.4541	0.55693	0.0:0.0:0.0:1.0	.	574;574;574;574	C9JHD2;Q5SR47;P20023;P20023-3	.;.;CR2_HUMAN;.	S	574;574;574;547	ENSP00000356025:I574S;ENSP00000356024:I574S;ENSP00000356026:I574S;ENSP00000404222:I547S	ENSP00000356024:I574S	I	+	2	0	CR2	205712890	0.996000	0.38824	0.934000	0.37439	0.528000	0.34623	3.850000	0.55918	2.195000	0.70347	0.533000	0.62120	ATC		0.488	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		31	119	0	0	0	1	0	31	119				
CARD8	22900	broad.mit.edu	37	19	48737702	48737702	+	Missense_Mutation	SNP	C	C	T	rs536343060		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:48737702C>T	ENST00000359009.4	-	3	346	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.R53H|CARD8_ENST00000391898.3_Missense_Mutation_p.R103H|CARD8_ENST00000520153.1_Missense_Mutation_p.R53H|CARD8_ENST00000519940.1_Missense_Mutation_p.R103H|CARD8_ENST00000357778.5_De_novo_Start_InFrame|CARD8_ENST00000520753.1_Missense_Mutation_p.R103H|CARD8_ENST00000520015.1_Missense_Mutation_p.R103H|CARD8_ENST00000447740.2_Missense_Mutation_p.R53H			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	12					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGGAACAGCACGGAACAATAA	0.463																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(307-309)cGt>cAt		caspase recruitment domain family, member 8							164.0	136.0	145.0					19																	48737702		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737702C>T	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.34G>A	19.37:g.48737702C>T	ENSP00000351901:p.Val12Met					CARD8_ENST00000519940.1_Missense_Mutation_p.R103H|CARD8_ENST00000520153.1_Missense_Mutation_p.R53H|CARD8_ENST00000447740.2_Missense_Mutation_p.R53H|CARD8_ENST00000521613.1_Missense_Mutation_p.R53H|CARD8_ENST00000357778.5_De_novo_Start_InFrame|CARD8_ENST00000359009.4_Missense_Mutation_p.V12M|CARD8_ENST00000520015.1_Missense_Mutation_p.R103H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Missense_Mutation_p.R103H	p.R103H	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	350	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.308G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.013|0.013	-1.630778|-1.630778	0.00813|0.00813	.|.	.|.	ENSG00000105483|ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940|ENST00000359009	T;T;T;T;T;T;T|T	0.20738|0.15017	2.41;2.33;2.05;2.41;2.05;2.41;2.33|2.46	1.21|1.21	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|B;B;B	0.02656|0.09022	0.0;0.0;0.0|0.0;0.002;0.0	B;B;B|B;B;B	0.01281|0.01281	0.0;0.0;0.0|0.0;0.0;0.0	T|T	0.25502|0.25502	-1.0130|-1.0130	9|9	0.59425|0.62326	D|D	0.04|0.03	.|.	3.8102|3.8102	0.08793|0.08793	0.0:0.3236:0.1971:0.4792|0.0:0.3236:0.1971:0.4792	.|.	103;103;53|36;12;12	E9PEM7;Q9Y2G2-3;G3XAM9|B5KVR7;Q9Y2G2-2;Q9Y2G2	.;.;.|.;.;CARD8_HUMAN	H|M	53;103;103;53;103;53;103|12	ENSP00000391248:R53H;ENSP00000375767:R103H;ENSP00000429839:R103H;ENSP00000428736:R53H;ENSP00000430747:R103H;ENSP00000427858:R53H;ENSP00000428883:R103H|ENSP00000351901:V12M	ENSP00000375767:R103H|ENSP00000351901:V12M	R|V	-|-	2|1	0|0	CARD8|CARD8	53429514|53429514	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-5.630000|-5.630000	0.00108|0.00108	-2.485000|-2.485000	0.00520|0.00520	-3.485000|-3.485000	0.00034|0.00034	CGT|GTG		0.463	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		18	83	0	0	0	1	0	18	83				
MFSD3	113655	broad.mit.edu	37	8	145739027	145739027	+	IGR	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr8:145739027G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.R710C|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCCTCGCGCCGGTTGCAG	0.612																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2128-2130)Cgc>Tgc	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							29.0	33.0	31.0					8																	145739027		2087	4213	6300	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739027G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739027G>A						RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	p.R710C	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		13	2169	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		710			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000301327.4	37	c.2128C>T	CCDS6431.1																																																																																				0.612	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		3	19	0	0	0	1	0	3	19				
KIAA0556	23247	broad.mit.edu	37	16	27788942	27788942	+	Silent	SNP	C	C	T	rs370236727		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr16:27788942C>T	ENST00000261588.4	+	26	4582	c.4563C>T	c.(4561-4563)gaC>gaT	p.D1521D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1521						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTGGTGGACGACCTGCTTG	0.637																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4561-4563)gaC>gaT		KIAA0556		C		0,4394		0,0,2197	99.0	86.0	90.0		4563	-9.5	0.4	16		90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIAA0556	NM_015202.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		1521/1619	27788942	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27788942C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4563C>T	16.37:g.27788942C>T							p.D1521D	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			26	4582	+			1521					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4563C>T	CCDS32415.1																																																																																				0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		16	58	0	0	0	1	0	16	58				
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642																																						ENST00000292205.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(73-75)gTg>gGg		adenosine deaminase, RNA-specific							42.0	46.0	45.0					1																	154600401		876	1991	2867	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154600401A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000292205.5:c.74T>G	1.37:g.154600401A>C	ENSP00000292205:p.Val25Gly					ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	p.V25G	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	73	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		0					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000292205.5	37	c.74T>G		.	.	.	.	.	.	.	.	.	.	A	12.47	1.946908	0.34377	.	.	ENSG00000160710	ENST00000292205	T	0.13307	2.6	4.03	0.872	0.19113	.	1.108720	0.07140	N	0.847182	T	0.08447	0.0210	.	.	.	0.36170	D	0.848706	.	.	.	.	.	.	T	0.39603	-0.9606	7	0.87932	D	0	-2.0864	3.7143	0.08433	0.2329:0.2072:0.5598:0.0	.	.	.	.	G	25	ENSP00000292205:V25G	ENSP00000292205:V25G	V	-	2	0	ADAR	152867025	0.555000	0.26530	0.954000	0.39281	0.830000	0.47004	-0.015000	0.12634	0.471000	0.27319	-0.386000	0.06593	GTG		0.642	ADAR-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001111		7	50	0	0	0	1	0	7	50				
PCDH11X	27328	broad.mit.edu	37	X	91133694	91133694	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrX:91133694G>A	ENST00000373094.1	+	2	3300	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	819					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGCTGTTGCTGGCACCAT	0.468																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2455-2457)Gct>Act		protocadherin 11 X-linked							57.0	47.0	50.0					X																	91133694		2202	4280	6482	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133694G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2455G>A	X.37:g.91133694G>A	ENSP00000362186:p.Ala819Thr					PCDH11X_ENST00000406881.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A819T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A819T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A819T	p.A819T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3300	+			819					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2455G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428441	0.25726	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.15	3.09	0.35607	Protocadherin (1);	0.113350	0.64402	D	0.000015	T	0.56455	0.1986	M	0.65975	2.015	0.40627	D	0.981824	P;P;P;P;P;P;P;P	0.49696	0.835;0.911;0.911;0.911;0.911;0.927;0.635;0.635	B;P;P;P;P;P;B;B	0.51777	0.396;0.55;0.55;0.55;0.55;0.679;0.396;0.396	T	0.63233	-0.6683	10	0.62326	D	0.03	.	13.4397	0.61106	0.0:0.0:0.7029:0.2971	.	819;819;819;819;819;819;819;819	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	819	ENSP00000378746:A819T;ENSP00000362186:A819T;ENSP00000362189:A819T;ENSP00000355040:A819T;ENSP00000362180:A819T;ENSP00000423762:A819T;ENSP00000355105:A819T;ENSP00000384758:A819T;ENSP00000298274:A819T	ENSP00000298274:A819T	A	+	1	0	PCDH11X	91020350	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	7.575000	0.82447	0.889000	0.36185	0.594000	0.82650	GCT		0.468	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		41	43	0	0	0	1	0	41	43				
USP8	9101	broad.mit.edu	37	15	50763967	50763967	+	Missense_Mutation	SNP	G	G	A	rs376852674		TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:50763967G>A	ENST00000396444.3	+	8	1162	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	USP8_ENST00000425032.3_Missense_Mutation_p.R198Q|USP8_ENST00000307179.4_Missense_Mutation_p.R275Q|USP8_ENST00000433963.1_Missense_Mutation_p.R275Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	275	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAACTCTCCGGAGTCTGAAA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.001					ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(823-825)cGg>cAg		ubiquitin specific peptidase 8							168.0	164.0	165.0					15																	50763967		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50763967G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.824G>A	15.37:g.50763967G>A	ENSP00000379721:p.Arg275Gln					USP8_ENST00000425032.3_Missense_Mutation_p.R198Q|USP8_ENST00000307179.4_Missense_Mutation_p.R275Q|USP8_ENST00000396444.3_Missense_Mutation_p.R275Q	p.R275Q	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	9	1324	+			275			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.824G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438235	0.25900	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.46	4.35	0.52113	Rhodanese-like (5);	0.198232	0.46758	D	0.000270	T	0.11495	0.0280	N	0.04018	-0.295	0.40242	D	0.977973	B;B	0.18968	0.032;0.032	B;B	0.08055	0.003;0.003	T	0.14531	-1.0469	10	0.25106	T	0.35	-13.1194	11.2482	0.49008	0.2007:0.0:0.7993:0.0	.	198;275	B4DKA8;P40818	.;UBP8_HUMAN	Q	275;275;275;198	ENSP00000379721:R275Q;ENSP00000405537:R275Q;ENSP00000302239:R275Q;ENSP00000412682:R198Q	ENSP00000302239:R275Q	R	+	2	0	USP8	48551259	0.995000	0.38212	1.000000	0.80357	0.806000	0.45545	1.043000	0.30316	2.565000	0.86533	0.561000	0.74099	CGG		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		7	128	0	0	0	1	0	7	128				
OGDH	4967	broad.mit.edu	37	7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr7:44747227_44747228insC	ENST00000222673.5	+	22	2885_2886	c.2843_2844insC	c.(2842-2847)taccccfs	p.YP948fs	OGDH_ENST00000447398.1_Frame_Shift_Ins_p.YP959fs|OGDH_ENST00000543843.1_Frame_Shift_Ins_p.YP899fs|OGDH_ENST00000439616.2_Frame_Shift_Ins_p.YP798fs|OGDH_ENST00000444676.1_Frame_Shift_Ins_p.YP963fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.YP944fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	948					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGCAGAAGTACCCCAATGCTG	0.564																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2842-2844)tccfs		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747227_44747228insC	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2847dupC	7.37:g.44747231_44747231dupC	ENSP00000222673:p.Tyr948fs					OGDH_ENST00000439616.2_Frame_Shift_Ins_p.S798fs|OGDH_ENST00000543843.1_Frame_Shift_Ins_p.S899fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.S944fs|OGDH_ENST00000447398.1_Frame_Shift_Ins_p.S959fs|OGDH_ENST00000444676.1_Frame_Shift_Ins_p.S963fs	p.S948fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			22	2885_2886	+			948					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Ins	INS	ENST00000222673.5	37	c.2843_2844insC	CCDS34627.1																																																																																				0.564	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			35	113						35	113	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		4	4						4	4	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57522157	57522157	+	RNA	DEL	C	C	-			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr14:57522157delC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		GTTCCTCTGGCCTACTCTTTT	0.537																																						ENST00000554725.1																			0																																																			100309464							g.chr14:57522157delC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57522157delC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.537	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		2	4						2	4	---	---	---	---
C15orf39	56905	broad.mit.edu	37	15	75499309	75499310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr15:75499309_75499310insG	ENST00000360639.2	+	2	1240_1241	c.920_921insG	c.(919-924)ctggggfs	p.LG307fs	C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.LG307fs|C15orf39_ENST00000567617.1_Frame_Shift_Ins_p.LG307fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	307						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCAGCCTCTGGGGGGCCACA	0.698																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(919-921)cggfs		chromosome 15 open reading frame 39																																				SO:0001589	frameshift_variant	56905							g.chr15:75499309_75499310insG	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.926dupG	15.37:g.75499315_75499315dupG	ENSP00000353854:p.Leu307fs					C15orf39_ENST00000567617.1_Frame_Shift_Ins_p.R307fs|C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.R307fs	p.R307fs			Q6ZRI6	CO039_HUMAN			2	1240_1241	+			307					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Ins	INS	ENST00000360639.2	37	c.920_921insG	CCDS10276.1																																																																																				0.698	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		12	28						12	28	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10317738	10317739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr17:10317738_10317739insA	ENST00000403437.2	-	10	962_963	c.868_869insT	c.(868-870)tatfs	p.Y290fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	290	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTGATCTGATAAAAAATATGG	0.302									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(868-870)tcafs		myosin, heavy chain 8, skeletal muscle, perinatal																																				SO:0001589	frameshift_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10317738_10317739insA		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.869dupT	17.37:g.10317744_10317744dupA	ENSP00000384330:p.Tyr290fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.S290fs	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			10	962_963	-			290			Myosin head-like.		Q14910	Frame_Shift_Ins	INS	ENST00000403437.2	37	c.868_869insT	CCDS11153.1																																																																																				0.302	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		31	116						31	116	---	---	---	---
AF038458.3	0	broad.mit.edu	37	19	36444100	36444101	+	lincRNA	INS	-	-	A			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:36444100_36444101insA	ENST00000592518.1	+	0	132																											GTTCTGGCCTCACCCATCTGGG	0.619																																						ENST00000592518.1																			0																																																			0							g.chr19:36444100_36444101insA																													19.37:g.36444101_36444101dupA														0	132	+									RNA	INS	ENST00000592518.1	37																																																																																						0.619	AF038458.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000457405.1			2	4						2	4	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41132910	41132911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chr19:41132910_41132911insC	ENST00000308370.7	+	32	4214_4215	c.4214_4215insC	c.(4213-4218)cgccccfs	p.RP1405fs	LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.RP1368fs|LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.RP773fs|LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.RP1338fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1406					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AATGTGCTACGCCCCCCCGCAT	0.629																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4213-4215)cccfs		latent transforming growth factor beta binding protein 4																																				SO:0001589	frameshift_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41132910_41132911insC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4221dupC	19.37:g.41132917_41132917dupC	ENSP00000311905:p.Arg1405fs					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.P1368fs|LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.P773fs|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.P1338fs	p.P1405fs	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4214_4215	+			1406					O00508|O75412|O75413	Frame_Shift_Ins	INS	ENST00000308370.7	37	c.4214_4215insC																																																																																					0.629	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		7	41						7	41	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4966786	4966786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A718-01A-22D-A34J-08	TCGA-UF-A718-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e3ba9f2-7dc4-477d-8796-7e750bad525f	310ea880-5ec5-468d-b5c2-0d163438fc3d	g.chrY:4966786delA	ENST00000333703.4	+	5	1647	c.1134delA	c.(1132-1134)atafs	p.I378fs	PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.I389fs|PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.I389fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	389	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGACATAAGATACATCG	0.408																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1132-1134)atfs		protocadherin 11 Y-linked							15.0	13.0	14.0					Y																	4966786		585	1886	2471	SO:0001589	frameshift_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966786delA	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1134delA	Y.37:g.4966786delA	ENSP00000330552:p.Ile378fs					PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.I389fs|PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.I389fs	p.I378fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	1647	+			389			Cadherin 3.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Frame_Shift_Del	DEL	ENST00000333703.4	37	c.1134delA	CCDS14776.1																																																																																				0.408	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		7	10						7	10	---	---	---	---
